Variant report

Variant	rs12946746
Chromosome Location	chr17:17741669-17741670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:17738858-17742063	HCT-116	colon:	n/a	n/a
2	POLR2A	chr17:17739121-17742080	K562	blood:	n/a	n/a
3	TBL1XR1	chr17:17739088-17741992	K562	blood:	n/a	n/a
4	POLR2A	chr17:17738191-17742163	K562	blood:	n/a	n/a
5	POLR2A	chr17:17739299-17741979	K562	blood:	n/a	n/a
6	REST	chr17:17741371-17741948	K562	blood:	n/a	chr17:17741788-17741801
7	POLR2A	chr17:17739552-17741838	HepG2	liver:	n/a	n/a
8	POLR2A	chr17:17738969-17741830	A549	lung:	n/a	n/a
9	POLR2A	chr17:17739303-17742028	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:17739119-17742142	HepG2	liver:	n/a	n/a
11	TBL1XR1	chr17:17740187-17742017	K562	blood:	n/a	n/a
12	TAL1	chr17:17740466-17741990	K562	blood:	n/a	n/a
13	HMGN3	chr17:17741378-17741710	K562	blood:	n/a	n/a
14	POLR2A	chr17:17738783-17741760	GM12878	blood:	n/a	n/a
15	JUND	chr17:17740154-17742073	K562	blood:	n/a	n/a
16	EP300	chr17:17739324-17742075	K562	blood:	n/a	chr17:17740222-17740231 chr17:17741723-17741736 chr17:17740254-17740270 chr17:17740272-17740281 chr17:17740210-17740226 chr17:17739654-17739662
17	POLR2A	chr17:17741312-17741802	GM12892	blood:	n/a	n/a
18	EP300	chr17:17741494-17742108	A549	lung:	n/a	chr17:17741723-17741736
19	MAX	chr17:17741379-17741957	NB4	blood:	n/a	chr17:17741860-17741870
20	NFIC	chr17:17741536-17741889	HepG2	liver:	n/a	n/a
21	SMC3	chr17:17741547-17741860	Hela-S3	cervix:	n/a	n/a
22	RCOR1	chr17:17739374-17742071	K562	blood:	n/a	n/a
23	MYC	chr17:17739324-17741942	K562	blood:	n/a	chr17:17741860-17741870 chr17:17740306-17740316 chr17:17740165-17740175
24	POLR2A	chr17:17740656-17741940	A549	lung:	n/a	n/a
25	POLR2A	chr17:17739067-17742189	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr17:17738800-17742206	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr17:17738216-17742184	HCT-116	colon:	n/a	n/a
28	POLR2A	chr17:17739302-17742055	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr17:17740651-17742008	H1-hESC	embryonic stem cell:	n/a	n/a
30	RCOR1	chr17:17741290-17741977	K562	blood:	n/a	n/a
31	POLR2A	chr17:17741435-17742101	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr17:17740645-17741843	A549	lung:	n/a	n/a
33	USF2	chr17:17740588-17742077	Hela-S3	cervix:	n/a	n/a
34	MAX	chr17:17738846-17742197	HCT-116	colon:	n/a	chr17:17741860-17741870 chr17:17740306-17740316 chr17:17740165-17740175
35	POLR2A	chr17:17739052-17742048	SK-N-MC	brain:	n/a	n/a
36	SIN3AK20	chr17:17741305-17742145	A549	lung:	n/a	n/a
37	REST	chr17:17741619-17742062	A549	lung:	n/a	chr17:17741788-17741801
38	TCF12	chr17:17738868-17742230	A549	lung:	n/a	n/a
39	ZBTB7A	chr17:17741413-17741893	K562	blood:	n/a	n/a
40	HEY1	chr17:17739229-17742083	HepG2	liver:	n/a	chr17:17740195-17740210 chr17:17739668-17739683
41	ELF1	chr17:17741660-17741922	HepG2	liver:	n/a	n/a
42	POLR2A	chr17:17739183-17741879	U87	brain:	n/a	n/a
43	MAZ	chr17:17741485-17741909	HepG2	liver:	n/a	chr17:17741860-17741870
44	POLR2A	chr17:17739120-17741736	GM18505	blood:	n/a	n/a
45	POLR2A	chr17:17738962-17742130	H1-hESC	embryonic stem cell:	n/a	n/a
46	IRF1	chr17:17741278-17742026	K562	blood:	n/a	chr17:17741303-17741320
47	CTCF	chr17:17741640-17741790	HUVEC	blood vessel:	n/a	n/a
48	FOSL2	chr17:17740425-17742207	A549	lung:	n/a	n/a
49	POLR2A	chr17:17740617-17742015	Hela-S3	cervix:	n/a	n/a
50	MYC	chr17:17738176-17742091	A549	lung:	n/a	chr17:17741860-17741870 chr17:17740306-17740316 chr17:17740165-17740175

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17741631-17741681	HNPCEpiC	eye:	n/a
2	chr17:17741631-17741681	GM12878	blood:	n/a
3	chr17:17741631-17741681	SK-N-SH_RA	brain:	n/a
4	chr17:17741631-17741681	HUVEC	blood vessel:	n/a
5	chr17:17741631-17741681	LNCaP	prostate:	n/a
6	chr17:17741631-17741681	PrEC	prostate:	n/a
7	chr17:17741631-17741681	GM12891	blood:	n/a
8	chr17:17741631-17741681	AG10803	skin:	n/a
9	chr17:17741631-17741681	HCM	heart:	n/a
10	chr17:17741631-17741681	T-47D	breast:	n/a
11	chr17:17741631-17741681	NT2-D1	testis:	n/a
12	chr17:17741631-17741681	BE2_C	brain:	n/a
13	chr17:17741631-17741681	HL-60	blood:	n/a
14	chr17:17741631-17741681	Hepatocyte	liver:	n/a
15	chr17:17741631-17741681	AG04449	skin:	fetal
16	chr17:17741631-17741681	Hela-S3	cervix:	n/a
