Variant report

Variant	rs2089461
Chromosome Location	chr17:17312332-17312333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17305801..17308448-chr17:17312032..17314293,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1569040	0.92[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1569042	0.84[ASN][1000 genomes]
rs16961654	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16961656	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34243760	0.89[ASN][1000 genomes]
rs34389187	0.89[ASN][1000 genomes]
rs34500456	0.89[ASN][1000 genomes]
rs35815169	0.83[ASN][1000 genomes]
rs56145552	0.89[ASN][1000 genomes]
rs56668001	0.83[ASN][1000 genomes]
rs61246739	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7211180	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8069731	0.84[ASN][1000 genomes]
rs8079827	0.84[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs8080681	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9907592	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv1058849	chr17:17308009-17348548	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1058804	chr17:17308984-17348548	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1062207	chr17:17310099-17344599	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv543234	chr17:17310099-17344599	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv574523	chr17:17310886-17347995	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1056137	chr17:17311017-17348939	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv543235	chr17:17311017-17348939	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17302000-17318800	Weak transcription	Right Atrium	heart
2	chr17:17306600-17315400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr17:17307200-17316600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:17307800-17313000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:17308000-17313400	Weak transcription	Brain Substantia Nigra	brain
6	chr17:17308000-17313600	Weak transcription	Fetal Brain Male	brain
7	chr17:17308000-17314400	Enhancers	Fetal Thymus	thymus
8	chr17:17308000-17322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:17308200-17316600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr17:17308800-17312400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:17308800-17312400	Enhancers	Dnd41	blood
12	chr17:17309200-17312600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:17309600-17313000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:17310000-17312400	Enhancers	HepG2	liver
15	chr17:17310000-17313000	Weak transcription	Fetal Muscle Leg	muscle
16	chr17:17310200-17313000	Weak transcription	Brain Germinal Matrix	brain
17	chr17:17310400-17315400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr17:17310400-17317200	Weak transcription	Lung	lung
19	chr17:17310800-17314200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr17:17311000-17314400	Enhancers	Hela-S3	cervix
21	chr17:17311000-17317800	Weak transcription	Fetal Brain Female	brain
22	chr17:17311400-17312400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:17311400-17312600	Enhancers	Osteobl	bone
24	chr17:17311600-17312400	Weak transcription	Pancreas	Pancrea
25	chr17:17311600-17312400	Enhancers	HUVEC	blood vessel
26	chr17:17311600-17312600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr17:17311600-17313000	Weak transcription	Thymus	Thymus
28	chr17:17311800-17312400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr17:17311800-17312400	Enhancers	A549	lung
30	chr17:17311800-17312600	Weak transcription	Primary T cells from cord blood	blood
31	chr17:17311800-17313200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr17:17312000-17312600	Enhancers	Spleen	Spleen
33	chr17:17312000-17312600	Enhancers	NHDF-Ad	bronchial
34	chr17:17312000-17313000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:17312000-17313200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr17:17312200-17312400	Enhancers	NHLF	lung
37	chr17:17312200-17315800	Weak transcription	Adipose Nuclei	Adipose

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