Variant report

Variant	rs8065464
Chromosome Location	chr17:46158023-46158024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46103474..46104130-chr17:46157398..46158242,2	MCF-7	breast:
2	chr17:46122926..46125743-chr17:46157405..46159438,2	K562	blood:
3	chr17:46157351..46158291-chr17:46208060..46209189,5	MCF-7	breast:
4	chr17:46157250..46158203-chr17:46174937..46175450,2	MCF-7	breast:
5	chr17:46157288..46158218-chr17:46208391..46209224,3	K562	blood:
6	chr17:46102299..46104272-chr17:46156219..46158747,2	MCF-7	breast:
7	chr17:46156470..46158674-chr17:46175187..46178395,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082641	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000263412	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12602010	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12947056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12953085	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2107308	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34130316	0.86[EUR][1000 genomes]
rs34449497	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62064917	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62064918	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7209484	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7215582	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7224648	0.81[EUR][1000 genomes]
rs8081209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	esv1804681	chr17:46144628-46168544	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	esv3316040	chr17:46155608-46161656	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3316042	chr17:46155663-46161710	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46139200-46162600	Weak transcription	Small Intestine	intestine
2	chr17:46139800-46162600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:46139800-46163600	Weak transcription	Esophagus	oesophagus
4	chr17:46140000-46162400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:46140800-46163200	Weak transcription	Colonic Mucosa	Colon
6	chr17:46142600-46162600	Weak transcription	Fetal Heart	heart
7	chr17:46143800-46163200	Weak transcription	Aorta	Aorta
8	chr17:46144400-46163000	Weak transcription	Psoas Muscle	Psoas
9	chr17:46144800-46177800	Weak transcription	Right Ventricle	heart
10	chr17:46147800-46177600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr17:46149000-46178000	Weak transcription	Lung	lung
12	chr17:46149200-46162600	Weak transcription	Hela-S3	cervix
13	chr17:46152400-46168200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:46152400-46177200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr17:46152600-46176800	Weak transcription	K562	blood
16	chr17:46152600-46177000	Weak transcription	HSMMtube	muscle
17	chr17:46153400-46170800	Weak transcription	HSMM	muscle
18	chr17:46153800-46162600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr17:46153800-46162600	Weak transcription	Fetal Brain Male	brain
20	chr17:46153800-46176800	Weak transcription	NHLF	lung
21	chr17:46154000-46162200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr17:46154000-46162400	Weak transcription	Colon Smooth Muscle	Colon
23	chr17:46154000-46163000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:46154000-46163200	Weak transcription	Pancreas	Pancrea
25	chr17:46154200-46162400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr17:46154200-46163000	Weak transcription	Adipose Nuclei	Adipose
27	chr17:46154200-46163000	Weak transcription	Brain Substantia Nigra	brain
28	chr17:46154200-46163200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr17:46154200-46163600	Weak transcription	NHDF-Ad	bronchial
30	chr17:46154200-46176800	Weak transcription	HMEC	breast
31	chr17:46154200-46177600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr17:46154400-46162200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:46154400-46162200	Weak transcription	Fetal Kidney	kidney
34	chr17:46154400-46162400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr17:46154400-46162600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:46154400-46162600	Weak transcription	Liver	Liver
37	chr17:46154400-46162600	Weak transcription	Brain Hippocampus Middle	brain
38	chr17:46154400-46162600	Weak transcription	Gastric	stomach
39	chr17:46154400-46162600	Weak transcription	Ovary	ovary
40	chr17:46154400-46162600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr17:46154400-46162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr17:46154400-46162600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr17:46154400-46162800	Weak transcription	Brain Germinal Matrix	brain
44	chr17:46154400-46163000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:46154400-46163000	Weak transcription	Brain Anterior Caudate	brain
46	chr17:46154400-46163000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr17:46154400-46163000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr17:46154400-46163200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:46154400-46163200	Weak transcription	Brain Angular Gyrus	brain
50	chr17:46154400-46163200	Weak transcription	Fetal Muscle Leg	muscle

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