Variant report

Variant	rs6965217
Chromosome Location	chr7:64265860-64265861
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10236712	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236731	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251093	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10251096	1.00[AMR][1000 genomes]
rs10255015	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255285	1.00[AMR][1000 genomes]
rs10266341	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10266823	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10266953	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267569	1.00[AMR][1000 genomes]
rs10267592	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10275714	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278712	1.00[AMR][1000 genomes]
rs10282236	1.00[AMR][1000 genomes]
rs11978309	1.00[AMR][1000 genomes]
rs12155450	1.00[AMR][1000 genomes]
rs12671429	1.00[AMR][1000 genomes]
rs13237903	1.00[AMR][1000 genomes]
rs13247714	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1446884	1.00[AMR][1000 genomes]
rs1446885	1.00[AMR][1000 genomes]
rs1464925	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1464926	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1525811	1.00[AMR][1000 genomes]
rs1608896	1.00[YRI][hapmap]
rs1815168	1.00[AMR][1000 genomes]
rs1852205	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1852206	1.00[AMR][1000 genomes]
rs1976918	1.00[AMR][1000 genomes]
rs2015938	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2418462	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2418463	1.00[AMR][1000 genomes]
rs2418464	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4236203	1.00[AMR][1000 genomes]
rs4327747	1.00[AMR][1000 genomes]
rs4327748	1.00[AMR][1000 genomes]
rs4429995	1.00[AMR][1000 genomes]
rs4483043	1.00[AMR][1000 genomes]
rs4490718	1.00[AMR][1000 genomes]
rs4579410	1.00[AMR][1000 genomes]
rs4639394	1.00[AMR][1000 genomes]
rs4717214	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4717215	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4717218	1.00[AMR][1000 genomes]
rs4718117	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718118	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718119	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718120	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718121	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718126	1.00[AMR][1000 genomes]
rs4718128	1.00[AMR][1000 genomes]
rs4718130	1.00[YRI][hapmap]
rs4718132	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4718133	1.00[AMR][1000 genomes]
rs4718134	1.00[AMR][1000 genomes]
rs4718136	1.00[AMR][1000 genomes]
rs55960866	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61740107	1.00[AMR][1000 genomes]
rs6460187	1.00[AMR][1000 genomes]
rs6460188	1.00[AMR][1000 genomes]
rs6460190	1.00[AMR][1000 genomes]
rs6460193	1.00[AMR][1000 genomes]
rs6460194	1.00[AMR][1000 genomes]
rs6942695	1.00[AMR][1000 genomes]
rs6943322	1.00[AMR][1000 genomes]
rs6943573	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951133	1.00[AMR][1000 genomes]
rs6951316	1.00[AMR][1000 genomes]
rs6953310	1.00[AMR][1000 genomes]
rs6956506	1.00[AMR][1000 genomes]
rs6957671	1.00[AMR][1000 genomes]
rs6964400	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971507	1.00[AMR][1000 genomes]
rs6976049	1.00[AMR][1000 genomes]
rs6976060	1.00[AMR][1000 genomes]
rs7785568	1.00[AMR][1000 genomes]
rs7789308	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7790245	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7791951	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7799440	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7808059	1.00[AMR][1000 genomes]
rs7809431	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7810921	1.00[AMR][1000 genomes]
rs9654821	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654823	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654824	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9718984	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
10	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
13	esv3394685	chr7:64150166-64268675	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv888281	chr7:64250409-64295884	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64255400-64277200	Weak transcription	Aorta	Aorta
2	chr7:64255600-64266400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:64255800-64268400	Weak transcription	Right Ventricle	heart
4	chr7:64255800-64272600	Weak transcription	NHLF	lung
5	chr7:64255800-64278800	Weak transcription	Placenta	Placenta
6	chr7:64255800-64293200	Weak transcription	NH-A	brain
7	chr7:64255800-64293400	Weak transcription	Psoas Muscle	Psoas
8	chr7:64256000-64285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:64256000-64294400	Weak transcription	Fetal Kidney	kidney
10	chr7:64256400-64276800	Weak transcription	HMEC	breast
11	chr7:64256600-64266000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:64256600-64266000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:64256600-64268200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:64256800-64266400	Weak transcription	Fetal Brain Male	brain
15	chr7:64256800-64269600	Weak transcription	Gastric	stomach
16	chr7:64256800-64277200	Weak transcription	Esophagus	oesophagus
17	chr7:64256800-64277200	Weak transcription	Small Intestine	intestine
18	chr7:64256800-64278800	Weak transcription	Spleen	Spleen
19	chr7:64256800-64283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:64256800-64283800	Weak transcription	Pancreas	Pancrea
21	chr7:64256800-64286200	Weak transcription	Brain Substantia Nigra	brain
22	chr7:64256800-64292200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:64257400-64283600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:64257800-64266800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:64259600-64267200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr7:64260000-64267200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:64260200-64277000	Weak transcription	NHEK	skin
28	chr7:64260400-64272400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:64260600-64268200	Weak transcription	Brain Angular Gyrus	brain
30	chr7:64260600-64272200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:64260600-64272200	Weak transcription	Ovary	ovary
32	chr7:64260600-64286200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:64260600-64288800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:64260600-64292400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:64260800-64266200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:64260800-64271600	Weak transcription	Adipose Nuclei	Adipose
37	chr7:64260800-64271600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:64260800-64272000	Weak transcription	HSMMtube	muscle
39	chr7:64260800-64277400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:64260800-64284000	Weak transcription	Left Ventricle	heart
41	chr7:64260800-64284400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:64260800-64286400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:64260800-64288600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:64260800-64291400	Weak transcription	Liver	Liver
45	chr7:64261000-64272000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:64261000-64272200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:64261000-64295400	Weak transcription	Osteobl	bone
48	chr7:64262000-64272000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:64262200-64266800	Strong transcription	Primary T cells from cord blood	blood
50	chr7:64262400-64266000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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