Variant report

Variant	rs2636643
Chromosome Location	chr4:143181066-143181067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10029437	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1219266	1.00[CEU][hapmap];0.84[TSI][hapmap]
rs1219268	1.00[CEU][hapmap]
rs1219269	1.00[CEU][hapmap];0.84[TSI][hapmap]
rs1219270	1.00[CEU][hapmap];0.84[TSI][hapmap]
rs1390994	1.00[CEU][hapmap]
rs1497139	1.00[CEU][hapmap]
rs1532450	1.00[CEU][hapmap]
rs1907109	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907113	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907117	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1907119	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1907135	1.00[CEU][hapmap]
rs1907137	0.88[CEU][hapmap]
rs1948323	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2130685	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2172023	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627812	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627816	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2627817	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627834	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627835	0.88[CEU][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2627836	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636629	0.80[AFR][1000 genomes]
rs2636632	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636635	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2636637	0.81[CEU][hapmap]
rs2636641	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636647	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636652	0.89[MKK][hapmap];0.80[AMR][1000 genomes]
rs2636655	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636657	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636660	0.84[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.97[MKK][hapmap];0.80[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs2636685	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102436	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102437	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102438	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102439	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102443	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102444	0.96[EUR][1000 genomes]
rs3102446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113511	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113513	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3113515	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3113522	0.88[CEU][hapmap]
rs336384	1.00[CEU][hapmap];0.84[TSI][hapmap]
rs336394	0.81[CEU][hapmap]
rs336400	0.83[CEU][hapmap]
rs336402	0.81[CEU][hapmap]
rs336405	0.83[CEU][hapmap]
rs336406	0.81[CEU][hapmap]
rs34648309	0.82[EUR][1000 genomes]
rs992257	0.81[TSI][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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143135400-143184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:143151000-143185000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr4:143160600-143185000	Weak transcription	HMEC	breast
4	chr4:143160600-143186400	Weak transcription	HSMM	muscle
5	chr4:143164600-143186000	Weak transcription	HSMMtube	muscle
6	chr4:143171000-143185600	Weak transcription	NHDF-Ad	bronchial
7	chr4:143171000-143185800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:143171000-143186200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:143171200-143182000	Weak transcription	A549	lung
10	chr4:143171600-143182600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:143173200-143184200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:143174400-143183400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:143174400-143183400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:143174400-143185000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:143174600-143182600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:143174600-143186000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:143174600-143190200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:143179200-143186000	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:143179400-143182600	Weak transcription	Fetal Intestine Small	intestine
20	chr4:143179400-143186000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:143179600-143186000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:143179800-143191000	Weak transcription	Colonic Mucosa	Colon
23	chr4:143180000-143182400	Weak transcription	Fetal Intestine Large	intestine
24	chr4:143180000-143182800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:143180200-143185000	Weak transcription	Psoas Muscle	Psoas
26	chr4:143180400-143181600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:143180800-143181200	Weak transcription	Right Ventricle	heart
28	chr4:143180800-143181600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:143180800-143181800	Strong transcription	Primary T cells from cord blood	blood
30	chr4:143181000-143181200	ZNF genes & repeats	NHEK	skin
31	chr4:143181000-143181400	ZNF genes & repeats	Left Ventricle	heart
32	chr4:143181000-143181600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr4:143181000-143181600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr4:143181000-143181600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:143181000-143181600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:143181000-143181800	Strong transcription	Dnd41	blood
37	chr4:143181000-143182000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:143181000-143182400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:143181000-143182400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:143181000-143182600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:143181000-143182600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:143181000-143182800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:143181000-143183000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:143181000-143183800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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