Variant report

Variant	rs58651394
Chromosome Location	chr7:27881058-27881059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12154776	0.81[ASN][1000 genomes]
rs12700848	0.88[ASN][1000 genomes]
rs17155954	0.91[ASN][1000 genomes]
rs2299105	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34015232	0.82[ASN][1000 genomes]
rs55901354	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56916239	0.89[ASN][1000 genomes]
rs56995723	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58546705	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58947798	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59041966	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59614135	0.86[ASN][1000 genomes]
rs60636413	0.89[ASN][1000 genomes]
rs73684028	0.86[ASN][1000 genomes]
rs73684030	0.86[ASN][1000 genomes]
rs73684035	0.89[ASN][1000 genomes]
rs73684037	0.89[ASN][1000 genomes]
rs73684045	0.89[ASN][1000 genomes]
rs73684048	0.89[ASN][1000 genomes]
rs73684050	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73684052	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73684053	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73684055	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73684057	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73684058	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73685827	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats 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 target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv5677	chr7:27839504-27884505	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
3	chr7:27836400-27882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:27847600-27885200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:27850200-27881400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:27854200-27882200	Weak transcription	Brain Substantia Nigra	brain
7	chr7:27856000-27882200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:27858200-27882600	Weak transcription	Esophagus	oesophagus
9	chr7:27860000-27881800	Weak transcription	Colonic Mucosa	Colon
10	chr7:27866000-27884600	Strong transcription	Primary B cells from cord blood	blood
11	chr7:27866200-27882200	Weak transcription	NHLF	lung
12	chr7:27869600-27882800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr7:27870600-27891800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:27870800-27882200	Weak transcription	Brain Germinal Matrix	brain
15	chr7:27871400-27889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:27872000-27881800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:27872200-27881600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:27872800-27881400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:27872800-27881800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:27872800-27881800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:27872800-27882000	Weak transcription	Liver	Liver
22	chr7:27872800-27886000	Weak transcription	HMEC	breast
23	chr7:27872800-27890000	Weak transcription	Fetal Lung	lung
24	chr7:27873000-27882600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:27873800-27886200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:27874000-27883200	Strong transcription	Fetal Stomach	stomach
27	chr7:27874200-27881400	Weak transcription	NH-A	brain
28	chr7:27874200-27882000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:27874200-27882000	Weak transcription	HSMMtube	muscle
30	chr7:27874400-27888600	Weak transcription	Brain Angular Gyrus	brain
31	chr7:27874600-27881800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:27874600-27882600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:27874600-27882600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:27874800-27882200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:27875200-27913000	Weak transcription	Right Atrium	heart
36	chr7:27875400-27881800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:27875400-27881800	Weak transcription	NHDF-Ad	bronchial
38	chr7:27875800-27881400	Weak transcription	HUVEC	blood vessel
39	chr7:27876000-27881200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:27876200-27913000	Weak transcription	Fetal Heart	heart
41	chr7:27876400-27886200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:27877400-27882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:27877600-27882600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:27877800-27882000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr7:27878000-27882200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:27878400-27881200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:27878800-27884800	Weak transcription	Thymus	Thymus
48	chr7:27879000-27884800	Weak transcription	Fetal Intestine Large	intestine
49	chr7:27879200-27881200	Genic enhancers	Primary T cells from cord blood	blood
50	chr7:27880000-27881400	Weak transcription	Colon Smooth Muscle	Colon

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