Variant report

Variant	rs11770219
Chromosome Location	chr7:64268859-64268860
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10155953	0.81[EUR][1000 genomes]
rs10949938	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11760270	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11983033	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1405006	0.86[ASN][1000 genomes]
rs1608899	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4518551	0.82[ASN][1000 genomes]
rs4718114	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718122	0.82[ASN][1000 genomes]
rs55683815	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61512917	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61703184	0.80[AMR][1000 genomes]
rs6956129	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6956610	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6961445	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73126358	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73142704	0.80[ASN][1000 genomes]
rs73142715	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73142719	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73142749	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
14	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
15	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
16	nsv970859	chr7:64267971-64276161	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv3433487	chr7:64268267-64271965	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3406913	chr7:64268542-64271390	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64255400-64277200	Weak transcription	Aorta	Aorta
2	chr7:64255800-64272600	Weak transcription	NHLF	lung
3	chr7:64255800-64278800	Weak transcription	Placenta	Placenta
4	chr7:64255800-64293200	Weak transcription	NH-A	brain
5	chr7:64255800-64293400	Weak transcription	Psoas Muscle	Psoas
6	chr7:64256000-64285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:64256000-64294400	Weak transcription	Fetal Kidney	kidney
8	chr7:64256400-64276800	Weak transcription	HMEC	breast
9	chr7:64256800-64269600	Weak transcription	Gastric	stomach
10	chr7:64256800-64277200	Weak transcription	Esophagus	oesophagus
11	chr7:64256800-64277200	Weak transcription	Small Intestine	intestine
12	chr7:64256800-64278800	Weak transcription	Spleen	Spleen
13	chr7:64256800-64283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:64256800-64283800	Weak transcription	Pancreas	Pancrea
15	chr7:64256800-64286200	Weak transcription	Brain Substantia Nigra	brain
16	chr7:64256800-64292200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:64257400-64283600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:64260200-64277000	Weak transcription	NHEK	skin
19	chr7:64260400-64272400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:64260600-64272200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:64260600-64272200	Weak transcription	Ovary	ovary
22	chr7:64260600-64286200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:64260600-64288800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:64260600-64292400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:64260800-64271600	Weak transcription	Adipose Nuclei	Adipose
26	chr7:64260800-64271600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:64260800-64272000	Weak transcription	HSMMtube	muscle
28	chr7:64260800-64277400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:64260800-64284000	Weak transcription	Left Ventricle	heart
30	chr7:64260800-64284400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:64260800-64286400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:64260800-64288600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:64260800-64291400	Weak transcription	Liver	Liver
34	chr7:64261000-64272000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:64261000-64272200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:64261000-64295400	Weak transcription	Osteobl	bone
37	chr7:64262000-64272000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:64262400-64277200	Weak transcription	HSMM	muscle
39	chr7:64262800-64291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:64263200-64271600	Weak transcription	Fetal Lung	lung
41	chr7:64263200-64272200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:64263400-64271200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:64263400-64271200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr7:64263400-64271800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:64263400-64272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:64263400-64284000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:64263600-64269000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:64263800-64269000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr7:64264000-64271600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:64264400-64271600	Weak transcription	Rectal Mucosa Donor 29	rectum

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