Variant report

Variant	rs2916763
Chromosome Location	chr8:6289658-6289659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6286384..6290104-chr8:6563339..6566818,4	MCF-7	breast:
2	chr8:6283795..6285745-chr8:6287831..6290125,2	K562	blood:

Variant related genes	Relation type
ENSG00000249898	Chromatin interaction
ENSG00000155189	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2247108	1.00[AMR][1000 genomes]
rs2916721	1.00[AMR][1000 genomes]
rs2916744	1.00[AMR][1000 genomes]
rs2916751	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916767	1.00[AMR][1000 genomes]
rs2916768	1.00[AMR][1000 genomes]
rs2916769	1.00[AMR][1000 genomes]
rs2920667	1.00[AMR][1000 genomes]
rs2920682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2920683	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2920684	1.00[AMR][1000 genomes]
rs2920687	1.00[AMR][1000 genomes]
rs2922827	1.00[AMR][1000 genomes]
rs2922828	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2922830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2922831	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2922834	1.00[AMR][1000 genomes]
rs2922838	1.00[AMR][1000 genomes]
rs2979640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979643	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979644	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979646	1.00[AMR][1000 genomes]
rs2979657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3020267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3020268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3020269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3020271	1.00[AMR][1000 genomes]
rs3020279	1.00[AMR][1000 genomes]
rs35551093	1.00[AMR][1000 genomes]
rs59254998	1.00[AMR][1000 genomes]
rs73661727	1.00[AMR][1000 genomes]
rs7832063	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv949501	chr8:6081704-6303511	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic 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	11 gene(s)	inside rSNPs	diseases
7	nsv1024103	chr8:6124125-6303511	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1026950	chr8:6127991-6303511	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1025734	chr8:6128828-6303511	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1022940	chr8:6128828-6304814	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1028552	chr8:6129221-6303511	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1026004	chr8:6144798-6307692	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv539431	chr8:6144798-6307692	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv933107	chr8:6173244-6312807	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv482828	chr8:6182711-6355710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1018882	chr8:6204857-6289937	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers 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	6 gene(s)	inside rSNPs	diseases
17	nsv890055	chr8:6237397-6351252	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv531468	chr8:6248682-6309194	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv524404	chr8:6263083-6291485	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv528663	chr8:6279438-6291485	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv523681	chr8:6279511-6296550	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
24	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
25	nsv517509	chr8:6287342-6291485	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv526687	chr8:6287342-6291524	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:6265200-6302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:6265400-6303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:6265600-6290000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:6267600-6291400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:6267600-6302400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:6268800-6291600	Weak transcription	HSMMtube	muscle
8	chr8:6269800-6290200	Weak transcription	NH-A	brain
9	chr8:6270200-6295000	Weak transcription	Fetal Brain Female	brain
10	chr8:6273200-6291400	Weak transcription	Aorta	Aorta
11	chr8:6273200-6291600	Weak transcription	Esophagus	oesophagus
12	chr8:6273600-6302800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:6274200-6290400	Weak transcription	HMEC	breast
14	chr8:6274400-6300200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:6276000-6289800	Weak transcription	Brain Germinal Matrix	brain
16	chr8:6278600-6305400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:6279000-6291800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:6279200-6291400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:6279400-6290200	Weak transcription	Lung	lung
20	chr8:6279400-6290400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:6279400-6291400	Weak transcription	Spleen	Spleen
22	chr8:6279400-6291600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:6279600-6290200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:6281600-6290000	Weak transcription	A549	lung
25	chr8:6281800-6302200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:6282000-6300600	Weak transcription	Fetal Heart	heart
27	chr8:6282200-6292800	Weak transcription	Right Ventricle	heart
28	chr8:6282400-6290000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:6282400-6291200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:6282400-6291400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:6282600-6290200	Weak transcription	NHEK	skin
32	chr8:6282800-6290000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:6282800-6290200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:6282800-6313400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:6283000-6290000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:6283200-6290200	Weak transcription	HSMM	muscle
37	chr8:6283400-6290200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:6283400-6295000	Weak transcription	NHLF	lung
39	chr8:6283400-6299400	Weak transcription	NHDF-Ad	bronchial
40	chr8:6283600-6290000	Weak transcription	Adipose Nuclei	Adipose
41	chr8:6283600-6295000	Weak transcription	Placenta	Placenta
42	chr8:6283800-6300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:6284000-6291400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:6285600-6290800	Weak transcription	Fetal Stomach	stomach
45	chr8:6286400-6299000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr8:6286800-6290000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr8:6286800-6290000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:6287000-6291600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:6287000-6301600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:6287200-6309200	Weak transcription	Fetal Brain Male	brain

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