Variant report

Variant	rs34802997
Chromosome Location	chr14:105198822-105198823
allele	C/T
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	CREB1	chr14:105198455-105199161	A549	lung:	n/a	n/a
2	CREB1	chr14:105198772-105199051	A549	lung:	n/a	n/a
3	RCOR1	chr14:105198739-105199534	Hela-S3	cervix:	n/a	n/a
4	MAX	chr14:105198622-105199058	A549	lung:	n/a	chr14:105198688-105198695 chr14:105198687-105198697 chr14:105198687-105198696 chr14:105198687-105198697 chr14:105198687-105198696
5	NR3C1	chr14:105198499-105199142	A549	lung:	n/a	chr14:105198802-105198809 chr14:105198662-105198677 chr14:105198734-105198747 chr14:105198663-105198677
6	ZNF143	chr14:105198694-105199680	Hela-S3	cervix:	n/a	chr14:105199517-105199535 chr14:105199451-105199470 chr14:105199521-105199540 chr14:105199418-105199437 chr14:105199414-105199432
7	POLR2A	chr14:105198215-105200094	Hela-S3	cervix:	n/a	n/a
8	MAX	chr14:105198544-105199216	ECC-1	luminal epithelium:	n/a	chr14:105198688-105198695 chr14:105198687-105198697 chr14:105199053-105199063 chr14:105198687-105198696 chr14:105198687-105198697 chr14:105198687-105198696
9	POLR2A	chr14:105197072-105203044	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:105198758-105199053	A549	lung:	n/a	n/a
11	POLR2A	chr14:105198615-105199076	A549	lung:	n/a	n/a
12	POLR2A	chr14:105198660-105199785	Hela-S3	cervix:	n/a	n/a
13	NFIC	chr14:105198615-105199341	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr14:105198478-105199732	Hela-S3	cervix:	n/a	chr14:105198688-105198695 chr14:105198687-105198697 chr14:105199053-105199063 chr14:105198687-105198696 chr14:105198687-105198697 chr14:105198687-105198696
15	POLR2A	chr14:105198540-105199011	Hela-S3	cervix:	n/a	n/a
16	RFX5	chr14:105198718-105199563	Hela-S3	cervix:	n/a	n/a
17	NR3C1	chr14:105198435-105199580	A549	lung:	n/a	chr14:105198802-105198809 chr14:105198662-105198677 chr14:105198734-105198747 chr14:105198663-105198677 chr14:105199342-105199351
18	TCF12	chr14:105198721-105199316	ECC-1	luminal epithelium:	n/a	n/a
19	USF2	chr14:105198577-105199507	Hela-S3	cervix:	n/a	chr14:105198686-105198697
20	CHD2	chr14:105198679-105199706	Hela-S3	cervix:	n/a	n/a
21	NR3C1	chr14:105198507-105199145	A549	lung:	n/a	chr14:105198802-105198809 chr14:105198662-105198677 chr14:105198734-105198747 chr14:105198663-105198677
22	NFYB	chr14:105198772-105199210	Hela-S3	cervix:	n/a	n/a
23	MAZ	chr14:105198582-105199710	Hela-S3	cervix:	n/a	chr14:105198688-105198695 chr14:105198687-105198697 chr14:105199053-105199063 chr14:105198687-105198696 chr14:105198687-105198697 chr14:105198687-105198696
24	NR3C1	chr14:105198379-105199189	A549	lung:	n/a	chr14:105198802-105198809 chr14:105198662-105198677 chr14:105198734-105198747 chr14:105198663-105198677
25	POLR2A	chr14:105198644-105199538	MCF10A-Er-Src	breast:	n/a	n/a
26	BRCA1	chr14:105198815-105199173	Hela-S3	cervix:	n/a	n/a
27	NFYA	chr14:105198779-105199242	Hela-S3	cervix:	n/a	n/a
28	MYC	chr14:105198709-105199575	MCF10A-Er-Src	breast:	n/a	chr14:105199053-105199063
29	MYC	chr14:105198531-105199723	Hela-S3	cervix:	n/a	chr14:105198688-105198695 chr14:105198687-105198697 chr14:105199053-105199063 chr14:105198687-105198696 chr14:105198687-105198697 chr14:105198687-105198696
30	POLR2A	chr14:105198613-105199112	A549	lung:	n/a	n/a
31	NR3C1	chr14:105198760-105199036	A549	lung:	n/a	chr14:105198802-105198809
32	TCF12	chr14:105198671-105199333	A549	lung:	n/a	n/a
33	TBP	chr14:105198575-105199458	Hela-S3	cervix:	n/a	n/a
34	GTF2F1	chr14:105198676-105199634	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr14:105198648-105199756	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr14:105198351-105199738	MCF10A-Er-Src	breast:	n/a	n/a
37	MXI1	chr14:105198669-105199381	Hela-S3	cervix:	n/a	n/a
38	TCF12	chr14:105198653-105199353	ECC-1	luminal epithelium:	n/a	n/a
39	ZKSCAN1	chr14:105198693-105199069	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr14:105198695-105199097	K562	blood:	n/a	n/a
41	TCF7L2	chr14:105198804-105199306	Hela-S3	cervix:	n/a	n/a
42	SMARCB1	chr14:105197592-105200870	Hela-S3	cervix:	n/a	n/a
43	SMC3	chr14:105198723-105199638	Hela-S3	cervix:	n/a	chr14:105199497-105199504
44	MAX	chr14:105198558-105199593	Hela-S3	cervix:	n/a	chr14:105198688-105198695 chr14:105198687-105198697 chr14:105199053-105199063 chr14:105198687-105198696 chr14:105198687-105198697 chr14:105198687-105198696
45	FOS	chr14:105198800-105199481	MCF10A-Er-Src	breast:	n/a	chr14:105199343-105199354 chr14:105199047-105199056 chr14:105199341-105199351 chr14:105199051-105199060

