Variant report

Variant	rs2717493
Chromosome Location	chr2:37122552-37122553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10193295	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10490657	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11124554	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11124555	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11695609	0.81[EUR][1000 genomes]
rs12476515	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13418962	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17020071	0.95[JPT][hapmap]
rs17443495	0.85[CEU][hapmap];0.95[JPT][hapmap]
rs2003585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2110944	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2110994	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2245109	0.92[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs2252032	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2372786	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2691106	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691112	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28527412	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3770774	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3770781	0.81[CEU][hapmap]
rs3845778	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3845780	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4016033	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4016036	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4389320	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs45504994	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4670638	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs57747847	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62132550	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7561572	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7573966	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7588378	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7592902	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7605601	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs888083	0.88[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
8	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:37099200-37140200	Weak transcription	Colonic Mucosa	Colon
10	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:37105000-37164600	Weak transcription	Lung	lung
13	chr2:37105200-37125400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:37105200-37136200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:37105200-37139200	Weak transcription	Aorta	Aorta
16	chr2:37105200-37141200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
19	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
20	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
21	chr2:37105800-37146400	Weak transcription	Right Ventricle	heart
22	chr2:37110000-37135800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:37110800-37142800	Weak transcription	Gastric	stomach
24	chr2:37111200-37140600	Weak transcription	Fetal Brain Female	brain
25	chr2:37111600-37139200	Weak transcription	Ovary	ovary
26	chr2:37111800-37138200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:37112000-37138400	Weak transcription	Brain Germinal Matrix	brain
28	chr2:37112400-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:37113200-37125400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:37113400-37125600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:37113600-37125600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:37113600-37130200	Weak transcription	Fetal Heart	heart
33	chr2:37114000-37145800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:37115000-37122600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:37116200-37131400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:37117000-37122800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:37117000-37123800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:37117400-37122600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:37117400-37128800	Weak transcription	Brain Angular Gyrus	brain
40	chr2:37117400-37139400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:37117400-37144400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:37117600-37123000	Weak transcription	HSMMtube	muscle
43	chr2:37117600-37128200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:37117600-37128600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:37117600-37131000	Weak transcription	NH-A	brain
46	chr2:37117600-37139800	Weak transcription	HSMM	muscle
47	chr2:37117600-37153600	Weak transcription	Hela-S3	cervix
48	chr2:37118000-37122600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:37118000-37139200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:37118000-37139600	Weak transcription	Muscle Satellite Cultured Cells	--

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