Variant report

Variant	rs28435349
Chromosome Location	chr17:17403178-17403179
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17402799..17405333-chr17:17413416..17415879,2	K562	blood:
2	chr17:17403140..17409448-chr17:17410177..17415726,8	K562	blood:
3	chr17:17377592..17379713-chr17:17402478..17404778,3	K562	blood:
4	chr17:17398131..17401509-chr17:17403115..17406009,4	MCF-7	breast:
5	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:
6	chr17:17400013..17403525-chr17:17411408..17414122,3	MCF-7	breast:
7	chr17:17402735..17405355-chr17:17407250..17409232,2	K562	blood:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction
ENSG00000265511	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11652200	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1242490	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242493	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242498	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242499	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242500	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242501	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242502	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1242503	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1242505	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1242506	0.85[ASN][1000 genomes]
rs1242511	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242514	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1242515	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242517	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242518	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1263507	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1263509	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12938634	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1918249	0.90[EUR][1000 genomes]
rs2232831	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2660836	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2694920	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2694926	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2694927	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4479310	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4646408	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4646410	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4924868	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4924877	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924890	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924891	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs711352	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7219976	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7220132	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7220217	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7946	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8074074	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8074191	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	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
5	nsv907732	chr17:17381764-17415217	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv907737	chr17:17388167-17411030	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17399600-17413800	Weak transcription	Dnd41	blood
2	chr17:17400600-17406800	Weak transcription	Brain Angular Gyrus	brain
3	chr17:17400600-17409800	Weak transcription	Esophagus	oesophagus
4	chr17:17400600-17410000	Weak transcription	Liver	Liver
5	chr17:17400600-17415200	Weak transcription	Ovary	ovary
6	chr17:17400600-17422000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:17400800-17406400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr17:17400800-17407000	Weak transcription	Fetal Brain Female	brain
9	chr17:17400800-17409000	Weak transcription	Right Ventricle	heart
10	chr17:17400800-17413000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:17400800-17419200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr17:17401000-17406000	Weak transcription	Fetal Brain Male	brain
13	chr17:17401000-17406200	Weak transcription	Fetal Heart	heart
14	chr17:17401000-17406600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr17:17401000-17411200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:17401000-17418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr17:17401000-17425400	Weak transcription	Thymus	Thymus
18	chr17:17401200-17411000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr17:17401200-17415200	Weak transcription	Gastric	stomach
20	chr17:17401400-17406400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:17401600-17406600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:17401600-17407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:17401600-17409200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr17:17402200-17408200	Weak transcription	Fetal Intestine Small	intestine
25	chr17:17403000-17403400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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