Variant report

Variant	rs57000611
Chromosome Location	chr17:17338876-17338877
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17335195..17342131-chr17:17347291..17351486,7	MCF-7	breast:
2	chr17:17337262..17338945-chr17:17347016..17349151,2	MCF-7	breast:
3	chr17:17338847..17340811-chr17:17396652..17398902,2	MCF-7	breast:
4	chr17:17336920..17339471-chr17:17342851..17344452,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11869417	0.87[ASN][1000 genomes]
rs11869428	0.87[ASN][1000 genomes]
rs1569043	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16961730	0.87[ASN][1000 genomes]
rs35649200	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59064355	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59819934	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60064514	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7223163	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73978916	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs906405	0.82[EUR][1000 genomes];0.87[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	nsv1058849	chr17:17308009-17348548	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1058804	chr17:17308984-17348548	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1062207	chr17:17310099-17344599	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv543234	chr17:17310099-17344599	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv574523	chr17:17310886-17347995	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1056137	chr17:17311017-17348939	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv543235	chr17:17311017-17348939	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	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
9	nsv515800	chr17:17322196-17344653	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1065710	chr17:17328111-17391443	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17326200-17343400	Weak transcription	Right Atrium	heart
2	chr17:17330200-17350000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:17334800-17339200	Enhancers	Thymus	Thymus
4	chr17:17334800-17339400	Enhancers	HepG2	liver
5	chr17:17334800-17340400	Enhancers	Fetal Thymus	thymus
6	chr17:17335400-17348800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:17336400-17341400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:17337000-17343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:17337200-17339200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:17337600-17343600	Weak transcription	Dnd41	blood
11	chr17:17337800-17340800	Enhancers	A549	lung
12	chr17:17338000-17339400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:17338000-17339400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:17338000-17339600	Enhancers	NHDF-Ad	bronchial
15	chr17:17338200-17339400	Enhancers	Osteobl	bone
16	chr17:17338200-17340000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr17:17338400-17339200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:17338400-17339200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:17338400-17339200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:17338400-17339200	Enhancers	Fetal Intestine Large	intestine
21	chr17:17338400-17339200	Flanking Active TSS	Hela-S3	cervix
22	chr17:17338400-17339400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:17338400-17339600	Enhancers	HUVEC	blood vessel
24	chr17:17338600-17339200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:17338600-17339200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr17:17338600-17339200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr17:17338600-17339400	Enhancers	Brain Germinal Matrix	brain
28	chr17:17338600-17340600	Enhancers	NHLF	lung
29	chr17:17338800-17339000	Enhancers	K562	blood
30	chr17:17338800-17339200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:17338800-17339200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:17338800-17339200	Flanking Active TSS	NH-A	brain
33	chr17:17338800-17339400	Enhancers	HSMM	muscle
34	chr17:17338800-17340200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:17338800-17343800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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