Variant report

Variant	rs6827918
Chromosome Location	chr4:143257116-143257117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10009855	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10017642	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10018876	0.81[EUR][1000 genomes]
rs11723890	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11726659	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12499068	0.81[GIH][hapmap]
rs12641576	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1353624	0.90[CEU][hapmap];0.87[CHB][hapmap];0.91[GIH][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1391093	0.90[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1391094	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1497393	0.86[GIH][hapmap]
rs1497400	0.83[CHB][hapmap]
rs17016001	0.90[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1908968	0.90[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2200841	0.86[GIH][hapmap]
rs2636669	0.90[CEU][hapmap];0.86[CHB][hapmap];0.80[CHD][hapmap];0.80[EUR][1000 genomes]
rs28546779	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28664218	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28844598	0.81[EUR][1000 genomes]
rs4479787	0.90[CEU][hapmap];0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4496653	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67102237	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6828156	0.85[CEU][hapmap]
rs7666932	0.86[GIH][hapmap]
rs9308150	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143217600-143260800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:143233800-143257200	Weak transcription	Left Ventricle	heart
3	chr4:143234800-143271800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:143235600-143266400	Weak transcription	NHEK	skin
5	chr4:143236200-143257200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:143236200-143257600	Weak transcription	HMEC	breast
7	chr4:143245600-143257600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:143245800-143257200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:143246600-143267800	Weak transcription	Primary T cells from cord blood	blood
10	chr4:143246800-143257200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:143252600-143257200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:143252600-143257400	Weak transcription	Right Ventricle	heart
13	chr4:143253000-143260200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:143253400-143257400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:143253600-143262600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:143254000-143257800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:143255600-143260000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:143255600-143265800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:143256000-143259400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:143256200-143258600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr4:143256200-143269200	Weak transcription	HSMMtube	muscle
22	chr4:143256400-143257600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:143256600-143257800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:143256800-143257200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr4:143256800-143257800	ZNF genes & repeats	HSMM	muscle
26	chr4:143256800-143258000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:143256800-143258200	ZNF genes & repeats	Dnd41	blood
28	chr4:143256800-143260000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:143256800-143269800	Weak transcription	NHDF-Ad	bronchial
30	chr4:143257000-143257200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:143257000-143257200	Enhancers	Gastric	stomach
32	chr4:143257000-143257200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:143257000-143257400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:143257000-143257600	ZNF genes & repeats	Fetal Lung	lung
35	chr4:143257000-143257800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:143257000-143258000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:143257000-143258000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr4:143257000-143258000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr4:143257000-143258000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr4:143257000-143258000	ZNF genes & repeats	Fetal Intestine Small	intestine

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