Variant report

Variant	rs2636633
Chromosome Location	chr4:143214406-143214407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1907120	0.87[AMR][1000 genomes]
rs1907134	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1907141	0.87[AMR][1000 genomes]
rs1994217	0.87[AMR][1000 genomes]
rs2130684	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2172024	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245600	0.81[EUR][1000 genomes]
rs2247587	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247659	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2322703	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2627798	0.85[AMR][1000 genomes]
rs2627813	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627832	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2627833	0.91[AMR][1000 genomes]
rs2636645	0.81[AMR][1000 genomes]
rs2636675	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2636682	0.85[AMR][1000 genomes]
rs2636686	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3102440	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[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	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143187400-143218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:143192000-143219400	Weak transcription	Dnd41	blood
3	chr4:143196000-143225200	Weak transcription	NHDF-Ad	bronchial
4	chr4:143199400-143230800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:143200000-143215000	Weak transcription	HSMMtube	muscle
6	chr4:143200000-143240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:143204000-143230600	Weak transcription	Left Ventricle	heart
8	chr4:143204200-143229000	Weak transcription	NHEK	skin
9	chr4:143204600-143233600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:143206000-143233400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:143206800-143215600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:143206800-143216200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:143207000-143223200	Weak transcription	Aorta	Aorta
14	chr4:143207400-143214800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:143208800-143220400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:143209200-143226400	Weak transcription	Fetal Heart	heart
17	chr4:143209800-143229000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:143210000-143214600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:143210400-143214800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:143210800-143216200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:143210800-143235400	Weak transcription	Right Ventricle	heart
22	chr4:143211000-143220000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:143211200-143215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:143211600-143224600	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:143212000-143216400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:143212800-143215400	Weak transcription	Primary T cells from cord blood	blood
27	chr4:143212800-143215400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:143212800-143215600	Weak transcription	HMEC	breast
29	chr4:143212800-143218000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:143213000-143214800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr4:143213400-143214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:143213400-143215000	Enhancers	Fetal Lung	lung
33	chr4:143213400-143215600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:143213800-143215000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:143213800-143215400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:143214000-143215400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:143214000-143217000	Weak transcription	HSMM	muscle
38	chr4:143214200-143220000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:143214200-143230600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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