Variant report

Variant	rs7595362
Chromosome Location	chr2:37252709-37252710
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:
2	chr2:37250519..37253429-chr2:85770477..85772159,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048628	0.82[EUR][1000 genomes]
rs1008838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10167453	0.85[EUR][1000 genomes]
rs10177166	0.83[EUR][1000 genomes]
rs10208258	0.81[ASN][1000 genomes]
rs10495868	0.90[ASN][1000 genomes]
rs10865120	0.87[ASN][1000 genomes]
rs11124557	0.84[ASN][1000 genomes]
rs11675109	0.81[ASN][1000 genomes]
rs11690477	0.81[ASN][1000 genomes]
rs12612838	0.90[ASN][1000 genomes]
rs13432823	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17332720	0.82[EUR][1000 genomes]
rs2541000	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2706805	0.81[ASN][1000 genomes]
rs2706811	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2706813	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35326596	0.93[ASN][1000 genomes]
rs4635515	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4670651	0.83[ASN][1000 genomes]
rs59420011	0.81[ASN][1000 genomes]
rs60022493	0.85[ASN][1000 genomes]
rs7581702	0.90[AFR][1000 genomes];0.98[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
3	chr2:37219200-37256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:37224000-37256000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:37226800-37256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
11	chr2:37233000-37253000	Weak transcription	NHEK	skin
12	chr2:37237600-37255400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:37238200-37255200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:37238400-37260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:37240200-37260800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:37240400-37254200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:37240800-37281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:37241000-37272600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:37241200-37253000	Weak transcription	Fetal Kidney	kidney
24	chr2:37241200-37253000	Weak transcription	HMEC	breast
25	chr2:37241200-37256600	Weak transcription	Gastric	stomach
26	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:37241400-37299600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:37242000-37287000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:37242200-37253200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:37242200-37265800	Strong transcription	Liver	Liver
31	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:37242800-37256200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:37243000-37253200	Weak transcription	Brain Angular Gyrus	brain
34	chr2:37244200-37255200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:37244600-37256200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:37244800-37256000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:37245000-37261400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:37245400-37260000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:37246000-37253200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:37246000-37253200	Weak transcription	Dnd41	blood
41	chr2:37246200-37253200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:37246200-37283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:37246400-37253200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:37246800-37279800	Weak transcription	Pancreas	Pancrea
45	chr2:37247000-37279200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:37247200-37256600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:37247800-37253200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:37247800-37253400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:37248400-37255400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:37248600-37253200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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