Variant report

Variant	rs12887451
Chromosome Location	chr14:105192026-105192027
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:105191980-105192130	HBMEC	blood vessel:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
2	CTCF	chr14:105189151-105192219	SK-N-SH	brain:	n/a	chr14:105192055-105192064 chr14:105191543-105191559 chr14:105191864-105191877 chr14:105192053-105192069 chr14:105189634-105189643
3	SMC3	chr14:105192005-105192137	K562	blood:	n/a	chr14:105192054-105192068
4	CTCF	chr14:105191960-105192110	HVMF	connective:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
5	TCF12	chr14:105191847-105192247	A549	lung:	n/a	n/a
6	CTCF	chr14:105191940-105192090	HBMEC	blood vessel:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
7	CHD2	chr14:105191873-105192095	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr14:105191960-105192110	BJ	skin:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
9	CTCF	chr14:105191947-105192130	Fibrobl	skin:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
10	CTCF	chr14:105192020-105192170	HUVEC	blood vessel:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
11	CTCF	chr14:105192000-105192150	GM12865	blood:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
12	CTCF	chr14:105191940-105192090	HMF	breast:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
13	ZBTB7A	chr14:105191760-105192046	K562	blood:	n/a	n/a
14	CTCF	chr14:105191878-105192123	A549	lung:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
15	ELF1	chr14:105191766-105192109	HepG2	liver:	n/a	n/a
16	PBX3	chr14:105189745-105192194	A549	lung:	n/a	chr14:105191712-105191732
17	CTCF	chr14:105192000-105192150	GM12866	blood:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
18	CTCF	chr14:105191980-105192130	AG10803	skin:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
19	CTCF	chr14:105191960-105192110	GM12873	blood:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
20	ELF1	chr14:105189930-105192118	MCF-7	breast:	n/a	chr14:105190555-105190567 chr14:105190548-105190560 chr14:105190557-105190566 chr14:105190554-105190563
21	CTCF	chr14:105192000-105192150	A549	lung:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
22	CTCF	chr14:105191980-105192130	GM12872	blood:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
23	HCFC1	chr14:105191884-105192116	K562	blood:	n/a	n/a
24	CTCF	chr14:105191400-105192228	IMR90	lung:	n/a	chr14:105192055-105192064 chr14:105191543-105191559 chr14:105191864-105191877 chr14:105192053-105192069
25	JUND	chr14:105191132-105192076	K562	blood:	n/a	chr14:105191309-105191321 chr14:105191310-105191320 chr14:105191307-105191318 chr14:105191311-105191319 chr14:105191843-105191854
26	CTCF	chr14:105191979-105192120	ProgFib	skin:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
27	POLR2A	chr14:105189732-105192379	HepG2	liver:	n/a	n/a
28	CTCF	chr14:105191940-105192090	HPF	lung:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
29	HCFC1	chr14:105189841-105192116	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr14:105191920-105192070	GM12870	blood:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
31	HDAC2	chr14:105191804-105192167	HepG2	liver:	n/a	n/a
32	CTCF	chr14:105191960-105192110	HMEC	breast:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
33	GABPA	chr14:105191771-105192057	HepG2	liver:	n/a	n/a
34	E2F6	chr14:105191900-105192036	K562	blood:	n/a	n/a
35	GABPA	chr14:105191371-105192149	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr14:105191987-105192095	GM13977	blood:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
37	MAX	chr14:105191981-105192181	HepG2	liver:	n/a	n/a
38	CTCF	chr14:105191931-105192164	A549	lung:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
39	CTCF	chr14:105191920-105192173	H1-hESC	embryonic stem cell:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
40	CTCF	chr14:105191912-105192168	K562	blood:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
41	CTCF	chr14:105191940-105192090	HCM	heart:	n/a	chr14:105192055-105192064 chr14:105192053-105192069
42	POLR2A	chr14:105188921-105194257	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr14:105190236-105192278	K562	blood:	n/a	n/a
44	POLR2A	chr14:105191955-105192050	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr14:105186205-105193356	PANC-1	pancreas:	n/a	n/a
46	HEY1	chr14:105191246-105192200	HepG2	liver:	n/a	n/a
47	CTCF	chr14:105191411-105192181	K562	blood:	n/a	chr14:105192055-105192064 chr14:105191543-105191559 chr14:105191864-105191877 chr14:105192053-105192069
48	POLR2A	chr14:105191919-105192118	HUVEC	blood vessel:	n/a	n/a
49	MYBL2	chr14:105191794-105192175	HepG2	liver:	n/a	n/a
50	CTCF	chr14:105191980-105192130	AG04449	skin:	n/a	chr14:105192055-105192064 chr14:105192053-105192069

No.	Distal block	Cell Line	Cell type
1	chr14:105191198..105192100-chr14:105215255..105216111,2	MCF-7	breast:
2	chr14:104602797..104606014-chr14:105189341..105192191,3	MCF-7	breast:
3	chr14:105191309..105193564-chr14:105234092..105236548,3	MCF-7	breast:
4	chr14:105170434..105179131-chr14:105186609..105192895,13	MCF-7	breast:
5	chr14:105191017..105193582-chr14:105615897..105618849,2	MCF-7	breast:
6	chr14:105151001..105161366-chr14:105187722..105194013,19	MCF-7	breast:
7	chr14:105153035..105158169-chr14:105187509..105192673,15	MCF-7	breast:
8	chr14:105191631..105193449-chr17:77688965..77690465,2	MCF-7	breast:
