Variant report

Variant	rs8070231
Chromosome Location	chr17:63194945-63194946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:63117950..63119799-chr17:63192625..63195137,2	MCF-7	breast:
2	chr17:63187427..63189575-chr17:63192688..63195181,2	MCF-7	breast:
3	chr17:63132905..63133465-chr17:63194845..63195415,3	MCF-7	breast:
4	chr17:62958227..62960319-chr17:63194695..63197501,2	MCF-7	breast:
5	chr17:63096327..63097282-chr17:63194582..63195093,2	K562	blood:
6	chr17:63189920..63191548-chr17:63193224..63195844,2	MCF-7	breast:
7	chr17:63089804..63090456-chr17:63194799..63195492,2	K562	blood:
8	chr17:63193320..63195470-chr17:63198928..63201793,2	MCF-7	breast:
9	chr17:63051528..63055347-chr17:63193534..63196537,4	MCF-7	breast:
10	chr17:62915055..62916086-chr17:63194764..63195365,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263470	Chromatin interaction
ENSG00000176809	Chromatin interaction
ENSG00000120063	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1122078	0.86[ASN][1000 genomes]
rs1122079	0.80[ASN][1000 genomes]
rs12450751	0.89[ASN][1000 genomes]
rs12450836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533334	0.85[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap]
rs1533335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961183	1.00[CEU][hapmap]
rs16961258	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2292592	0.84[ASN][1000 genomes]
rs2292593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2869577	0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs4790954	0.97[ASN][1000 genomes]
rs4790955	0.98[ASN][1000 genomes]
rs4790956	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4790957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791215	0.83[ASN][1000 genomes]
rs4791217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4791218	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4791220	0.87[CHB][hapmap]
rs57672979	0.87[ASN][1000 genomes]
rs57941427	0.86[ASN][1000 genomes]
rs60116986	0.98[ASN][1000 genomes]
rs60220025	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61524757	0.98[ASN][1000 genomes]
rs7207726	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs73330404	0.98[ASN][1000 genomes]
rs73347657	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994746	0.81[ASN][1000 genomes]
rs8072505	0.88[ASN][1000 genomes]
rs8072603	0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs8075687	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8075956	0.85[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8075981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8077696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078401	0.96[ASN][1000 genomes]
rs8078678	0.86[ASN][1000 genomes]
rs8080420	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9890021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9890087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9898825	0.85[CEU][hapmap]
rs9901108	0.85[CEU][hapmap]
rs9904247	0.88[ASN][1000 genomes]
rs9910643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs9910756	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9916170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916445	0.86[ASN][1000 genomes]
rs9916525	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs9916720	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916766	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63176400-63223800	Weak transcription	Lung	lung
2	chr17:63181200-63197400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr17:63181800-63209600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr17:63184800-63197600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:63188600-63197200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:63189000-63198000	Weak transcription	HUVEC	blood vessel
7	chr17:63189200-63200800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr17:63190000-63199400	Weak transcription	Right Atrium	heart
9	chr17:63190400-63198000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr17:63190400-63198200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:63191200-63198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:63192800-63195000	Enhancers	Fetal Thymus	thymus
13	chr17:63193200-63195000	Enhancers	GM12878-XiMat	blood
14	chr17:63193200-63199000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:63193800-63203200	Weak transcription	Fetal Stomach	stomach
16	chr17:63193800-63209800	Weak transcription	Dnd41	blood
17	chr17:63194000-63198200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:63194600-63195000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:63194600-63195000	Enhancers	Fetal Brain Male	brain
20	chr17:63194800-63195000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr17:63194800-63195000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr17:63194800-63195000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:63194800-63195000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:63194800-63195000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:63194800-63195000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:63194800-63195000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:63194800-63195000	Enhancers	Brain Angular Gyrus	brain
28	chr17:63194800-63195000	Enhancers	Brain Anterior Caudate	brain
29	chr17:63194800-63195000	Enhancers	Brain Cingulate Gyrus	brain
30	chr17:63194800-63195000	Enhancers	Brain Hippocampus Middle	brain
31	chr17:63194800-63195000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:63194800-63195000	Enhancers	Brain Substantia Nigra	brain
33	chr17:63194800-63195000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr17:63194800-63195000	Enhancers	Gastric	stomach
35	chr17:63194800-63195000	Enhancers	Pancreas	Pancrea
36	chr17:63194800-63195000	Enhancers	Hela-S3	cervix
37	chr17:63194800-63195000	Enhancers	NHLF	lung
38	chr17:63194800-63195200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr17:63194800-63195200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr17:63194800-63195200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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