Variant report

Variant	rs6984093
Chromosome Location	chr8:125056977-125056978
allele	G/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	TCF12	chr8:125056656-125057309	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr8:125056509-125057370	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr8:125056619-125057258	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr8:125056638-125057357	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr8:125056584-125057135	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr8:125056690-125057358	A549	lung:	n/a	n/a
7	TEAD4	chr8:125056680-125057298	ECC-1	luminal epithelium:	n/a	n/a
8	ESR1	chr8:125056690-125057160	ECC-1	luminal epithelium:	n/a	n/a
9	NFIC	chr8:125056595-125057303	ECC-1	luminal epithelium:	n/a	chr8:125057032-125057048 chr8:125057032-125057049
10	SMC3	chr8:125056910-125057082	HepG2	liver:	n/a	n/a
11	NFIC	chr8:125056633-125057353	SK-N-SH	brain:	n/a	chr8:125057032-125057048 chr8:125057032-125057049
12	NFIC	chr8:125056558-125057432	ECC-1	luminal epithelium:	n/a	chr8:125057032-125057048 chr8:125057032-125057049
13	HNF4A	chr8:125056827-125057192	HepG2	liver:	n/a	chr8:125056981-125056996 chr8:125056982-125056994 chr8:125056982-125056994 chr8:125056981-125056994 chr8:125056981-125056996 chr8:125056981-125056996 chr8:125056981-125056996 chr8:125056981-125056994 chr8:125056980-125056995 chr8:125056981-125056996 chr8:125056982-125056995
14	NR3C1	chr8:125056894-125057071	ECC-1	luminal epithelium:	n/a	n/a
15	EP300	chr8:125056655-125057203	SK-N-SH_RA	brain:	n/a	chr8:125056856-125056872
16	EP300	chr8:125056656-125057168	SK-N-SH_RA	brain:	n/a	chr8:125056856-125056872
17	TCF12	chr8:125056617-125057269	SK-N-SH	brain:	n/a	n/a
18	NFIC	chr8:125056786-125057179	HepG2	liver:	n/a	chr8:125057032-125057048 chr8:125057032-125057049
19	KAP1	chr8:125056757-125057227	HEK293	kidney:	n/a	n/a
20	TEAD4	chr8:125056679-125057270	ECC-1	luminal epithelium:	n/a	n/a
21	EP300	chr8:125056618-125057371	ECC-1	luminal epithelium:	n/a	chr8:125056856-125056872

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125055470..125057405-chr8:125059184..125061018,2	K562	blood:
2	chr8:125056975..125059050-chr8:125064590..125067107,2	MCF-7	breast:

Variant related genes	Relation type
FER1L6-AS1	TF binding region
ENSG00000254249	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10094266	0.84[EUR][1000 genomes]
rs10094533	0.80[CEU][hapmap];0.80[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs10102566	0.80[CEU][hapmap];0.80[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs10106600	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs10113772	0.80[EUR][1000 genomes]
rs1073178	0.80[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs1075051	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs10808530	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs10808531	0.84[EUR][1000 genomes]
rs10956163	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs10956164	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs11984962	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12375254	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12541155	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs12545670	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs13251412	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs13254252	0.83[EUR][1000 genomes]
rs13254498	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs13258808	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13258930	0.80[EUR][1000 genomes]
rs13261097	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs13263969	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs13269044	0.80[CEU][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs2069078	0.80[CEU][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs3886123	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4242353	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4294164	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs4311644	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4330676	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs4345538	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs4389914	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4392878	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4404895	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs4410885	0.84[EUR][1000 genomes]
rs4412351	0.80[CEU][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes]
rs4430074	0.80[CEU][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs4446721	0.91[TSI][hapmap]
rs4460351	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs4483140	0.80[CEU][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4484683	0.84[EUR][1000 genomes]
rs4510842	0.81[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs4576412	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4870886	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4871451	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871452	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4871453	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871454	1.00[CEU][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871457	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4871458	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4871459	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4871460	0.80[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs4871461	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs4871462	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs59583746	0.83[EUR][1000 genomes]
rs6470214	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470216	0.80[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs6470217	0.84[EUR][1000 genomes]
rs6470218	0.83[EUR][1000 genomes]
rs6470219	0.80[CEU][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs6470220	0.82[EUR][1000 genomes]
rs6470221	0.80[CEU][hapmap]
rs6983060	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6987082	0.84[EUR][1000 genomes]
rs6991629	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs6995745	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7001300	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7003992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7005123	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs7007739	0.80[CEU][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs7009406	0.80[CEU][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs7010375	0.80[CEU][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs7012186	0.80[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs7013226	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs7815620	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs7815768	0.80[EUR][1000 genomes]
rs7816075	0.84[EUR][1000 genomes]
rs7822018	0.80[CEU][hapmap]
rs7825506	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs7826405	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs7831422	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7832499	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs7836974	0.83[EUR][1000 genomes]
rs7840702	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7841692	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7842213	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9297683	0.84[EUR][1000 genomes]
rs9297684	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs9297685	0.80[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs9643188	0.80[CEU][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv6375	chr8:125056543-125087258	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125052600-125083600	Weak transcription	Gastric	stomach
2	chr8:125053000-125060400	Weak transcription	Left Ventricle	heart
3	chr8:125053600-125058600	Enhancers	Fetal Heart	heart
4	chr8:125053800-125059800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:125053800-125062400	Weak transcription	Stomach Mucosa	stomach
6	chr8:125054200-125061000	Weak transcription	Fetal Stomach	stomach
7	chr8:125054600-125066800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:125055200-125057800	Enhancers	Fetal Intestine Small	intestine
9	chr8:125055400-125059400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:125056000-125057600	Enhancers	Fetal Intestine Large	intestine
11	chr8:125056200-125057200	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:125056400-125057400	Enhancers	HepG2	liver
13	chr8:125056400-125060200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:125056600-125057200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:125056800-125057200	Enhancers	Pancreas	Pancrea
16	chr8:125056800-125057200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr8:125056800-125057200	Flanking Active TSS	A549	lung
18	chr8:125056800-125057800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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