Variant report

Variant	rs2464700
Chromosome Location	chr2:37256839-37256840
allele	A/G
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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10084315	1.00[ASN][1000 genomes]
rs10171853	1.00[ASN][1000 genomes]
rs10174832	1.00[ASN][1000 genomes]
rs10177789	1.00[ASN][1000 genomes]
rs10177905	1.00[ASN][1000 genomes]
rs10186611	1.00[ASN][1000 genomes]
rs12464180	1.00[ASN][1000 genomes]
rs12466249	1.00[ASN][1000 genomes]
rs12475211	1.00[ASN][1000 genomes]
rs13382481	1.00[ASN][1000 genomes]
rs13382546	1.00[ASN][1000 genomes]
rs13385947	1.00[ASN][1000 genomes]
rs13394344	1.00[ASN][1000 genomes]
rs13398577	1.00[ASN][1000 genomes]
rs13398883	1.00[ASN][1000 genomes]
rs13411242	1.00[ASN][1000 genomes]
rs13419229	1.00[ASN][1000 genomes]
rs13426552	1.00[ASN][1000 genomes]
rs13429524	1.00[ASN][1000 genomes]
rs56808546	1.00[ASN][1000 genomes]
rs9309000	1.00[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:120 , 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	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
7	chr2:37238400-37260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:37240200-37260800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:37240800-37281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:37241000-37272600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:37241400-37299600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr2:37242000-37287000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:37242200-37265800	Strong transcription	Liver	Liver
19	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:37245000-37261400	Strong transcription	Primary hematopoietic stem cells	blood
21	chr2:37245400-37260000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:37246200-37283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:37246800-37279800	Weak transcription	Pancreas	Pancrea
24	chr2:37247000-37279200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:37248600-37263200	Weak transcription	Hela-S3	cervix
26	chr2:37248600-37263200	Weak transcription	HUVEC	blood vessel
27	chr2:37248800-37263800	Strong transcription	Adipose Nuclei	Adipose
28	chr2:37248800-37266800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:37248800-37279200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:37248800-37290200	Weak transcription	Psoas Muscle	Psoas
31	chr2:37249000-37257600	Weak transcription	NHDF-Ad	bronchial
32	chr2:37249000-37266600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:37249000-37277400	Weak transcription	NHLF	lung
34	chr2:37249000-37291800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:37249000-37291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:37250600-37261200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:37250800-37268600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:37251200-37260200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:37251400-37259000	Weak transcription	Brain Substantia Nigra	brain
40	chr2:37251600-37258000	Weak transcription	Brain Anterior Caudate	brain
41	chr2:37251800-37261000	Strong transcription	Fetal Intestine Large	intestine
42	chr2:37252000-37258400	Strong transcription	Fetal Muscle Leg	muscle
43	chr2:37252000-37279400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:37253400-37259200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:37253400-37279400	Weak transcription	NHEK	skin
46	chr2:37253600-37278800	Weak transcription	Right Ventricle	heart
47	chr2:37253800-37264800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:37253800-37265000	Weak transcription	Thymus	Thymus
49	chr2:37253800-37268600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:37253800-37289600	Weak transcription	Spleen	Spleen

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