Variant report

Variant	rs8085047
Chromosome Location	chr18:9595628-9595629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9594858..9597558-chr18:9614248..9616397,2	MCF-7	breast:
2	chr18:9593651..9596050-chr18:9613258..9616024,2	MCF-7	breast:
3	chr18:9595087..9597869-chr18:9607007..9610720,3	MCF-7	breast:
4	chr18:9593612..9595267-chr18:9595493..9597647,2	K562	blood:

Variant related genes	Relation type
ENSG00000263627	Chromatin interaction
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10451359	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11081484	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11874827	0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12458145	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13381718	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2028658	0.80[ASN][1000 genomes]
rs2306134	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28366801	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28838295	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28879133	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826562	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3898762	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56817979	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57356844	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58359806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60220573	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7231313	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7233002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7239271	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7239728	0.91[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs7240432	0.80[ASN][1000 genomes]
rs745218	0.80[CHB][hapmap]
rs9304040	0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9945701	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9946235	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9946612	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9948831	0.82[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs9949507	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9951382	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9961558	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9965762	0.83[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv543644	chr18:9576145-9612516	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:9576200-9597800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr18:9581400-9595800	Weak transcription	Brain Angular Gyrus	brain
5	chr18:9581400-9609200	Weak transcription	Pancreas	Pancrea
6	chr18:9582000-9597000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:9582800-9597600	Weak transcription	Fetal Brain Male	brain
8	chr18:9584800-9596600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr18:9585000-9597200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr18:9588200-9595800	Weak transcription	Spleen	Spleen
11	chr18:9588600-9612400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:9588800-9595800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr18:9589000-9596800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr18:9589000-9597200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr18:9589000-9597200	Weak transcription	Ovary	ovary
16	chr18:9589000-9608800	Weak transcription	Thymus	Thymus
17	chr18:9589000-9609200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:9589000-9611000	Weak transcription	Lung	lung
19	chr18:9589200-9598200	Weak transcription	Primary B cells from cord blood	blood
20	chr18:9589200-9599200	Weak transcription	Fetal Kidney	kidney
21	chr18:9590800-9597600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr18:9591600-9597000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr18:9592000-9597400	Weak transcription	Fetal Brain Female	brain
24	chr18:9592400-9597000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr18:9592400-9599400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr18:9592600-9597000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr18:9592600-9599800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr18:9593000-9598800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr18:9594000-9596600	Weak transcription	Primary T cells from cord blood	blood
30	chr18:9594000-9597200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr18:9594000-9597600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr18:9594000-9599400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr18:9594200-9596400	Enhancers	Fetal Intestine Small	intestine
34	chr18:9594200-9596600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:9594200-9597000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr18:9594200-9597400	Weak transcription	Brain Germinal Matrix	brain
37	chr18:9594200-9600400	Weak transcription	Placenta	Placenta
38	chr18:9594200-9600400	Weak transcription	Fetal Stomach	stomach
39	chr18:9594200-9600600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr18:9594200-9609200	Weak transcription	Aorta	Aorta
41	chr18:9594200-9613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:9594400-9596600	Enhancers	Rectal Smooth Muscle	rectum
43	chr18:9594400-9596800	Enhancers	Colon Smooth Muscle	Colon
44	chr18:9594400-9597000	Weak transcription	Fetal Muscle Leg	muscle
45	chr18:9594400-9597400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr18:9594400-9600000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr18:9594600-9596000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:9594600-9596000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:9594600-9596000	Enhancers	Adipose Nuclei	Adipose
50	chr18:9594600-9596000	Enhancers	Liver	Liver

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