Variant report

Variant	rs12476515
Chromosome Location	chr2:37102620-37102621
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	chr2:37101432..37103496-chr2:37106203..37107910,2	K562	blood:
2	chr2:37102067..37105059-chr2:37110141..37111787,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10193295	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10490657	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11124555	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs13418962	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17020071	1.00[JPT][hapmap]
rs17443495	1.00[JPT][hapmap]
rs17496249	0.83[EUR][1000 genomes]
rs2003585	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2110942	0.85[EUR][1000 genomes]
rs2110944	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245109	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2252032	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2372786	0.80[EUR][1000 genomes]
rs2540926	0.87[ASN][1000 genomes]
rs2691106	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2691112	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2717493	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28527412	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3770774	0.92[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap]
rs3770781	0.82[CEU][hapmap]
rs3845778	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3845780	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs4016033	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4389320	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs45504994	0.82[ASN][1000 genomes]
rs4670638	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs57747847	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6752845	0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs7561572	0.81[ASN][1000 genomes]
rs7573966	0.88[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7588378	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs888083	0.81[CEU][hapmap];1.00[JPT][hapmap]

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	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
2	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
4	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
5	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:37075800-37106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:37076800-37111600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:37077000-37116200	Weak transcription	Hela-S3	cervix
9	chr2:37077000-37116200	Weak transcription	NHLF	lung
10	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
13	chr2:37079200-37111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:37080600-37105800	Strong transcription	Primary B cells from cord blood	blood
15	chr2:37082200-37115600	Weak transcription	Stomach Mucosa	stomach
16	chr2:37083800-37108000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:37084200-37103200	Weak transcription	HSMMtube	muscle
18	chr2:37086400-37103600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:37090600-37105600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:37090800-37105200	Strong transcription	Adipose Nuclei	Adipose
22	chr2:37090800-37114200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:37091000-37105800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:37091000-37114000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:37091200-37114400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:37091400-37105800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:37092800-37115600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:37093200-37105800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:37094200-37103600	Weak transcription	HMEC	breast
30	chr2:37094200-37113400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:37094400-37103200	Weak transcription	Fetal Lung	lung
32	chr2:37094400-37110400	Weak transcription	NH-A	brain
33	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:37094600-37103200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:37094600-37104800	Weak transcription	NHEK	skin
36	chr2:37095800-37103200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:37095800-37112600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:37096000-37111200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:37096400-37106000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:37096400-37110800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:37096400-37117000	Weak transcription	K562	blood
42	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
43	chr2:37096800-37103000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:37097000-37103200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:37098000-37112400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:37098400-37103800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:37098400-37105200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:37098400-37105400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:37098400-37107400	Strong transcription	Fetal Muscle Trunk	muscle

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