9	chr12:3149191..3151015-chr14:105191042..105193314,2	MCF-7	breast:
10	chr14:105191553..105192162-chr14:105511732..105512291,2	K562	blood:
11	chr14:105129231..105132198-chr14:105189774..105192921,3	MCF-7	breast:
12	chr14:105188904..105192093-chr14:105240193..105242599,4	MCF-7	breast:
13	chr14:105189265..105192416-chr14:105206500..105210757,4	MCF-7	breast:
14	chr14:105190570..105192393-chr14:105212876..105215517,2	MCF-7	breast:
15	chr14:105106350..105108918-chr14:105190635..105192153,2	K562	blood:
16	chr14:105156074..105159091-chr14:105190521..105194604,6	K562	blood:
17	chr14:105189491..105192321-chr14:105330355..105333549,3	MCF-7	breast:
18	chr14:105190542..105194071-chr14:105222962..105226590,4	MCF-7	breast:
19	chr14:105189587..105192281-chr14:105330727..105332921,2	MCF-7	breast:
20	chr14:105156936..105159029-chr14:105190527..105194236,4	K562	blood:
21	chr14:105182032..105184440-chr14:105189275..105192255,3	MCF-7	breast:
22	chr14:105190558..105193197-chr14:105257016..105260232,3	MCF-7	breast:
23	chr14:105188668..105192164-chr14:105264427..105268088,6	MCF-7	breast:
24	chr14:105189864..105192391-chr14:105285849..105287579,2	MCF-7	breast:
25	chr14:105154344..105156028-chr14:105189973..105192295,2	K562	blood:
26	chr14:105188315..105194275-chr14:105263600..105268559,9	MCF-7	breast:

Variant related genes	Relation type
ADSSL1	TF binding region
ENSG00000258701	Chromatin interaction
ENSG00000258858	Chromatin interaction
ENSG00000203485	Chromatin interaction
ENSG00000258430	Chromatin interaction
ENSG00000258748	Chromatin interaction
ENSG00000250899	Chromatin interaction
ENSG00000066735	Chromatin interaction
ENSG00000185100	Chromatin interaction
ENSG00000260792	Chromatin interaction
ENSG00000099814	Chromatin interaction
ENSG00000179627	Chromatin interaction
ENSG00000142208	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11848612	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs33958252	0.84[EUR][1000 genomes]
rs34022232	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34672588	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34802997	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3803307	0.81[EUR][1000 genomes]
rs4247034	0.82[EUR][1000 genomes]
rs4432208	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4983386	0.81[EUR][1000 genomes]
rs4983539	0.82[EUR][1000 genomes]
rs4983543	0.81[EUR][1000 genomes]
rs4983544	0.80[EUR][1000 genomes]
rs4983546	0.80[EUR][1000 genomes]
rs57098433	0.83[ASN][1000 genomes]
rs57430375	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60798007	0.86[ASN][1000 genomes]
rs60876857	0.85[ASN][1000 genomes]
rs6644	0.81[EUR][1000 genomes]
rs7142772	0.84[EUR][1000 genomes]
rs7149183	0.82[EUR][1000 genomes]
rs7149551	0.81[EUR][1000 genomes]
rs7155192	0.81[EUR][1000 genomes]
rs72715972	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv902372	chr14:105011436-105200377	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv2830002	chr14:105078251-105348552	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv902378	chr14:105086475-105200377	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv902379	chr14:105086475-105274093	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	nsv902383	chr14:105092479-105200377	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv902384	chr14:105092479-105208567	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv902385	chr14:105092479-105215351	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv902386	chr14:105092479-105233095	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	nsv902387	chr14:105092479-105274093	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
13	nsv902388	chr14:105092479-105311249	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
15	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
16	nsv902392	chr14:105105769-105274093	Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
17	nsv902393	chr14:105116232-105200377	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
18	nsv902394	chr14:105116232-105274093	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
19	nsv902395	chr14:105119897-105215351	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv902396	chr14:105119897-105274093	Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
21	nsv456447	chr14:105126354-105200377	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
22	nsv566050	chr14:105126354-105200377	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
23	nsv456448	chr14:105126354-105208567	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
24	nsv566051	chr14:105126354-105208567	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
25	nsv470678	chr14:105126354-105246686	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
26	nsv566052	chr14:105126354-105268228	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
27	nsv470677	chr14:105126354-105348552	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
28	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
29	nsv566053	chr14:105139894-105268228	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
30	nsv902397	chr14:105139894-105268228	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
31	nsv456449	chr14:105146579-105200377	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
32	nsv566054	chr14:105146579-105200377	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
