Variant report

Variant	rs17588655
Chromosome Location	chr6:119602104-119602105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119590898..119593723-chr6:119598543..119602207,4	K562	blood:
2	chr6:119601823..119603610-chr6:119610338..119612030,2	K562	blood:
3	chr6:119590898..119592984-chr6:119600707..119602898,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1535934	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17052758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17080943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17588230	0.83[ASN][1000 genomes]
rs17588322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1935477	0.89[CHB][hapmap]
rs2299883	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3798657	0.81[AMR][1000 genomes]
rs56969807	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57719766	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72956777	0.83[ASN][1000 genomes]
rs72960607	0.83[ASN][1000 genomes]
rs72960610	0.83[ASN][1000 genomes]
rs72960613	0.83[ASN][1000 genomes]
rs72960629	0.89[ASN][1000 genomes]
rs72962518	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72962556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964499	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72968477	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72970359	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119589200-119611000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:119590600-119621800	Weak transcription	Placenta	Placenta
3	chr6:119590800-119617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:119590800-119626600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:119591000-119624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:119591200-119604600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:119592000-119602200	Weak transcription	Left Ventricle	heart
8	chr6:119592000-119604200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:119592200-119622200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:119592400-119604800	Weak transcription	Fetal Intestine Large	intestine
11	chr6:119592400-119610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:119592400-119620800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:119592400-119633600	Weak transcription	Primary T cells from cord blood	blood
14	chr6:119592600-119622200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:119592600-119627200	Weak transcription	Dnd41	blood
16	chr6:119593000-119622200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:119593000-119624800	Weak transcription	Fetal Thymus	thymus
18	chr6:119593000-119626800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:119593200-119604600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:119594200-119605000	Strong transcription	HepG2	liver
21	chr6:119597200-119627400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:119597600-119604800	Weak transcription	GM12878-XiMat	blood
23	chr6:119597600-119610800	Weak transcription	Fetal Kidney	kidney
24	chr6:119597800-119604400	Weak transcription	Primary B cells from cord blood	blood
25	chr6:119598600-119602800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:119598600-119603000	Strong transcription	Liver	Liver
27	chr6:119599200-119619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:119599600-119603400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:119599800-119611400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:119599800-119632600	Weak transcription	Spleen	Spleen
31	chr6:119600000-119604400	Weak transcription	Fetal Lung	lung
32	chr6:119600000-119608800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr6:119600000-119629000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:119600200-119604200	Weak transcription	Aorta	Aorta
35	chr6:119600200-119604600	Weak transcription	Pancreas	Pancrea
36	chr6:119600200-119605000	Weak transcription	Lung	lung
37	chr6:119600400-119624000	Weak transcription	Fetal Stomach	stomach
38	chr6:119600600-119602400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr6:119601000-119602800	Enhancers	Hela-S3	cervix
40	chr6:119601000-119606400	Weak transcription	NHEK	skin
41	chr6:119601200-119602400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:119601200-119602600	Enhancers	HSMM	muscle
43	chr6:119601200-119603000	Enhancers	NHDF-Ad	bronchial
44	chr6:119601200-119603400	Enhancers	Fetal Heart	heart
45	chr6:119601400-119602400	Enhancers	NH-A	brain
46	chr6:119601400-119602600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:119601400-119602600	Enhancers	Osteobl	bone
48	chr6:119601400-119603400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:119601400-119603400	Genic enhancers	K562	blood
50	chr6:119601400-119604400	Weak transcription	Colon Smooth Muscle	Colon

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