Variant report

Variant	rs10227053
Chromosome Location	chr7:64266573-64266574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10215071	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10225733	0.83[EUR][1000 genomes]
rs10227311	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10275714	0.81[LWK][hapmap]
rs10276515	0.81[EUR][1000 genomes]
rs10807685	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs12154807	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13224405	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13227838	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13247620	0.93[AMR][1000 genomes]
rs13247815	1.00[AMR][1000 genomes]
rs1404453	1.00[JPT][hapmap]
rs1608716	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs1608717	1.00[JPT][hapmap]
rs1815164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2418462	0.81[LWK][hapmap]
rs3807070	1.00[JPT][hapmap]
rs4607487	1.00[JPT][hapmap]
rs4618579	1.00[JPT][hapmap]
rs4717229	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs4718173	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs55990963	0.81[EUR][1000 genomes]
rs62455845	0.81[EUR][1000 genomes]
rs62455846	0.81[EUR][1000 genomes]
rs62455848	0.81[EUR][1000 genomes]
rs62455852	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62455853	0.94[EUR][1000 genomes]
rs62456786	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62456790	0.84[ASN][1000 genomes]
rs62456797	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62456798	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62456799	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62456800	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62456802	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62456803	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62456816	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62456827	0.93[AMR][1000 genomes]
rs62456837	0.86[AMR][1000 genomes]
rs62456838	0.93[AMR][1000 genomes]
rs6460186	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6460207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6460219	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs6959172	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6964405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7790578	1.00[JPT][hapmap]
rs7790631	0.87[LWK][hapmap]
rs7799463	1.00[JPT][hapmap]
rs7809677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7810102	1.00[JPT][hapmap]

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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64255400-64277200	Weak transcription	Aorta	Aorta
2	chr7:64255800-64268400	Weak transcription	Right Ventricle	heart
3	chr7:64255800-64272600	Weak transcription	NHLF	lung
4	chr7:64255800-64278800	Weak transcription	Placenta	Placenta
5	chr7:64255800-64293200	Weak transcription	NH-A	brain
6	chr7:64255800-64293400	Weak transcription	Psoas Muscle	Psoas
7	chr7:64256000-64285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:64256000-64294400	Weak transcription	Fetal Kidney	kidney
9	chr7:64256400-64276800	Weak transcription	HMEC	breast
10	chr7:64256600-64268200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:64256800-64269600	Weak transcription	Gastric	stomach
12	chr7:64256800-64277200	Weak transcription	Esophagus	oesophagus
13	chr7:64256800-64277200	Weak transcription	Small Intestine	intestine
14	chr7:64256800-64278800	Weak transcription	Spleen	Spleen
15	chr7:64256800-64283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:64256800-64283800	Weak transcription	Pancreas	Pancrea
17	chr7:64256800-64286200	Weak transcription	Brain Substantia Nigra	brain
18	chr7:64256800-64292200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:64257400-64283600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:64257800-64266800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:64259600-64267200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr7:64260000-64267200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:64260200-64277000	Weak transcription	NHEK	skin
24	chr7:64260400-64272400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:64260600-64268200	Weak transcription	Brain Angular Gyrus	brain
26	chr7:64260600-64272200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:64260600-64272200	Weak transcription	Ovary	ovary
28	chr7:64260600-64286200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:64260600-64288800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:64260600-64292400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:64260800-64271600	Weak transcription	Adipose Nuclei	Adipose
32	chr7:64260800-64271600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:64260800-64272000	Weak transcription	HSMMtube	muscle
34	chr7:64260800-64277400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:64260800-64284000	Weak transcription	Left Ventricle	heart
36	chr7:64260800-64284400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:64260800-64286400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:64260800-64288600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr7:64260800-64291400	Weak transcription	Liver	Liver
40	chr7:64261000-64272000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:64261000-64272200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:64261000-64295400	Weak transcription	Osteobl	bone
43	chr7:64262000-64272000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:64262200-64266800	Strong transcription	Primary T cells from cord blood	blood
45	chr7:64262400-64277200	Weak transcription	HSMM	muscle
46	chr7:64262800-64267800	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:64262800-64291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:64263000-64266800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:64263200-64271600	Weak transcription	Fetal Lung	lung
50	chr7:64263200-64272200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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