Variant report

Variant	rs17020143
Chromosome Location	chr2:37255806-37255807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37251052..37253037-chr2:37255174..37257744,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1007823	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10490658	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[AFR][1000 genomes]
rs10495869	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1123648	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11674811	0.85[ASN][1000 genomes]
rs11685402	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11694342	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17020125	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17020136	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17038861	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2160411	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2372788	0.91[ASN][1000 genomes]
rs3770770	0.95[JPT][hapmap]
rs3796041	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4670645	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4670649	0.93[ASN][1000 genomes]
rs59952755	0.87[ASN][1000 genomes]
rs60572996	0.90[ASN][1000 genomes]
rs61689754	0.87[ASN][1000 genomes]
rs62132559	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62133077	0.88[ASN][1000 genomes]
rs62133080	0.89[ASN][1000 genomes]
rs62133081	0.91[ASN][1000 genomes]
rs62133082	0.87[ASN][1000 genomes]
rs62133104	0.90[ASN][1000 genomes]
rs62133105	0.86[ASN][1000 genomes]
rs62133108	0.96[ASN][1000 genomes]
rs62133110	0.90[ASN][1000 genomes]
rs62135861	0.82[EUR][1000 genomes]
rs6723869	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6728062	0.87[ASN][1000 genomes]
rs6753260	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9636389	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9636428	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv581471	chr2:37213186-37257386	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv581472	chr2:37235324-37291320	Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1820206	chr2:37236821-37277811	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv978993	chr2:37251826-37260761	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
2	chr2:37219200-37256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr2:37224000-37256000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:37226800-37256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
10	chr2:37238400-37260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:37240200-37260800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:37240800-37281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:37241000-37272600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:37241200-37256600	Weak transcription	Gastric	stomach
19	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:37241400-37299600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:37242000-37287000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:37242200-37265800	Strong transcription	Liver	Liver
23	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:37242800-37256200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:37244600-37256200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:37244800-37256000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr2:37245000-37261400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr2:37245400-37260000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:37246200-37283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:37246800-37279800	Weak transcription	Pancreas	Pancrea
31	chr2:37247000-37279200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:37247200-37256600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:37248600-37256600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:37248600-37263200	Weak transcription	Hela-S3	cervix
35	chr2:37248600-37263200	Weak transcription	HUVEC	blood vessel
36	chr2:37248800-37263800	Strong transcription	Adipose Nuclei	Adipose
37	chr2:37248800-37266800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:37248800-37279200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:37248800-37290200	Weak transcription	Psoas Muscle	Psoas
40	chr2:37249000-37257600	Weak transcription	NHDF-Ad	bronchial
41	chr2:37249000-37266600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:37249000-37277400	Weak transcription	NHLF	lung
43	chr2:37249000-37291800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:37249000-37291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:37250600-37256000	Strong transcription	Osteobl	bone
46	chr2:37250600-37261200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:37250800-37256000	Strong transcription	Primary T cells from cord blood	blood
48	chr2:37250800-37256600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:37250800-37268600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:37251000-37256000	Strong transcription	HSMM	muscle

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