17	chr17:17741631-17741681	BJ	skin:	n/a
18	chr17:17741631-17741681	HIPEpiC	eye:	n/a
19	chr17:17741631-17741681	NHDF-neo	bronchial:	n/a
20	chr17:17741631-17741681	NHBE	bronchial:	n/a
21	chr17:17741631-17741681	GM19239	blood:	n/a
22	chr17:17741631-17741681	HEK293	kidney:	embryo
23	chr17:17741631-17741681	HRPEpiC	eye:	n/a
24	chr17:17741631-17741681	HAEpiC	amniotic membrane:	n/a
25	chr17:17741631-17741681	HRE	kidney:	n/a
26	chr17:17741631-17741681	ECC-1	luminal epithelium:	n/a
27	chr17:17741631-17741681	MCF-7	breast:	n/a
28	chr17:17741631-17741681	SAEC	small airway:	n/a
29	chr17:17741631-17741681	MCF10A-Er-Src	breast:	n/a
30	chr17:17741631-17741681	GM06990	blood:	n/a
31	chr17:17741631-17741681	AG04450	lung:	fetal
32	chr17:17741631-17741681	AG09309	skin:	n/a
33	chr17:17741631-17741681	PANC-1	pancreas:	n/a
34	chr17:17741631-17741681	NB4	blood:	n/a
35	chr17:17741631-17741681	AG09319	gingival:	n/a
36	chr17:17741631-17741681	RPTEC	kidney:	n/a
37	chr17:17741631-17741681	SK-N-SH	brain:	n/a
38	chr17:17741631-17741681	AoSMC	blood vessel:	n/a
39	chr17:17741631-17741681	HMEC	breast:	n/a
40	chr17:17741631-17741681	HPAEpiC	pulmonary alveolar:	n/a
41	chr17:17741631-17741681	ProgFib	skin:	n/a
42	chr17:17741631-17741681	Jurkat	blood:	n/a
43	chr17:17741631-17741681	SK-N-MC	brain:	n/a
44	chr17:17741631-17741681	NH-A	brain:	n/a
45	chr17:17741631-17741681	SKMC	muscle:	n/a
46	chr17:17741631-17741681	HEEpiC	esophagus:	n/a
47	chr17:17741631-17741681	IMR90	lung:	fetal
48	chr17:17741631-17741681	HCPEpiC	choroid plexus:	n/a
49	chr17:17741631-17741681	HepG2	liver:	n/a
50	chr17:17741631-17741681	ovcar-3	ovarian:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17630393..17635386-chr17:17740565..17747416,7	MCF-7	breast:
2	chr15:65596815..65597571-chr17:17741384..17741941,2	Hela-S3	cervix:
3	chr17:17580850..17587926-chr17:17737733..17744809,17	MCF-7	breast:
4	chr17:17594054..17595929-chr17:17740676..17742731,2	K562	blood:
5	chr17:17582541..17589441-chr17:17738170..17742091,10	K562	blood:
6	chr17:17700084..17702891-chr17:17740296..17741974,2	MCF-7	breast:
7	chr17:17740831..17741795-chr5:41904214..41904756,2	Hela-S3	cervix:
8	chr17:17740765..17742638-chr18:3245655..3247781,2	MCF-7	breast:
9	chr12:57038481..57041021-chr17:17741070..17743316,2	K562	blood:
10	chr17:17584674..17588119-chr17:17738170..17742427,6	K562	blood:
11	chr17:17583946..17588364-chr17:17740477..17744360,6	MCF-7	breast:
12	chr17:17685438..17688763-chr17:17737889..17741903,5	K562	blood:
13	chr17:17741535..17743958-chr17:17764231..17767571,3	K562	blood:
14	chr17:17741084..17743223-chr17:17876153..17877806,2	MCF-7	breast:
15	chr17:17683965..17687759-chr17:17739269..17741858,4	K562	blood:
16	chr17:17672192..17674299-chr17:17741443..17743483,2	K562	blood:
17	chr17:17622624..17624957-chr17:17740328..17743276,2	K562	blood:

No data

Variant related genes	Relation type
SREBF1	TF binding region
SREBF1	CpG island
ENSG00000171962	Chromatin interaction
ENSG00000175662	Chromatin interaction
ENSG00000223979	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000101608	Chromatin interaction
ENSG00000237328	Chromatin interaction
ENSG00000272688	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000205765	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1052299	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11078399	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11078400	0.87[EUR][1000 genomes]
rs1108648	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11650649	0.82[AMR][1000 genomes]
rs11650890	0.85[AMR][1000 genomes]
rs11652144	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11652881	0.82[AMR][1000 genomes]
rs11656665	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11657074	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11657130	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11657423	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11658309	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12450799	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12936037	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12936927	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12938501	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12941039	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12952723	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13306736	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16960744	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1889014	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1889018	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2236513	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2350976	0.82[AMR][1000 genomes]