No.	Distal block	Cell Line	Cell type
1	chr14:105198444..105201087-chr14:105266015..105268427,3	MCF-7	breast:
2	chr14:105188583..105192775-chr14:105196378..105200303,4	K562	blood:
3	chr14:105194869..105200156-chr14:105217139..105221997,10	K562	blood:
4	chr14:105198279..105198915-chr7:123388996..123389645,2	Hela-S3	cervix:
5	chr14:105197064..105199079-chr14:105260771..105263621,3	MCF-7	breast:
6	chr14:105198092..105200035-chr14:105235985..105237545,2	K562	blood:
7	chr14:105196294..105199066-chr14:105233119..105234960,2	K562	blood:
8	chr14:105152674..105158464-chr14:105195663..105200171,5	MCF-7	breast:
9	chr14:105197221..105198868-chr14:105634853..105636947,2	K562	blood:
10	chr14:104581814..104583961-chr14:105197273..105199247,2	MCF-7	breast:
11	chr14:105197416..105200391-chr14:105289343..105292189,2	MCF-7	breast:

Variant related genes	Relation type
ADSSL1	TF binding region
ENSG00000142208	Chromatin interaction
ENSG00000272686	Chromatin interaction
ENSG00000184916	Chromatin interaction
ENSG00000106299	Chromatin interaction
ENSG00000184990	Chromatin interaction
ENSG00000179627	Chromatin interaction
ENSG00000203485	Chromatin interaction
ENSG00000258858	Chromatin interaction
ENSG00000207568	Chromatin interaction
ENSG00000185100	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11848612	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587551	0.87[EUR][1000 genomes]
rs12590163	0.89[EUR][1000 genomes]
rs12887451	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12889167	0.90[EUR][1000 genomes]
rs2494734	0.83[EUR][1000 genomes]
rs33958252	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34022232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34672588	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3803307	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3809453	0.91[EUR][1000 genomes]
rs4247034	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4432208	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4983386	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4983539	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4983543	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4983544	0.91[EUR][1000 genomes]
rs4983546	0.92[EUR][1000 genomes]
rs57098433	0.84[ASN][1000 genomes]
rs57430375	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60798007	0.87[ASN][1000 genomes]
rs60876857	0.86[ASN][1000 genomes]
rs6644	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7141697	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7142772	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7149183	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7149551	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7151424	0.91[EUR][1000 genomes]
rs7155192	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72715972	0.80[ASN][1000 genomes]
rs8006310	0.91[EUR][1000 genomes]
rs8011461	0.91[EUR][1000 genomes]
rs8011779	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:64 , 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
rs34802997	ADSSL1	cis	Skin Sun Exposed Lower leg	GTEx
rs34802997	ADSSL1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105191400-105218200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:105192000-105201600	Weak transcription	Brain Anterior Caudate	brain
3	chr14:105192000-105218200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:105192200-105201200	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:105192200-105201600	Weak transcription	Lung	lung
6	chr14:105192200-105202200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:105192200-105203600	Enhancers	Fetal Muscle Leg	muscle
8	chr14:105192200-105206200	Weak transcription	Fetal Intestine Large	intestine
9	chr14:105192400-105218400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:105194000-105205000	Weak transcription	Fetal Intestine Small	intestine
11	chr14:105196600-105202200	Weak transcription	Thymus	Thymus
12	chr14:105196600-105203600	Enhancers	Placenta	Placenta
13	chr14:105197000-105202800	Enhancers	Psoas Muscle	Psoas
14	chr14:105197000-105203200	Enhancers	Fetal Muscle Trunk	muscle
15	chr14:105197000-105204000	Enhancers	Left Ventricle	heart
16	chr14:105197000-105204000	Enhancers	Right Ventricle	heart
17	chr14:105197000-105204200	Enhancers	Fetal Heart	heart
18	chr14:105197400-105201000	Enhancers	HepG2	liver
19	chr14:105197400-105204000	Enhancers	Liver	Liver
20	chr14:105197400-105210800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:105197600-105199000	Enhancers	Brain Cingulate Gyrus	brain
22	chr14:105197600-105199200	Enhancers	Brain Substantia Nigra	brain
23	chr14:105197600-105199600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr14:105197600-105199800	Enhancers	Gastric	stomach
25	chr14:105197600-105201000	Enhancers	Stomach Mucosa	stomach
26	chr14:105197600-105201600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:105197600-105203800	Enhancers	Right Atrium	heart
28	chr14:105198000-105200800	Flanking Active TSS	Hela-S3	cervix
29	chr14:105198000-105201000	Enhancers	A549	lung
30	chr14:105198000-105202800	Enhancers	Esophagus	oesophagus
31	chr14:105198200-105199000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:105198200-105199200	Enhancers	Adipose Nuclei	Adipose
33	chr14:105198200-105199400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr14:105198200-105200200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr14:105198400-105199000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:105198400-105199000	Enhancers	Pancreas	Pancrea
37	chr14:105198400-105200000	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:105198400-105200000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr14:105198400-105200400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:105198400-105200800	Enhancers	Colonic Mucosa	Colon
41	chr14:105198600-105199000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:105198600-105199000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:105198600-105199000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr14:105198600-105199000	Enhancers	NHEK	skin
45	chr14:105198600-105199400	Enhancers	HSMM	muscle
46	chr14:105198600-105199600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr14:105198600-105199800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:105198600-105199800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:105198600-105200000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr14:105198600-105200000	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links