Variant report

Variant	rs7006931
Chromosome Location	chr8:103001186-103001187
allele	A/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	STAT3	chr8:103000731-103001518	GM12878	blood:	n/a	n/a
2	RELA	chr8:103000719-103001228	GM19099	blood:	n/a	n/a
3	BCL3	chr8:103000682-103001530	GM12878	blood:	n/a	chr8:103000892-103000901
4	ATF2	chr8:103000774-103001434	GM12878	blood:	n/a	n/a
5	YY1	chr8:103000988-103001211	GM12891	blood:	n/a	chr8:103001078-103001100
6	BHLHE40	chr8:103000758-103001458	GM12878	blood:	n/a	n/a
7	EBF1	chr8:103000551-103001677	GM12878	blood:	n/a	chr8:103001031-103001042 chr8:103001033-103001042 chr8:103001032-103001042
8	CEBPB	chr8:103000707-103001462	GM12878	blood:	n/a	n/a
9	EP300	chr8:103000837-103001511	GM12878	blood:	n/a	n/a
10	ZNF143	chr8:103000889-103001489	GM12878	blood:	n/a	n/a
11	ZNF384	chr8:103000243-103001237	K562	blood:	n/a	n/a
12	YY1	chr8:103000911-103001218	GM12878	blood:	n/a	chr8:103001078-103001100
13	CUX1	chr8:103000826-103001576	GM12878	blood:	n/a	n/a
14	TCF12	chr8:103000855-103001293	GM12878	blood:	n/a	n/a
15	WRNIP1	chr8:103001065-103001525	GM12878	blood:	n/a	n/a
16	BCL11A	chr8:103000866-103001198	GM12878	blood:	n/a	chr8:103000892-103000901
17	CHD2	chr8:103000722-103001255	GM12878	blood:	n/a	n/a
18	EBF1	chr8:103000734-103001551	GM12878	blood:	n/a	chr8:103001031-103001042 chr8:103001033-103001042 chr8:103001032-103001042
19	CTCF	chr8:103001040-103001190	GM12865	blood:	n/a	chr8:103001114-103001122
20	EP300	chr8:103000766-103001561	GM12878	blood:	n/a	n/a
21	TBL1XR1	chr8:103000695-103001202	GM12878	blood:	n/a	n/a
22	EBF1	chr8:103000762-103001511	GM12878	blood:	n/a	chr8:103001031-103001042 chr8:103001033-103001042 chr8:103001032-103001042
23	MAZ	chr8:103000928-103001631	GM12878	blood:	n/a	n/a
24	ZNF384	chr8:103000739-103001577	GM12878	blood:	n/a	n/a
25	TBP	chr8:103000568-103001608	GM12878	blood:	n/a	n/a
26	MXI1	chr8:103000741-103001507	GM12878	blood:	n/a	n/a
27	NFIC	chr8:103000645-103001506	GM12878	blood:	n/a	n/a
28	MAX	chr8:103000806-103001489	GM12878	blood:	n/a	n/a
29	SMC3	chr8:103000746-103001563	GM12878	blood:	n/a	chr8:103001113-103001127
30	RELA	chr8:103000596-103001495	GM12878	blood:	n/a	n/a
31	ATF2	chr8:103000618-103001553	GM12878	blood:	n/a	n/a
32	RUNX3	chr8:103000702-103001500	GM12878	blood:	n/a	n/a
33	TCF12	chr8:103000919-103001189	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
NCALD	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10105250	0.89[ASN][1000 genomes]
rs10505016	0.92[ASN][1000 genomes]
rs1269713	0.88[ASN][1000 genomes]
rs1269714	0.88[ASN][1000 genomes]
rs1269715	0.88[ASN][1000 genomes]
rs1269716	0.88[ASN][1000 genomes]
rs1351063	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2187193	0.88[ASN][1000 genomes]
rs2226768	0.88[ASN][1000 genomes]
rs2387330	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2860153	0.84[ASN][1000 genomes]
rs4734051	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734610	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734611	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734613	0.87[ASN][1000 genomes]
rs6468808	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6990972	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7357558	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7829974	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833943	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr8:102990400-103008000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:102992600-103005600	Weak transcription	Left Ventricle	heart
3	chr8:102992600-103007600	Weak transcription	Lung	lung
4	chr8:102992800-103001200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:102993200-103004000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:102993200-103004200	Weak transcription	Ovary	ovary
7	chr8:102993200-103008400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:102994200-103007800	Weak transcription	Right Ventricle	heart
9	chr8:102997000-103004000	Enhancers	Fetal Heart	heart
10	chr8:102997200-103001800	Weak transcription	Aorta	Aorta
11	chr8:102997400-103003800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:102999400-103004000	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:103000000-103007800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:103000200-103001800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:103000800-103002600	Enhancers	GM12878-XiMat	blood
16	chr8:103000800-103010000	Weak transcription	Fetal Brain Male	brain
17	chr8:103001000-103001200	Enhancers	K562	blood
18	chr8:103001000-103002000	Enhancers	HSMMtube	muscle

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