Variant report

Variant	rs6867514
Chromosome Location	chr5:52220585-52220586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52213747..52215537-chr5:52218386..52220869,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10039713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10040519	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10043218	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10044595	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10054155	0.84[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10059882	1.00[AMR][1000 genomes]
rs10076207	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs11948400	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28691604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6889474	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52188800-52228200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:52202200-52252200	Weak transcription	Small Intestine	intestine
3	chr5:52206400-52240800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:52211400-52221200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:52211400-52239400	Weak transcription	Right Ventricle	heart
6	chr5:52211400-52240200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:52211600-52244400	Weak transcription	HepG2	liver
8	chr5:52212200-52237400	Strong transcription	Liver	Liver
9	chr5:52212800-52225400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:52213600-52221400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:52215200-52222800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:52215200-52228200	Weak transcription	Placenta	Placenta
13	chr5:52216000-52226600	Weak transcription	Fetal Brain Male	brain
14	chr5:52218400-52221200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:52218400-52221200	Strong transcription	Colon Smooth Muscle	Colon
16	chr5:52218400-52224800	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:52218400-52226600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:52218400-52229200	Weak transcription	Pancreas	Pancrea
19	chr5:52218600-52221200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr5:52218600-52225000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:52218600-52237000	Weak transcription	Psoas Muscle	Psoas
22	chr5:52218600-52239400	Weak transcription	Ovary	ovary
23	chr5:52218600-52242200	Weak transcription	Fetal Kidney	kidney
24	chr5:52218800-52240800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:52219000-52220600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:52219000-52230400	Weak transcription	HSMMtube	muscle
27	chr5:52219200-52221200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:52219200-52222800	Weak transcription	Hela-S3	cervix
29	chr5:52219200-52223000	Weak transcription	Fetal Lung	lung
30	chr5:52219200-52235200	Weak transcription	NHDF-Ad	bronchial
31	chr5:52219200-52240800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:52219200-52240800	Weak transcription	NHLF	lung
33	chr5:52219400-52220600	Strong transcription	Aorta	Aorta
34	chr5:52219400-52221200	Genic enhancers	Dnd41	blood
35	chr5:52219600-52220600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:52219600-52220800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:52219800-52220600	Genic enhancers	Spleen	Spleen
38	chr5:52219800-52223000	Weak transcription	Primary T cells from cord blood	blood
39	chr5:52220000-52220600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:52220000-52220600	Strong transcription	Lung	lung
41	chr5:52220000-52243000	Weak transcription	Gastric	stomach
42	chr5:52220200-52220600	Strong transcription	Fetal Intestine Small	intestine
43	chr5:52220200-52220600	Genic enhancers	Stomach Smooth Muscle	stomach
44	chr5:52220200-52220800	Genic enhancers	Fetal Stomach	stomach
45	chr5:52220200-52222600	Weak transcription	Adipose Nuclei	Adipose
46	chr5:52220200-52223000	Weak transcription	Left Ventricle	heart
47	chr5:52220400-52220600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
48	chr5:52220400-52220600	Enhancers	GM12878-XiMat	blood
49	chr5:52220400-52223600	Weak transcription	Fetal Intestine Large	intestine
50	chr5:52220400-52239400	Weak transcription	Fetal Muscle Leg	muscle

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