Variant report

Variant	rs4646361
Chromosome Location	chr17:17469319-17469320
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17464980..17466543-chr17:17467867..17469531,2	MCF-7	breast:
2	chr17:17463387..17466224-chr17:17469302..17472629,4	MCF-7	breast:
3	chr17:17468589..17472630-chr17:17473213..17475663,3	K562	blood:
4	chr17:17456555..17458234-chr17:17467873..17470234,2	MCF-7	breast:
5	chr17:17467736..17469365-chr17:17470855..17473172,2	MCF-7	breast:
6	chr17:17396655..17401663-chr17:17468787..17474878,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs3760186	0.93[ASN][1000 genomes]
rs4646353	0.96[ASN][1000 genomes]
rs4646360	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646362	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]
rs4646363	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646364	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]
rs4646366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4646374	0.96[ASN][1000 genomes]
rs4646375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4646378	0.96[ASN][1000 genomes]
rs4646382	0.96[ASN][1000 genomes]
rs4646384	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4646386	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs56046764	0.96[ASN][1000 genomes]
rs58874056	1.00[ASN][1000 genomes]
rs58990997	0.90[ASN][1000 genomes]
rs7210045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73298562	0.86[EUR][1000 genomes]
rs73298588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73298590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73300558	0.86[EUR][1000 genomes]
rs73300565	1.00[ASN][1000 genomes]
rs73978972	0.83[ASN][1000 genomes]
rs73978975	0.96[ASN][1000 genomes]
rs8065788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066187	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068641	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs8076828	0.96[ASN][1000 genomes]
rs9902188	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv907746	chr17:17412032-17478917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
8	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
9	nsv1062052	chr17:17461050-17507199	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv543237	chr17:17461050-17507199	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv833383	chr17:17464635-17509138	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17418200-17478000	Weak transcription	Primary T cells from cord blood	blood
2	chr17:17436800-17479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:17445200-17473200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr17:17453400-17477800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:17454800-17469800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:17455200-17471800	Weak transcription	HepG2	liver
7	chr17:17461000-17474000	Enhancers	Liver	Liver
8	chr17:17464200-17472200	Enhancers	Lung	lung
9	chr17:17464200-17477800	Weak transcription	Dnd41	blood
10	chr17:17464600-17473200	Enhancers	Fetal Heart	heart
11	chr17:17464800-17474800	Enhancers	Fetal Muscle Leg	muscle
12	chr17:17465600-17469400	Weak transcription	Brain Hippocampus Middle	brain
13	chr17:17465600-17473000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:17465600-17484000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr17:17465800-17469600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:17465800-17469600	Weak transcription	Pancreas	Pancrea
17	chr17:17465800-17470400	Weak transcription	Brain Angular Gyrus	brain
18	chr17:17465800-17470400	Weak transcription	HSMMtube	muscle
19	chr17:17465800-17474800	Enhancers	Adipose Nuclei	Adipose
20	chr17:17465800-17478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:17465800-17478000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:17465800-17478000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr17:17465800-17478000	Weak transcription	NHEK	skin
24	chr17:17465800-17478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:17465800-17478200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr17:17465800-17478200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:17465800-17478200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:17466000-17469400	Weak transcription	Esophagus	oesophagus
29	chr17:17466000-17484000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr17:17466400-17470600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr17:17466400-17478200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr17:17466400-17480000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:17466600-17470400	Genic enhancers	Fetal Intestine Small	intestine
34	chr17:17466800-17469400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr17:17466800-17475800	Enhancers	Right Ventricle	heart
36	chr17:17467000-17471000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr17:17467000-17475800	Enhancers	Ovary	ovary
38	chr17:17467200-17469600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr17:17467200-17472200	Enhancers	Colonic Mucosa	Colon
40	chr17:17467200-17478200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr17:17467400-17471400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:17467800-17471200	Enhancers	Fetal Thymus	thymus
43	chr17:17467800-17474400	Enhancers	Brain Germinal Matrix	brain
44	chr17:17468000-17469400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr17:17468000-17472200	Enhancers	Psoas Muscle	Psoas
46	chr17:17468000-17478000	Weak transcription	A549	lung
47	chr17:17468200-17469600	Genic enhancers	Fetal Stomach	stomach
48	chr17:17468200-17470200	Weak transcription	Gastric	stomach
49	chr17:17468400-17471800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:17468400-17471800	Enhancers	Brain Cingulate Gyrus	brain

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