Variant report

Variant	rs2636637
Chromosome Location	chr4:143081071-143081072
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	chr4:143075946..143078938-chr4:143080859..143082730,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1219266	0.81[CEU][hapmap];0.81[JPT][hapmap];0.81[MKK][hapmap];0.89[TSI][hapmap]
rs1219268	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs1219269	0.81[CEU][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap]
rs1219270	0.81[CEU][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes]
rs1219275	0.94[ASW][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.87[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1390994	0.81[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs1497139	0.87[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs1532450	0.80[CEU][hapmap]
rs182862	0.83[AMR][1000 genomes]
rs1907113	0.81[CEU][hapmap]
rs1907119	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs1907135	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs1948323	0.81[CEU][hapmap]
rs2130685	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs2172023	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs2627817	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs2636632	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs2636643	0.81[CEU][hapmap]
rs2636656	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs2636660	0.81[CEU][hapmap]
rs3102438	0.81[CEU][hapmap]
rs3102439	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs3113511	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs336384	0.81[CEU][hapmap];0.81[JPT][hapmap];0.81[MKK][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes]
rs336393	0.94[CEU][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs336394	1.00[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs336396	0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336397	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336404	0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336408	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143018800-143109600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:143043400-143089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:143049800-143114400	Weak transcription	Right Ventricle	heart
4	chr4:143051400-143093400	Weak transcription	Left Ventricle	heart
5	chr4:143052400-143081400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:143052400-143111600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:143052600-143081400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:143052600-143094600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:143057800-143114400	Weak transcription	Aorta	Aorta
10	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:143061800-143102200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:143062200-143081200	Weak transcription	NHEK	skin
13	chr4:143064200-143093200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:143069800-143112200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:143070400-143134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:143071000-143117800	Weak transcription	Psoas Muscle	Psoas
17	chr4:143072000-143137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:143073000-143087400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:143075200-143085600	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:143076800-143083800	Weak transcription	NH-A	brain
21	chr4:143076800-143107200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:143076800-143113200	Weak transcription	Pancreas	Pancrea
23	chr4:143077600-143084800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:143077800-143084000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:143078200-143103400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:143078400-143083200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr4:143078400-143085000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:143078600-143081800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr4:143078600-143085000	Strong transcription	Primary T cells from cord blood	blood
30	chr4:143078600-143085800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:143078800-143082600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:143078800-143083000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:143078800-143083200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:143079000-143083200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:143079000-143085200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:143079200-143082800	Strong transcription	HMEC	breast
37	chr4:143079200-143093000	Weak transcription	Osteobl	bone
38	chr4:143079400-143082000	Strong transcription	HSMM	muscle
39	chr4:143079600-143081200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:143079600-143081400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:143079600-143082000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr4:143079600-143084400	Weak transcription	Esophagus	oesophagus
43	chr4:143079600-143093600	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:143079800-143083000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:143080000-143081600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr4:143080000-143082400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:143080200-143082000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:143080200-143082400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr4:143080400-143081800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr4:143080400-143083200	Strong transcription	HSMMtube	muscle

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