Variant report

Variant	rs2627814
Chromosome Location	chr4:143252583-143252584
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	chr4:143248197..143251091-chr4:143251124..143253025,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2627802	0.93[EUR][1000 genomes]
rs2635425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2635426	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2635427	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2635428	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636671	0.85[EUR][1000 genomes]
rs2646088	0.83[EUR][1000 genomes]
rs2646096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844681	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs960679	0.81[AMR][1000 genomes];0.85[EUR][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:53 , 50 per page) page: 1 2

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	chr4:143236200-143257000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:143236200-143257200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:143236200-143257600	Weak transcription	HMEC	breast
8	chr4:143240400-143257000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:143244400-143253800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:143244400-143256800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:143244600-143256800	Weak transcription	Dnd41	blood
12	chr4:143245600-143253000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:143245600-143253600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:143245600-143257600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:143245800-143257200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:143246000-143257000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:143246600-143267800	Weak transcription	Primary T cells from cord blood	blood
18	chr4:143246800-143257200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:143248400-143253800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:143249600-143253200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:143250000-143253600	Enhancers	Fetal Lung	lung
22	chr4:143250400-143253200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:143250600-143253800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:143250600-143254200	Weak transcription	Psoas Muscle	Psoas
25	chr4:143250800-143256800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:143251200-143253200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr4:143251200-143255600	Enhancers	Fetal Heart	heart
28	chr4:143251400-143252600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:143251400-143253600	Enhancers	HSMMtube	muscle
30	chr4:143251400-143253800	Enhancers	NHLF	lung
31	chr4:143251600-143252600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:143251600-143253000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:143251600-143253200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:143251600-143253200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr4:143251600-143253800	Enhancers	NHDF-Ad	bronchial
36	chr4:143251800-143252800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:143251800-143253000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:143252000-143252600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr4:143252000-143252800	Enhancers	HSMM	muscle
40	chr4:143252000-143253200	Enhancers	Colon Smooth Muscle	Colon
41	chr4:143252200-143252600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr4:143252200-143252600	Enhancers	Duodenum Mucosa	Duodenum
43	chr4:143252200-143252600	Enhancers	Right Atrium	heart
44	chr4:143252200-143252800	Flanking Active TSS	Osteobl	bone
45	chr4:143252200-143253000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:143252400-143252600	Enhancers	Ovary	ovary
47	chr4:143252400-143252600	Enhancers	Right Ventricle	heart
48	chr4:143252400-143252600	Enhancers	Small Intestine	intestine
49	chr4:143252400-143252800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:143252400-143252800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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