Variant report

Variant	rs12070254
Chromosome Location	chr1:62534225-62534226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10157504	1.00[CEU][hapmap]
rs10493314	0.91[GIH][hapmap]
rs11806656	1.00[CEU][hapmap]
rs12072096	0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17123003	0.91[GIH][hapmap]
rs17123032	0.81[YRI][hapmap]
rs17123133	1.00[CEU][hapmap]
rs2476186	1.00[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2498979	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56811366	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665231	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9436655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:62484400-62562200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:62495200-62544800	Weak transcription	Liver	Liver
5	chr1:62508200-62628400	Weak transcription	Colonic Mucosa	Colon
6	chr1:62515400-62552400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:62519000-62541600	Weak transcription	HMEC	breast
8	chr1:62519000-62550000	Weak transcription	Primary T cells from cord blood	blood
9	chr1:62519000-62550000	Weak transcription	Pancreas	Pancrea
10	chr1:62519000-62552000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:62521800-62546200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:62530800-62541400	Weak transcription	Fetal Kidney	kidney
13	chr1:62532000-62534600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:62532400-62552400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:62532600-62544600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:62532600-62545000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:62532600-62548800	Weak transcription	Fetal Intestine Small	intestine
18	chr1:62532600-62550000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:62532600-62550600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:62532600-62552400	Weak transcription	Esophagus	oesophagus
21	chr1:62532600-62557400	Weak transcription	Spleen	Spleen
22	chr1:62532600-62568200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:62532600-62569200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:62532600-62587600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:62532800-62545000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:62532800-62552800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr1:62532800-62569000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:62533400-62534600	Enhancers	Right Atrium	heart
29	chr1:62533400-62534800	Enhancers	Colon Smooth Muscle	Colon
30	chr1:62533400-62550000	Weak transcription	Fetal Intestine Large	intestine
31	chr1:62533600-62534400	Flanking Active TSS	Fetal Heart	heart
32	chr1:62533600-62534400	Enhancers	Left Ventricle	heart
33	chr1:62533600-62534400	Enhancers	Ovary	ovary
34	chr1:62533600-62534800	Enhancers	Psoas Muscle	Psoas
35	chr1:62533600-62535200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:62533600-62536000	Enhancers	Adipose Nuclei	Adipose
37	chr1:62533600-62536200	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:62533800-62534400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:62533800-62535200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:62533800-62535400	Enhancers	Fetal Muscle Leg	muscle
41	chr1:62534000-62534400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:62534000-62534400	Enhancers	Aorta	Aorta
43	chr1:62534000-62534400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:62534000-62534400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr1:62534000-62534600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:62534000-62534600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr1:62534000-62534800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr1:62534000-62535000	Enhancers	Fetal Stomach	stomach
49	chr1:62534000-62535600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:62534000-62536200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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