Variant report

Variant	rs7588378
Chromosome Location	chr2:37141495-37141496
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	chr2:37138982..37142311-chr2:37143440..37145643,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10193295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10490657	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11124554	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11124555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11679564	0.81[ASN][1000 genomes]
rs11695609	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12476515	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13418962	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17020071	1.00[JPT][hapmap]
rs17443495	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs17497343	0.81[ASN][1000 genomes]
rs2003585	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2110994	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245109	0.89[CEU][hapmap]
rs2252032	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2372786	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2540998	0.84[CHB][hapmap]
rs2691106	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2691112	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2717493	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]
rs28527412	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770774	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3770781	0.82[CEU][hapmap]
rs3845778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3845780	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4016033	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4016036	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4389320	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs45504994	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4670638	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs57747847	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62132550	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6752845	0.83[JPT][hapmap]
rs7561572	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573966	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7592902	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7605601	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs888083	0.89[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:105 , 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	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
6	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:37105000-37164600	Weak transcription	Lung	lung
10	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
12	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
13	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
14	chr2:37105800-37146400	Weak transcription	Right Ventricle	heart
15	chr2:37110800-37142800	Weak transcription	Gastric	stomach
16	chr2:37112400-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:37114000-37145800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:37117400-37144400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:37117600-37153600	Weak transcription	Hela-S3	cervix
20	chr2:37119800-37142200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:37120000-37153800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:37120200-37142600	Weak transcription	K562	blood
23	chr2:37120200-37149200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:37120600-37168000	Weak transcription	Thymus	Thymus
25	chr2:37120800-37166400	Weak transcription	Placenta	Placenta
26	chr2:37121000-37145200	Weak transcription	Fetal Lung	lung
27	chr2:37121200-37142800	Weak transcription	Liver	Liver
28	chr2:37121200-37145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:37121200-37148600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:37121200-37153600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:37121400-37142600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:37121600-37146400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:37121800-37145800	Weak transcription	A549	lung
34	chr2:37122800-37143200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:37126200-37153600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:37127800-37157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:37130600-37143400	Weak transcription	Brain Anterior Caudate	brain
38	chr2:37131600-37153200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:37131800-37153600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:37132000-37145800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:37132200-37142800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:37132200-37153600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:37132400-37192400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:37134000-37143000	Weak transcription	Fetal Intestine Small	intestine
45	chr2:37134600-37192400	Weak transcription	Fetal Stomach	stomach
46	chr2:37136400-37178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:37137800-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:37138000-37143000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:37138200-37144200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr2:37138400-37143600	Weak transcription	HSMMtube	muscle

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