Variant report

Variant	rs57146223
Chromosome Location	chr17:20046665-20046666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20044857..20047131-chr17:20049325..20051781,3	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11204422	0.80[ASN][1000 genomes]
rs11654025	0.80[ASN][1000 genomes]
rs11869931	0.80[ASN][1000 genomes]
rs11870381	0.91[ASN][1000 genomes]
rs11870673	0.88[ASN][1000 genomes]
rs12451216	0.88[ASN][1000 genomes]
rs12451841	0.82[ASN][1000 genomes]
rs12942179	0.80[ASN][1000 genomes]
rs12947713	0.80[ASN][1000 genomes]
rs12949710	0.80[ASN][1000 genomes]
rs1468953	0.80[ASN][1000 genomes]
rs17685923	0.80[ASN][1000 genomes]
rs17686798	0.88[ASN][1000 genomes]
rs17759959	0.87[ASN][1000 genomes]
rs2034110	0.88[ASN][1000 genomes]
rs34370440	0.82[ASN][1000 genomes]
rs34756775	0.80[ASN][1000 genomes]
rs35041742	0.88[ASN][1000 genomes]
rs35124809	0.80[ASN][1000 genomes]
rs35191778	0.80[ASN][1000 genomes]
rs35244101	0.80[ASN][1000 genomes]
rs35493088	0.80[ASN][1000 genomes]
rs36051592	0.90[ASN][1000 genomes]
rs3940274	0.88[ASN][1000 genomes]
rs4341795	0.80[ASN][1000 genomes]
rs4346259	0.80[ASN][1000 genomes]
rs4350625	0.80[ASN][1000 genomes]
rs4471741	0.80[ASN][1000 genomes]
rs4924808	0.88[ASN][1000 genomes]
rs4925075	0.80[ASN][1000 genomes]
rs4925076	0.80[ASN][1000 genomes]
rs4925078	0.80[ASN][1000 genomes]
rs4925088	0.87[ASN][1000 genomes]
rs62067488	0.80[ASN][1000 genomes]
rs7215803	0.80[ASN][1000 genomes]
rs7223363	0.86[ASN][1000 genomes]
rs7225249	0.96[ASN][1000 genomes]
rs7503407	0.80[ASN][1000 genomes]
rs8066705	0.91[ASN][1000 genomes]
rs8074791	0.91[ASN][1000 genomes]
rs8075343	0.80[ASN][1000 genomes]
rs8081817	0.80[ASN][1000 genomes]
rs888424	0.80[ASN][1000 genomes]
rs972966	0.92[ASN][1000 genomes]
rs9901125	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
11	nsv833396	chr17:20029183-20150808	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv2003	chr17:20046306-20090653	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20026200-20049800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr17:20029600-20058800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:20031600-20052400	Weak transcription	Brain Anterior Caudate	brain
4	chr17:20031800-20052600	Weak transcription	Brain Hippocampus Middle	brain
5	chr17:20031800-20056400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr17:20032000-20058600	Weak transcription	A549	lung
7	chr17:20034800-20049400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:20034800-20054400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:20035000-20048600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:20040200-20048600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:20040600-20052400	Weak transcription	Aorta	Aorta
12	chr17:20042400-20049800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr17:20042800-20058400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:20044600-20049000	Weak transcription	Spleen	Spleen
15	chr17:20044800-20047000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:20044800-20048600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:20045200-20047000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:20045200-20048600	Weak transcription	Ovary	ovary
19	chr17:20045400-20046800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr17:20045400-20047000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr17:20045400-20058400	Weak transcription	K562	blood
22	chr17:20045800-20047200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr17:20046000-20047000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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