Variant report

Variant	rs2646091
Chromosome Location	chr4:143257940-143257941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1158692	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1158693	0.91[ASN][1000 genomes]
rs13138212	0.90[JPT][hapmap]
rs13144939	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs1391098	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1489578	1.00[YRI][hapmap]
rs1497389	0.90[JPT][hapmap]
rs1497397	0.90[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs1497398	0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs17715707	1.00[YRI][hapmap]
rs1812174	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1814133	0.91[ASN][1000 genomes]
rs1982966	0.90[JPT][hapmap]
rs2029991	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2255497	0.91[ASN][1000 genomes]
rs2627806	0.83[AMR][1000 genomes]
rs2627837	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2635421	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2635422	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2635424	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2635429	1.00[YRI][hapmap]
rs2646085	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2646086	0.91[ASN][1000 genomes]
rs2646087	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2646089	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2646090	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3775716	1.00[YRI][hapmap]
rs6820232	1.00[YRI][hapmap]
rs716762	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs724131	0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs882004	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs882005	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs931419	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs980808	0.91[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	chr4:143234800-143271800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:143235600-143266400	Weak transcription	NHEK	skin
4	chr4:143246600-143267800	Weak transcription	Primary T cells from cord blood	blood
5	chr4:143253000-143260200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr4:143253600-143262600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:143255600-143260000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:143255600-143265800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:143256000-143259400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr4:143256200-143258600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr4:143256200-143269200	Weak transcription	HSMMtube	muscle
12	chr4:143256800-143258000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:143256800-143258200	ZNF genes & repeats	Dnd41	blood
14	chr4:143256800-143260000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:143256800-143269800	Weak transcription	NHDF-Ad	bronchial
16	chr4:143257000-143258000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:143257000-143258000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr4:143257000-143258000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr4:143257000-143258000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr4:143257000-143258000	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr4:143257200-143258000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:143257200-143258000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:143257200-143258000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:143257200-143258000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:143257200-143258000	ZNF genes & repeats	Left Ventricle	heart
26	chr4:143257200-143260000	Weak transcription	Gastric	stomach
27	chr4:143257200-143262800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:143257400-143258000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:143257400-143258000	ZNF genes & repeats	Pancreas	Pancrea
30	chr4:143257400-143259600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:143257400-143259800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:143257600-143258000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:143257600-143258000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:143257600-143258000	ZNF genes & repeats	HMEC	breast
35	chr4:143257600-143260000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:143257600-143272000	Weak transcription	Right Ventricle	heart
37	chr4:143257800-143258000	Enhancers	Fetal Muscle Trunk	muscle
38	chr4:143257800-143258200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:143257800-143258600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:143257800-143262600	Weak transcription	HSMM	muscle

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