Variant report

Variant	rs17163702
Chromosome Location	chr5:128443859-128443860
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	chr5:128437573..128439694-chr5:128442037..128444712,2	MCF-7	breast:
2	chr5:128429310..128432556-chr5:128440701..128444260,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066583	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10038006	1.00[JPT][hapmap]
rs10065480	1.00[JPT][hapmap]
rs10071939	1.00[JPT][hapmap]
rs11743701	1.00[JPT][hapmap]
rs11749027	1.00[JPT][hapmap]
rs17617241	1.00[JPT][hapmap]
rs17617329	1.00[JPT][hapmap]
rs17679250	1.00[JPT][hapmap]
rs2312243	1.00[CHB][hapmap]
rs3851463	1.00[JPT][hapmap]
rs6859805	1.00[JPT][hapmap]
rs6889473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73784851	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730969	1.00[JPT][hapmap]
rs7735034	1.00[JPT][hapmap]
rs9686953	1.00[JPT][hapmap]

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	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1015525	chr5:128335133-128443859	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128431200-128447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:128431400-128450600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:128431400-128457400	Weak transcription	Lung	lung
4	chr5:128431600-128444000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:128431600-128446000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:128431600-128446400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:128431600-128450400	Weak transcription	Placenta	Placenta
8	chr5:128431600-128450400	Weak transcription	HSMM	muscle
9	chr5:128431600-128454200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:128431800-128446400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:128432200-128450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:128432200-128454600	Weak transcription	Aorta	Aorta
13	chr5:128432400-128446000	Weak transcription	HMEC	breast
14	chr5:128432400-128450400	Weak transcription	Brain Angular Gyrus	brain
15	chr5:128433400-128453800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:128434000-128444200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:128434000-128448800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:128434000-128455600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:128434000-128458400	Weak transcription	Esophagus	oesophagus
20	chr5:128434200-128446200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:128434200-128446400	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:128434400-128447000	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:128434400-128454200	Weak transcription	Colonic Mucosa	Colon
24	chr5:128434400-128461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:128434600-128445600	Weak transcription	Small Intestine	intestine
26	chr5:128434800-128446400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:128434800-128461600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:128435000-128446400	Weak transcription	Brain Substantia Nigra	brain
29	chr5:128435000-128446800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:128435200-128445400	Weak transcription	Right Ventricle	heart
31	chr5:128435200-128450400	Weak transcription	HUVEC	blood vessel
32	chr5:128435200-128452800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:128435200-128453000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:128435200-128462200	Weak transcription	Pancreas	Pancrea
35	chr5:128435600-128453200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:128435800-128445800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:128436000-128447000	Weak transcription	GM12878-XiMat	blood
38	chr5:128438200-128444200	Weak transcription	Psoas Muscle	Psoas
39	chr5:128438600-128444400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:128439600-128456200	Weak transcription	Spleen	Spleen
41	chr5:128440000-128452800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:128440600-128444000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:128440600-128444000	Strong transcription	Liver	Liver
44	chr5:128440600-128444000	Strong transcription	K562	blood
45	chr5:128440600-128444400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:128440600-128444600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr5:128440600-128452800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr5:128440800-128444000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:128440800-128444200	Strong transcription	Dnd41	blood
50	chr5:128441000-128444000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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