Variant report

Variant	rs17385413
Chromosome Location	chr5:118701226-118701227
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118696081..118700363-chr5:118700434..118704100,5	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10519585	1.00[JPT][hapmap]
rs11957102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363223	1.00[MKK][hapmap]
rs1396609	0.85[JPT][hapmap]
rs17145230	0.84[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs17145248	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17145265	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs17145294	1.00[CEU][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3797340	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3797342	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3797343	0.85[JPT][hapmap]
rs6863311	0.89[ASN][1000 genomes]
rs6864305	0.85[JPT][hapmap]
rs6870253	0.82[JPT][hapmap]
rs6876224	0.85[JPT][hapmap]
rs6877025	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs6878879	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6882237	0.89[ASN][1000 genomes]
rs6883657	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6884061	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6896553	0.85[JPT][hapmap]
rs73237292	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73237297	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73239278	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73239280	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7703408	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs986649	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv16366	chr5:118692052-118702846	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv599566	chr5:118698583-118702783	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv599567	chr5:118698983-118702783	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118692000-118707200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118692800-118702000	Weak transcription	Aorta	Aorta
3	chr5:118693400-118706800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr5:118693800-118701600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:118694000-118707200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr5:118694400-118702800	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr5:118694400-118704600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:118694800-118701600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:118694800-118703800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:118695000-118701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:118695000-118702000	Weak transcription	Colonic Mucosa	Colon
12	chr5:118695000-118702400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:118695200-118703000	Genic enhancers	Primary B cells from cord blood	blood
14	chr5:118695200-118706800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:118695400-118701600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:118696000-118702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:118696000-118704200	Weak transcription	Fetal Intestine Small	intestine
18	chr5:118696200-118701400	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:118696200-118702000	Weak transcription	Fetal Kidney	kidney
20	chr5:118696400-118703800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:118696800-118701400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:118696800-118703000	Weak transcription	A549	lung
23	chr5:118696800-118704400	Enhancers	HMEC	breast
24	chr5:118697000-118702000	Weak transcription	Small Intestine	intestine
25	chr5:118697000-118702400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:118697200-118701600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:118697200-118701800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:118697200-118702600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:118697600-118701600	Weak transcription	Pancreas	Pancrea
30	chr5:118697600-118701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:118697600-118701600	Weak transcription	NHDF-Ad	bronchial
32	chr5:118697600-118702000	Weak transcription	Right Atrium	heart
33	chr5:118697600-118702400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:118697600-118703000	Weak transcription	NHLF	lung
35	chr5:118697600-118703400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:118697600-118703600	Weak transcription	HSMM	muscle
37	chr5:118697800-118701400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:118697800-118701600	Weak transcription	Lung	lung
39	chr5:118698000-118701600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:118698000-118701600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:118698000-118702000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:118698000-118702000	Weak transcription	Osteobl	bone
43	chr5:118698200-118702200	Weak transcription	K562	blood
44	chr5:118699000-118701800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:118699200-118701800	Strong transcription	Fetal Thymus	thymus
46	chr5:118699200-118702000	Weak transcription	Esophagus	oesophagus
47	chr5:118699200-118702000	Weak transcription	Right Ventricle	heart
48	chr5:118699400-118701600	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:118699600-118704000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr5:118699800-118701600	Weak transcription	Duodenum Mucosa	Duodenum

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