33	nsv456450	chr14:105146579-105208567	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
34	nsv566055	chr14:105146579-105208567	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
35	nsv456451	chr14:105146579-105215351	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
36	nsv566056	chr14:105146579-105215351	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
37	nsv902398	chr14:105146579-105215351	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
38	nsv517038	chr14:105146579-105311249	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
39	nsv566057	chr14:105146579-105311249	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
40	nsv902400	chr14:105148655-105200006	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
41	nsv902399	chr14:105148655-105200377	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
42	nsv902401	chr14:105148655-105208567	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
43	nsv902402	chr14:105148655-105215351	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
44	nsv566058	chr14:105148655-105233095	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
45	nsv902403	chr14:105148655-105233095	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
46	nsv820230	chr14:105148655-105246686	ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
47	nsv566059	chr14:105148655-105268228	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
48	nsv566060	chr14:105148655-105311249	Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
49	nsv902404	chr14:105148655-105311249	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
50	nsv902405	chr14:105148655-105340643	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12887451	ADSSL1	cis	Esophagus Mucosa	GTEx
rs12887451	ADSSL1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105190800-105192200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:105190800-105192200	Flanking Active TSS	Fetal Muscle Leg	muscle
3	chr14:105190800-105192400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:105191000-105192200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:105191000-105192200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:105191000-105192800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr14:105191000-105195800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr14:105191200-105192200	Bivalent Enhancer	Brain Germinal Matrix	brain
9	chr14:105191200-105192200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
10	chr14:105191200-105192600	Enhancers	Gastric	stomach
11	chr14:105191400-105192200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr14:105191400-105192200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:105191400-105192200	Enhancers	Lung	lung
14	chr14:105191400-105192400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:105191400-105192400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr14:105191400-105192600	Weak transcription	Aorta	Aorta
17	chr14:105191400-105193000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:105191400-105193400	Enhancers	Pancreas	Pancrea
19	chr14:105191400-105218200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:105191600-105192200	Enhancers	Brain Cingulate Gyrus	brain
21	chr14:105191600-105192200	Enhancers	Brain Hippocampus Middle	brain
22	chr14:105191600-105192400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr14:105191600-105193200	Enhancers	Esophagus	oesophagus
24	chr14:105191600-105197600	Weak transcription	Stomach Mucosa	stomach
25	chr14:105191800-105192200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:105191800-105192200	Enhancers	Brain Angular Gyrus	brain
27	chr14:105191800-105192200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
28	chr14:105191800-105192200	Bivalent Enhancer	Fetal Thymus	thymus
29	chr14:105191800-105192400	Enhancers	Fetal Brain Male	brain
30	chr14:105191800-105192400	Enhancers	Fetal Intestine Small	intestine
31	chr14:105191800-105193000	Enhancers	Placenta	Placenta
32	chr14:105191800-105193400	Enhancers	Fetal Heart	heart
33	chr14:105191800-105193600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:105191800-105194000	Flanking Active TSS	HepG2	liver
35	chr14:105191800-105194200	Enhancers	Spleen	Spleen
36	chr14:105191800-105198600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:105192000-105192200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:105192000-105192200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:105192000-105192200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr14:105192000-105192200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:105192000-105192200	Bivalent Enhancer	Colonic Mucosa	Colon
42	chr14:105192000-105192200	Enhancers	Fetal Intestine Large	intestine
43	chr14:105192000-105192200	Enhancers	K562	blood
44	chr14:105192000-105192400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr14:105192000-105192400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:105192000-105192400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr14:105192000-105192400	Enhancers	Right Atrium	heart
48	chr14:105192000-105192800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:105192000-105192800	Enhancers	Right Ventricle	heart
50	chr14:105192000-105192800	Weak transcription	NH-A	brain

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