Variant report

Variant	rs74076523
Chromosome Location	chr1:62552535-62552536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10127514	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10127819	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11207899	1.00[ASN][1000 genomes]
rs17123117	1.00[ASN][1000 genomes]
rs28430757	1.00[ASN][1000 genomes]
rs3934216	1.00[ASN][1000 genomes]
rs41289432	1.00[ASN][1000 genomes]
rs58677444	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58987719	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60941191	1.00[ASN][1000 genomes]
rs74076514	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74076516	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74076518	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74076520	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74076524	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74076525	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74076548	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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:64 , 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	chr1:62532600-62557400	Weak transcription	Spleen	Spleen
4	chr1:62532600-62568200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:62532600-62569200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:62532600-62587600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:62532800-62552800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:62532800-62569000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:62534400-62555000	Weak transcription	Ovary	ovary
10	chr1:62534400-62555400	Weak transcription	Left Ventricle	heart
11	chr1:62536000-62554400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:62536200-62619400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:62536800-62557400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:62536800-62566000	Weak transcription	Gastric	stomach
15	chr1:62541600-62563000	Weak transcription	Lung	lung
16	chr1:62542400-62586800	Weak transcription	NHEK	skin
17	chr1:62542400-62587400	Weak transcription	HMEC	breast
18	chr1:62542600-62555400	Weak transcription	Fetal Heart	heart
19	chr1:62542600-62563000	Weak transcription	Aorta	Aorta
20	chr1:62543400-62552800	Weak transcription	Brain Anterior Caudate	brain
21	chr1:62543400-62569400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:62544000-62575800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:62544400-62555600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:62544800-62553800	Weak transcription	HepG2	liver
25	chr1:62545000-62574800	Weak transcription	Fetal Kidney	kidney
26	chr1:62545400-62555600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:62545400-62606800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:62545600-62554000	Weak transcription	Liver	Liver
29	chr1:62547000-62554000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:62548200-62594000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:62548400-62629800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:62548800-62553600	Strong transcription	Fetal Intestine Small	intestine
33	chr1:62549800-62555600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:62550000-62552600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:62550000-62553000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:62550000-62553000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr1:62550000-62555600	Strong transcription	Fetal Intestine Large	intestine
38	chr1:62550000-62557000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:62550200-62554400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:62550200-62554400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr1:62550200-62607800	Weak transcription	Right Ventricle	heart
42	chr1:62550400-62554400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:62550400-62555000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:62550600-62558600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:62551000-62552800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:62551000-62555400	Weak transcription	Right Atrium	heart
47	chr1:62551400-62552600	Weak transcription	Pancreas	Pancrea
48	chr1:62551400-62576000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:62551600-62553200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:62551600-62553600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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