rs3183702	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35451946	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3744113	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3744115	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4924821	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4924822	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4924823	0.86[EUR][1000 genomes]
rs4925115	0.83[EUR][1000 genomes]
rs4925116	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4925119	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4925120	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4925123	0.84[AMR][1000 genomes]
rs56248913	0.87[AMR][1000 genomes]
rs58638639	0.84[EUR][1000 genomes]
rs6502618	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6502619	0.87[AMR][1000 genomes]
rs7359509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7501812	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7503334	0.87[AMR][1000 genomes]
rs7503747	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8065497	0.81[AMR][1000 genomes]
rs8065563	0.87[AMR][1000 genomes]
rs8066560	0.94[EUR][1000 genomes]
rs8078756	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8079321	0.86[EUR][1000 genomes]
rs8080061	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs950966	0.84[AMR][1000 genomes]
rs9891957	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9893690	0.91[EUR][1000 genomes]
rs9894257	0.89[EUR][1000 genomes]
rs9895335	0.84[EUR][1000 genomes]
rs9895750	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9899634	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9902941	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9906673	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9907246	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9907287	0.86[EUR][1000 genomes]
rs9908017	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9908299	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9911281	0.85[EUR][1000 genomes]
rs9915248	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9915776	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS 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
5	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	123 gene(s)	inside rSNPs	diseases
6	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh 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	78 gene(s)	inside rSNPs	diseases
8	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv833385	chr17:17594037-17765578	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
12	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription 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 miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking 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 miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv1062361	chr17:17598407-17746899	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
16	nsv543243	chr17:17598407-17746899	Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking 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	73 gene(s)	inside rSNPs	diseases
17	nsv907756	chr17:17619859-17747289	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
18	nsv522668	chr17:17619859-17752809	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
19	nsv907757	chr17:17619859-17752809	Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
20	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 miRNA target site	72 gene(s)	inside rSNPs	diseases
21	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
22	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
23	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
24	nsv907760	chr17:17649423-17782404	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
25	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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 miRNA target site	74 gene(s)	inside rSNPs	diseases
