Variant report

Variant	rs2292592
Chromosome Location	chr17:63204209-63204210
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	chr17:63200961..63203579-chr17:63204098..63206713,2	K562	blood:
2	chr17:63203039..63206876-chr17:63207747..63211148,3	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1004533	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1122078	0.82[ASN][1000 genomes]
rs1122079	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12450751	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12450836	0.84[ASN][1000 genomes]
rs1473919	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1473921	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1533335	0.84[ASN][1000 genomes]
rs1554050	0.90[ASN][1000 genomes]
rs16961258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877823	0.92[ASN][1000 genomes]
rs2292593	0.80[JPT][hapmap];0.82[MEX][hapmap];0.85[ASN][1000 genomes]
rs2869577	0.84[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4790953	0.91[ASN][1000 genomes]
rs4790954	0.86[ASN][1000 genomes]
rs4790955	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4790956	0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4790957	0.84[ASN][1000 genomes]
rs4791214	0.87[ASN][1000 genomes]
rs4791215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4791217	0.85[ASN][1000 genomes]
rs4791218	0.82[ASN][1000 genomes]
rs57672979	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57941427	0.91[ASN][1000 genomes]
rs60116986	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60220025	0.85[ASN][1000 genomes]
rs61524757	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7220751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7221174	1.00[EUR][1000 genomes]
rs73330404	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73347657	0.84[ASN][1000 genomes]
rs8066949	0.84[ASN][1000 genomes]
rs8066968	0.84[ASN][1000 genomes]
rs8067258	0.82[ASN][1000 genomes]
rs8070231	0.84[ASN][1000 genomes]
rs8072505	0.93[ASN][1000 genomes]
rs8072603	0.84[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs8075687	0.85[ASN][1000 genomes]
rs8075956	0.85[ASN][1000 genomes]
rs8075981	0.85[ASN][1000 genomes]
rs8077696	0.84[ASN][1000 genomes]
rs8078293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8078401	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8078678	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8080420	0.85[ASN][1000 genomes]
rs8081457	0.90[ASN][1000 genomes]
rs9890021	0.85[ASN][1000 genomes]
rs9890087	0.85[ASN][1000 genomes]
rs9892860	0.84[EUR][1000 genomes]
rs9898101	0.84[EUR][1000 genomes]
rs9904247	0.85[ASN][1000 genomes]
rs9910756	0.85[ASN][1000 genomes]
rs9916170	0.84[ASN][1000 genomes]
rs9916445	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9916525	0.86[ASN][1000 genomes]
rs9916720	0.84[ASN][1000 genomes]
rs9916766	0.84[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63176400-63223800	Weak transcription	Lung	lung
2	chr17:63181800-63209600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr17:63193800-63209800	Weak transcription	Dnd41	blood
4	chr17:63195000-63205000	Weak transcription	Brain Substantia Nigra	brain
5	chr17:63195000-63205400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:63195000-63212400	Weak transcription	Pancreas	Pancrea
7	chr17:63195200-63209000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr17:63199000-63217200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr17:63199200-63211800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:63200000-63206400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:63201200-63209600	Weak transcription	Gastric	stomach
12	chr17:63203200-63208200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:63203400-63206800	Enhancers	Brain Germinal Matrix	brain
14	chr17:63203800-63205800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:63203800-63206000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr17:63204000-63205800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:63204000-63205800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr17:63204000-63207400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:63204000-63208600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:63204200-63204400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:63204200-63204800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr17:63204200-63205000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr17:63204200-63205200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr17:63204200-63205800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:63204200-63205800	Enhancers	Brain Anterior Caudate	brain

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