Variant report

Variant	rs575959520
Chromosome Location	chr5:52240720-52240721
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	chr5:52239227..52240957-chr5:52240958..52243466,2	MCF-7	breast:
2	chr5:52082533..52083427-chr5:52240291..52241141,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv1794366	chr5:52240421-52249476	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52202200-52252200	Weak transcription	Small Intestine	intestine
2	chr5:52206400-52240800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:52211600-52244400	Weak transcription	HepG2	liver
4	chr5:52218600-52242200	Weak transcription	Fetal Kidney	kidney
5	chr5:52218800-52240800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:52219200-52240800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:52219200-52240800	Weak transcription	NHLF	lung
8	chr5:52220000-52243000	Weak transcription	Gastric	stomach
9	chr5:52220600-52252000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:52221400-52251800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:52224200-52244600	Weak transcription	Primary T cells from cord blood	blood
12	chr5:52227000-52240800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:52228400-52240800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:52229000-52246600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:52231600-52245400	Weak transcription	Colonic Mucosa	Colon
16	chr5:52232800-52249800	Weak transcription	Left Ventricle	heart
17	chr5:52235000-52240800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:52235400-52243200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:52236000-52240800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:52237000-52240800	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:52237400-52240800	Weak transcription	Adipose Nuclei	Adipose
22	chr5:52238800-52252200	Strong transcription	Liver	Liver
23	chr5:52239600-52240800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:52239800-52240800	Weak transcription	Right Atrium	heart
25	chr5:52240000-52240800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:52240000-52240800	Enhancers	Dnd41	blood
27	chr5:52240000-52245400	Weak transcription	Placenta	Placenta
28	chr5:52240000-52249800	Weak transcription	Aorta	Aorta
29	chr5:52240000-52253000	Weak transcription	Right Ventricle	heart
30	chr5:52240000-52253400	Weak transcription	Esophagus	oesophagus
31	chr5:52240000-52253600	Weak transcription	Lung	lung
32	chr5:52240200-52241200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:52240200-52244200	Weak transcription	Fetal Lung	lung
34	chr5:52240200-52244200	Weak transcription	Fetal Stomach	stomach
35	chr5:52240200-52247000	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:52240200-52251800	Weak transcription	Fetal Intestine Small	intestine
37	chr5:52240200-52253400	Weak transcription	Spleen	Spleen
38	chr5:52240400-52240800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:52240400-52240800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr5:52240400-52240800	Enhancers	Osteobl	bone
41	chr5:52240400-52241200	Active TSS	Stomach Smooth Muscle	stomach
42	chr5:52240400-52251800	Weak transcription	Fetal Intestine Large	intestine
43	chr5:52240600-52240800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:52240600-52240800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr5:52240600-52240800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:52240600-52240800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr5:52240600-52240800	Enhancers	HUVEC	blood vessel
48	chr5:52240600-52241400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:52240600-52241400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr5:52240600-52241400	Active TSS	NHDF-Ad	bronchial

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