Variant report

Variant	rs17085311
Chromosome Location	chr5:95263657-95263658
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	chr5:95262626..95265334-chr5:95402014..95404790,2	K562	blood:
2	chr5:95263040..95265383-chr5:95296310..95298391,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251314	Chromatin interaction
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17085317	0.80[YRI][hapmap]
rs17085336	0.80[YRI][hapmap]
rs17085367	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	esv3421555	chr5:95262021-95264769	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3331990	chr5:95262346-95264544	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3486724	chr5:95262985-95263677	Weak transcription Enhancers Genic enhancers Strong transcription Flanking 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	chr5:95236400-95276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:95238200-95282000	Weak transcription	HUVEC	blood vessel
3	chr5:95243400-95278800	Weak transcription	Lung	lung
4	chr5:95243600-95274200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:95246400-95266400	Weak transcription	NHDF-Ad	bronchial
6	chr5:95249800-95271600	Weak transcription	NH-A	brain
7	chr5:95252200-95263800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:95252200-95272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:95252400-95264600	Weak transcription	Ovary	ovary
10	chr5:95252400-95266400	Weak transcription	HSMMtube	muscle
11	chr5:95253800-95272400	Weak transcription	Placenta	Placenta
12	chr5:95254600-95266000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:95257400-95266400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:95257400-95276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:95259000-95264000	Enhancers	Dnd41	blood
16	chr5:95259000-95264600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:95259400-95264600	Weak transcription	Gastric	stomach
18	chr5:95259400-95264800	Enhancers	Primary B cells from peripheral blood	blood
19	chr5:95259400-95266800	Weak transcription	Aorta	Aorta
20	chr5:95259400-95271400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:95259400-95271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:95259400-95273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:95259400-95274600	Weak transcription	Psoas Muscle	Psoas
24	chr5:95259800-95270000	Weak transcription	Right Ventricle	heart
25	chr5:95260000-95264600	Weak transcription	Pancreas	Pancrea
26	chr5:95260000-95264600	Weak transcription	Right Atrium	heart
27	chr5:95260000-95272200	Weak transcription	Left Ventricle	heart
28	chr5:95260000-95280600	Weak transcription	Esophagus	oesophagus
29	chr5:95260800-95263800	Weak transcription	Small Intestine	intestine
30	chr5:95260800-95264200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:95260800-95264200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:95260800-95273400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:95260800-95295200	Weak transcription	Primary T cells from cord blood	blood
34	chr5:95261200-95264200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:95261200-95265800	Weak transcription	Brain Anterior Caudate	brain
36	chr5:95261400-95263800	Weak transcription	NHLF	lung
37	chr5:95261400-95264000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:95261400-95264200	Weak transcription	Stomach Mucosa	stomach
39	chr5:95261400-95266800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:95261400-95266800	Weak transcription	A549	lung
41	chr5:95261600-95264200	Weak transcription	Fetal Intestine Large	intestine
42	chr5:95261600-95264600	Weak transcription	Fetal Thymus	thymus
43	chr5:95261600-95266000	Weak transcription	HMEC	breast
44	chr5:95261600-95271200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr5:95261800-95263800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:95261800-95271600	Weak transcription	Adipose Nuclei	Adipose
47	chr5:95262000-95263800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:95262000-95264600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:95262000-95264600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:95262000-95265800	Weak transcription	Osteobl	bone

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