Variant report

Variant	rs145479115
Chromosome Location	chr5:95261967-95261968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95257637..95262263-chr5:95295485..95300660,6	K562	blood:
2	chr5:95228710..95230436-chr5:95260445..95262150,2	K562	blood:
3	chr5:95261849..95263612-chr5:95264702..95267235,2	MCF-7	breast:
4	chr5:95228710..95230634-chr5:95260424..95262150,2	K562	blood:
5	chr5:95232218..95234348-chr5:95259684..95262327,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251314	Chromatin interaction
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised 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	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	esv3371299	chr5:95261096-95265494	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3329367	chr5:95261896-95264644	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95226400-95263600	Weak transcription	Colonic Mucosa	Colon
2	chr5:95236400-95276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:95238200-95282000	Weak transcription	HUVEC	blood vessel
4	chr5:95243400-95278800	Weak transcription	Lung	lung
5	chr5:95243600-95274200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:95246400-95266400	Weak transcription	NHDF-Ad	bronchial
7	chr5:95249800-95271600	Weak transcription	NH-A	brain
8	chr5:95250600-95263000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:95252200-95263800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:95252200-95272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:95252400-95264600	Weak transcription	Ovary	ovary
12	chr5:95252400-95266400	Weak transcription	HSMMtube	muscle
13	chr5:95253400-95262600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:95253800-95272400	Weak transcription	Placenta	Placenta
15	chr5:95254600-95266000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:95256200-95263000	Genic enhancers	NHEK	skin
17	chr5:95257400-95266400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:95257400-95276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:95258600-95262000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:95258600-95262000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:95258600-95262200	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:95258600-95262400	Enhancers	Brain Substantia Nigra	brain
23	chr5:95258800-95262800	Enhancers	Brain Hippocampus Middle	brain
24	chr5:95259000-95262000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr5:95259000-95262200	Enhancers	Brain Angular Gyrus	brain
26	chr5:95259000-95262600	Enhancers	Primary B cells from cord blood	blood
27	chr5:95259000-95264000	Enhancers	Dnd41	blood
28	chr5:95259000-95264600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr5:95259400-95263600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:95259400-95264600	Weak transcription	Gastric	stomach
31	chr5:95259400-95264800	Enhancers	Primary B cells from peripheral blood	blood
32	chr5:95259400-95266800	Weak transcription	Aorta	Aorta
33	chr5:95259400-95271400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:95259400-95271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:95259400-95273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:95259400-95274600	Weak transcription	Psoas Muscle	Psoas
37	chr5:95259600-95262200	Enhancers	Primary hematopoietic stem cells	blood
38	chr5:95259800-95270000	Weak transcription	Right Ventricle	heart
39	chr5:95260000-95264600	Weak transcription	Pancreas	Pancrea
40	chr5:95260000-95264600	Weak transcription	Right Atrium	heart
41	chr5:95260000-95272200	Weak transcription	Left Ventricle	heart
42	chr5:95260000-95280600	Weak transcription	Esophagus	oesophagus
43	chr5:95260200-95262000	Enhancers	Osteobl	bone
44	chr5:95260200-95263000	Enhancers	HepG2	liver
45	chr5:95260200-95263200	Enhancers	Liver	Liver
46	chr5:95260600-95262200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr5:95260600-95262600	Weak transcription	HSMM	muscle
48	chr5:95260800-95262200	Enhancers	K562	blood
49	chr5:95260800-95263800	Weak transcription	Small Intestine	intestine
50	chr5:95260800-95264200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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