Variant report

Variant	rs724131
Chromosome Location	chr4:143266758-143266759
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	chr4:143266134..143268951-chr4:143395227..143397611,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1158692	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158693	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511267	0.81[AMR][1000 genomes]
rs13128245	0.81[AMR][1000 genomes]
rs13138212	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs13144939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391098	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1489577	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs1489578	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs1497389	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1497397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497398	0.96[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565306	0.83[AMR][1000 genomes]
rs1812174	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1814133	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982966	0.85[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap]
rs2029991	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173209	0.80[AMR][1000 genomes]
rs2255497	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627806	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2627837	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2635421	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2635422	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2635424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646085	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2646086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2646087	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2646089	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2646090	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2646091	0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs3775705	0.82[CEU][hapmap]
rs3822157	0.82[CEU][hapmap]
rs716762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724560	0.80[AMR][1000 genomes]
rs7699598	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs881611	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs882004	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882005	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931419	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs980808	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143234800-143271800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:143246600-143267800	Weak transcription	Primary T cells from cord blood	blood
3	chr4:143256200-143269200	Weak transcription	HSMMtube	muscle
4	chr4:143256800-143269800	Weak transcription	NHDF-Ad	bronchial
5	chr4:143257600-143272000	Weak transcription	Right Ventricle	heart
6	chr4:143258000-143267000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:143258000-143267000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:143258000-143269200	Weak transcription	Left Ventricle	heart
9	chr4:143258000-143274800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:143258200-143274000	Weak transcription	Dnd41	blood
11	chr4:143260200-143267000	Weak transcription	Small Intestine	intestine
12	chr4:143260200-143269200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:143260200-143272000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:143262000-143269200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:143262000-143269200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:143262800-143267000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:143262800-143271600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:143263000-143271600	Weak transcription	HSMM	muscle
19	chr4:143263200-143266800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:143263200-143267000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:143263200-143267000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr4:143263200-143267000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:143263200-143267400	Weak transcription	Fetal Intestine Small	intestine
24	chr4:143264000-143275400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr4:143264200-143267000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr4:143264400-143268000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:143264600-143274400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:143265400-143268000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr4:143265600-143268000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr4:143265800-143267400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:143265800-143270200	Enhancers	HMEC	breast
32	chr4:143265800-143280600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:143266400-143266800	Genic enhancers	NHEK	skin
34	chr4:143266400-143269000	Enhancers	Fetal Heart	heart
35	chr4:143266600-143267400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:143266600-143267800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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