Variant report

Variant	rs7819806
Chromosome Location	chr8:48105993-48105994
allele	A/C
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	RAD21	chr8:48105619-48106019	A549	lung:	n/a	chr8:48105820-48105839
2	CTCF	chr8:48105498-48106158	HCT-116	colon:	n/a	n/a
3	CTCF	chr8:48105632-48105993	K562	blood:	n/a	n/a
4	RAD21	chr8:48105666-48106047	MCF-7	breast:	n/a	chr8:48105820-48105839
5	RAD21	chr8:48105521-48106131	HCT-116	colon:	n/a	chr8:48105820-48105839 chr8:48106059-48106072
6	CTCF	chr8:48105581-48106045	T-47D	breast:	n/a	n/a
7	CTCF	chr8:48105513-48106365	A549	lung:	n/a	n/a
8	CTCF	chr8:48105615-48106121	MCF-7	breast:	n/a	n/a
9	RAD21	chr8:48105456-48106165	MCF-7	breast:	n/a	chr8:48105820-48105839 chr8:48106059-48106072
10	CTCF	chr8:48105900-48106050	GM12871	blood:	n/a	n/a
11	RAD21	chr8:48105615-48106013	ECC-1	luminal epithelium:	n/a	chr8:48105820-48105839
12	ELF1	chr8:48105554-48106020	MCF-7	breast:	n/a	chr8:48105753-48105766
13	CTCF	chr8:48105522-48106092	MCF-7	breast:	n/a	n/a
14	RAD21	chr8:48105472-48106116	HCT-116	colon:	n/a	chr8:48105820-48105839 chr8:48106059-48106072

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48105045..48107718-chr8:48171845..48174415,2	MCF-7	breast:
2	chr8:48105532..48109361-chr8:48112947..48117010,3	K562	blood:

Variant related genes	Relation type
ATP6V1G1P2	TF binding region
ENSG00000164808	Chromatin interaction
ENSG00000215177	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10086987	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10102598	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10808752	0.81[EUR][1000 genomes]
rs10957074	0.81[EUR][1000 genomes]
rs11774001	0.81[EUR][1000 genomes]
rs11778117	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11779308	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11779423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11781727	0.81[EUR][1000 genomes]
rs11782287	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11783141	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs11785228	0.81[EUR][1000 genomes]
rs12541086	0.92[CEU][hapmap];0.95[TSI][hapmap]
rs12543823	0.82[EUR][1000 genomes]
rs12550067	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12682269	0.82[EUR][1000 genomes]
rs13259872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13259913	0.81[EUR][1000 genomes]
rs13273902	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2087656	0.86[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs2172121	0.81[EUR][1000 genomes]
rs2355357	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2362554	0.80[EUR][1000 genomes]
rs34099416	0.81[EUR][1000 genomes]
rs35424826	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35931929	0.89[ASN][1000 genomes]
rs36103744	0.83[EUR][1000 genomes]
rs4242439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4388466	0.96[CEU][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs4495437	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4498545	0.92[CEU][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs4872957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.98[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873102	0.82[EUR][1000 genomes]
rs4873106	0.81[EUR][1000 genomes]
rs56099826	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6472229	0.86[EUR][1000 genomes]
rs6981790	0.81[EUR][1000 genomes]
rs6990123	0.87[ASW][hapmap];0.85[CHB][hapmap];0.95[GIH][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6994218	0.81[EUR][1000 genomes]
rs7012341	0.80[EUR][1000 genomes]
rs7016791	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs7826284	0.81[EUR][1000 genomes]
rs7839134	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs902619	0.92[CEU][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025638	chr8:47361534-48176434	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv530881	chr8:47456285-48129198	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1020467	chr8:47456484-48174712	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv539589	chr8:47456484-48174712	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv890847	chr8:47937950-48124855	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv916549	chr8:47982642-48223882	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv1031982	chr8:47997015-48110595	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48101000-48116000	Weak transcription	Gastric	stomach
2	chr8:48101200-48109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:48101200-48110800	Weak transcription	Aorta	Aorta
4	chr8:48101200-48111600	Weak transcription	Right Atrium	heart
5	chr8:48101200-48115000	Weak transcription	Pancreas	Pancrea
6	chr8:48104000-48108600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:48104000-48110600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:48104000-48115000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:48104200-48109600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:48104200-48113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:48104400-48113800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:48105600-48106000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:48105600-48106000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:48105600-48106000	ZNF genes & repeats	Esophagus	oesophagus
15	chr8:48105600-48106000	Enhancers	Ovary	ovary
16	chr8:48105600-48106000	Enhancers	Spleen	Spleen
17	chr8:48105600-48106200	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links