Variant report

Variant	rs2636686
Chromosome Location	chr4:143191157-143191158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1219266	0.85[CHD][hapmap]
rs1219269	0.85[CHD][hapmap]
rs1219270	0.84[CHD][hapmap]
rs13109869	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs13120882	0.88[JPT][hapmap]
rs1343812	0.88[JPT][hapmap]
rs173045	0.90[CEU][hapmap];0.82[AMR][1000 genomes]
rs1907120	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1907134	0.86[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1907137	0.82[JPT][hapmap]
rs1907141	0.91[AMR][1000 genomes]
rs1994216	0.80[AMR][1000 genomes]
rs1994217	0.90[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes]
rs2130684	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2172024	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2245600	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2247587	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247659	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2322703	0.86[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2627798	0.90[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2627804	0.84[CHB][hapmap];0.97[CHD][hapmap]
rs2627813	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2627823	0.80[AMR][1000 genomes]
rs2627832	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2627833	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2636633	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2636636	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2636645	0.85[CEU][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2636675	0.84[EUR][1000 genomes]
rs2636682	0.95[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes]
rs2636683	0.85[CEU][hapmap];0.86[CHD][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap]
rs2645815	0.84[CEU][hapmap]
rs3102440	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3102447	0.84[AMR][1000 genomes]
rs3113522	0.80[JPT][hapmap]
rs336384	0.81[CHD][hapmap]
rs336391	0.83[TSI][hapmap]
rs992257	0.81[CHD][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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2636686	WDR60	trans	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143181400-143191400	Weak transcription	Left Ventricle	heart
2	chr4:143181600-143195600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:143183000-143204800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:143185400-143192400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:143185400-143199000	Weak transcription	Psoas Muscle	Psoas
6	chr4:143186400-143191200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:143186600-143191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:143186600-143199800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:143187400-143191200	Weak transcription	Dnd41	blood
10	chr4:143187400-143193000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:143187400-143193600	Weak transcription	Small Intestine	intestine
12	chr4:143187400-143197200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:143187400-143199400	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:143187400-143199400	Weak transcription	NH-A	brain
15	chr4:143187400-143200400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:143187400-143203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:143187400-143218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:143187600-143192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:143187600-143194600	Weak transcription	NHLF	lung
20	chr4:143187600-143196000	Weak transcription	A549	lung
21	chr4:143187600-143200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:143187800-143194000	Weak transcription	NHEK	skin
23	chr4:143188800-143191200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:143188800-143191400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:143188800-143194000	Weak transcription	NHDF-Ad	bronchial
26	chr4:143189000-143193000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:143189600-143191200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:143189600-143192200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr4:143189600-143192200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:143189600-143192800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr4:143189800-143191800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:143189800-143191800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:143190000-143191200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:143190000-143191400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:143190000-143191800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr4:143190000-143191800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:143190000-143192000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:143190000-143192000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:143190000-143192000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:143190000-143192800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:143190200-143191400	Strong transcription	HSMMtube	muscle
42	chr4:143190200-143191600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:143190200-143191600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:143190200-143191600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:143190200-143191800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:143190200-143192200	Strong transcription	Primary T cells from cord blood	blood
47	chr4:143190200-143192800	Strong transcription	HMEC	breast
48	chr4:143190400-143191600	Strong transcription	HSMM	muscle
49	chr4:143190400-143191800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:143190400-143192600	Weak transcription	Rectal Mucosa Donor 29	rectum

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