Variant report

Variant	rs74076520
Chromosome Location	chr1:62552321-62552322
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10127514	1.00[ASN][1000 genomes]
rs10127819	1.00[ASN][1000 genomes]
rs10399839	0.86[EUR][1000 genomes]
rs10399879	1.00[EUR][1000 genomes]
rs11207899	1.00[ASN][1000 genomes]
rs17123117	1.00[ASN][1000 genomes]
rs28430757	1.00[ASN][1000 genomes]
rs3934216	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41289432	1.00[ASN][1000 genomes]
rs58677444	1.00[ASN][1000 genomes]
rs58987719	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60496532	0.86[EUR][1000 genomes]
rs60941191	1.00[ASN][1000 genomes]
rs6658506	0.86[EUR][1000 genomes]
rs74076514	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74076516	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74076518	1.00[ASN][1000 genomes]
rs74076523	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74076524	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74076525	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74076548	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7526702	0.86[EUR][1000 genomes]
rs7551434	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv461650	chr1:62542717-62657530	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv546417	chr1:62542717-62657530	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62484400-62562200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:62508200-62628400	Weak transcription	Colonic Mucosa	Colon
3	chr1:62515400-62552400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:62532400-62552400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:62532600-62552400	Weak transcription	Esophagus	oesophagus
6	chr1:62532600-62557400	Weak transcription	Spleen	Spleen
7	chr1:62532600-62568200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:62532600-62569200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:62532600-62587600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:62532800-62552800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:62532800-62569000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:62534400-62555000	Weak transcription	Ovary	ovary
13	chr1:62534400-62555400	Weak transcription	Left Ventricle	heart
14	chr1:62536000-62554400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:62536200-62619400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:62536800-62557400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:62536800-62566000	Weak transcription	Gastric	stomach
18	chr1:62541600-62563000	Weak transcription	Lung	lung
19	chr1:62542400-62586800	Weak transcription	NHEK	skin
20	chr1:62542400-62587400	Weak transcription	HMEC	breast
21	chr1:62542600-62555400	Weak transcription	Fetal Heart	heart
22	chr1:62542600-62563000	Weak transcription	Aorta	Aorta
23	chr1:62543400-62552800	Weak transcription	Brain Anterior Caudate	brain
24	chr1:62543400-62569400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:62544000-62575800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:62544400-62555600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:62544800-62553800	Weak transcription	HepG2	liver
28	chr1:62545000-62574800	Weak transcription	Fetal Kidney	kidney
29	chr1:62545400-62555600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:62545400-62606800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:62545600-62554000	Weak transcription	Liver	Liver
32	chr1:62547000-62554000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:62548200-62594000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:62548400-62629800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:62548800-62553600	Strong transcription	Fetal Intestine Small	intestine
36	chr1:62549800-62555600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:62550000-62552600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:62550000-62553000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:62550000-62553000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr1:62550000-62555600	Strong transcription	Fetal Intestine Large	intestine
41	chr1:62550000-62557000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:62550200-62554400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:62550200-62554400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr1:62550200-62607800	Weak transcription	Right Ventricle	heart
45	chr1:62550400-62554400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:62550400-62555000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:62550600-62558600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:62551000-62552400	Weak transcription	Fetal Stomach	stomach
49	chr1:62551000-62552800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:62551000-62555400	Weak transcription	Right Atrium	heart

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