Variant report

Variant	rs2646089
Chromosome Location	chr4:143258752-143258753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1158692	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1158693	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13144939	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1391098	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1497397	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1497398	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1812174	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1814133	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2029991	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2255497	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2627806	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2627837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2635421	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2635422	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2635424	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2646085	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2646086	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2646087	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2646090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2646091	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs716762	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs724131	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs882004	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs882005	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs931419	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs980808	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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	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
5	esv3338652	chr4:143258502-143259600	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 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	chr4:143256200-143269200	Weak transcription	HSMMtube	muscle
11	chr4:143256800-143260000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:143256800-143269800	Weak transcription	NHDF-Ad	bronchial
13	chr4:143257200-143260000	Weak transcription	Gastric	stomach
14	chr4:143257200-143262800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:143257400-143259600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:143257400-143259800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:143257600-143260000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:143257600-143272000	Weak transcription	Right Ventricle	heart
19	chr4:143257800-143262600	Weak transcription	HSMM	muscle
20	chr4:143258000-143259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:143258000-143260000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:143258000-143261600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr4:143258000-143261600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:143258000-143262200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:143258000-143262400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:143258000-143262800	Weak transcription	Fetal Intestine Small	intestine
27	chr4:143258000-143263000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:143258000-143263000	Weak transcription	Pancreas	Pancrea
29	chr4:143258000-143265800	Weak transcription	HMEC	breast
30	chr4:143258000-143267000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:143258000-143267000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:143258000-143269200	Weak transcription	Left Ventricle	heart
33	chr4:143258000-143274800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:143258200-143259800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:143258200-143274000	Weak transcription	Dnd41	blood
36	chr4:143258600-143260200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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