Variant report

Variant	rs4646348
Chromosome Location	chr17:17474307-17474308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17257977..17259755-chr17:17472841..17474511,6	MCF-7	breast:
2	chr17:17254708..17257628-chr17:17472560..17475450,2	MCF-7	breast:
3	chr17:17473371..17475574-chr17:17478724..17480829,2	K562	blood:
4	chr17:17468589..17472630-chr17:17473213..17475663,3	K562	blood:
5	chr17:17259451..17261683-chr17:17470862..17474766,5	MCF-7	breast:
6	chr17:17396655..17401663-chr17:17468787..17474878,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133027	Chromatin interaction
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1020697	1.00[CEU][hapmap]
rs2278952	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3744117	0.92[ASN][1000 genomes]
rs3760187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4646367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646380	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4646381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4646383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646398	1.00[CEU][hapmap]
rs4646400	1.00[CEU][hapmap]
rs56656484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57417963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58146226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58356850	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58810148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58956930	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60343188	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs70959694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8075019	0.97[ASN][1000 genomes]
rs9891823	1.00[CEU][hapmap]

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:90 , 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	chr17:17453400-17477800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:17464200-17477800	Weak transcription	Dnd41	blood
5	chr17:17464800-17474800	Enhancers	Fetal Muscle Leg	muscle
6	chr17:17465600-17484000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr17:17465800-17474800	Enhancers	Adipose Nuclei	Adipose
8	chr17:17465800-17478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:17465800-17478000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:17465800-17478000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr17:17465800-17478000	Weak transcription	NHEK	skin
12	chr17:17465800-17478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:17465800-17478200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr17:17465800-17478200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:17465800-17478200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:17466000-17484000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr17:17466400-17478200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:17466400-17480000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr17:17466800-17475800	Enhancers	Right Ventricle	heart
20	chr17:17467000-17475800	Enhancers	Ovary	ovary
21	chr17:17467200-17478200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr17:17467800-17474400	Enhancers	Brain Germinal Matrix	brain
23	chr17:17468000-17478000	Weak transcription	A549	lung
24	chr17:17468400-17475200	Enhancers	Fetal Brain Male	brain
25	chr17:17468600-17475600	Enhancers	Left Ventricle	heart
26	chr17:17468600-17475800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr17:17468800-17482800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr17:17468800-17484000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:17468800-17484000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr17:17469000-17478400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr17:17469000-17478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr17:17469000-17482000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr17:17469000-17494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr17:17469200-17474400	Enhancers	Fetal Brain Female	brain
35	chr17:17469200-17493600	Weak transcription	Thymus	Thymus
36	chr17:17469600-17475800	Enhancers	Pancreas	Pancrea
37	chr17:17469600-17483800	Weak transcription	Osteobl	bone
38	chr17:17469800-17478600	Weak transcription	NHLF	lung
39	chr17:17470000-17475000	Enhancers	Stomach Mucosa	stomach
40	chr17:17470200-17483800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:17470600-17478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:17470800-17474600	Enhancers	Duodenum Mucosa	Duodenum
43	chr17:17470800-17478400	Weak transcription	Aorta	Aorta
44	chr17:17470800-17483600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr17:17471000-17475600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr17:17471000-17476000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr17:17471000-17478000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr17:17471200-17476000	Genic enhancers	Fetal Intestine Small	intestine
49	chr17:17471200-17478000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr17:17471200-17478000	Weak transcription	Fetal Thymus	thymus

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