26	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
27	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking 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	72 gene(s)	inside rSNPs	diseases
28	nsv907763	chr17:17673824-17749822	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
29	nsv907764	chr17:17673824-17754633	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	70 gene(s)	inside rSNPs	diseases
30	nsv907765	chr17:17682484-17802478	Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
31	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh 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	77 gene(s)	inside rSNPs	diseases
32	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
33	nsv907768	chr17:17709136-17747289	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12946746	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17738400-17742200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr17:17739000-17742000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:17739600-17741800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:17740200-17742200	Enhancers	Fetal Heart	heart
5	chr17:17740200-17742200	Enhancers	Fetal Lung	lung
6	chr17:17740400-17741800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr17:17740400-17741800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:17740400-17741800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:17740400-17741800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:17740400-17742000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr17:17740400-17742000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr17:17740400-17742000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr17:17740400-17742200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr17:17740400-17742200	Enhancers	Spleen	Spleen
15	chr17:17740400-17742200	Flanking Active TSS	A549	lung
16	chr17:17740400-17742200	Flanking Active TSS	Hela-S3	cervix
17	chr17:17740400-17742800	Enhancers	GM12878-XiMat	blood
18	chr17:17740400-17743000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:17740400-17743000	Enhancers	NHDF-Ad	bronchial
20	chr17:17740400-17743200	Weak transcription	Aorta	Aorta
21	chr17:17740600-17741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:17740600-17741800	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr17:17740600-17741800	Enhancers	Psoas Muscle	Psoas
24	chr17:17740600-17741800	Enhancers	Right Atrium	heart
25	chr17:17740600-17741800	Flanking Active TSS	HepG2	liver
26	chr17:17740600-17741800	Flanking Active TSS	HSMM	muscle
27	chr17:17740600-17742000	Enhancers	Small Intestine	intestine
28	chr17:17740600-17742200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr17:17740600-17742200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr17:17740600-17742200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr17:17740600-17742200	Enhancers	Left Ventricle	heart
32	chr17:17740600-17742200	Enhancers	Pancreas	Pancrea
33	chr17:17740600-17742200	Flanking Active TSS	K562	blood
34	chr17:17740600-17743000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:17740600-17743000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:17740600-17743000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:17740600-17743000	Enhancers	Brain Anterior Caudate	brain
38	chr17:17740600-17743000	Enhancers	Esophagus	oesophagus
39	chr17:17740600-17743000	Enhancers	Fetal Muscle Trunk	muscle
40	chr17:17740600-17743000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr17:17740600-17743000	Enhancers	HUVEC	blood vessel
42	chr17:17740600-17743000	Enhancers	NHLF	lung
43	chr17:17740600-17743200	Enhancers	Lung	lung
44	chr17:17740600-17743200	Weak transcription	Ovary	ovary
45	chr17:17740600-17743400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:17740800-17741800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr17:17740800-17742000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:17740800-17742000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr17:17740800-17742000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:17740800-17742000	Enhancers	Brain Angular Gyrus	brain

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