Variant report

Variant	rs2013857
Chromosome Location	chr17:16183739-16183740
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16174439..16177068-chr17:16182949..16184575,2	MCF-7	breast:
2	chr17:16182895..16184855-chr17:16188164..16190735,2	K562	blood:
3	chr17:16171393..16174312-chr17:16182076..16184658,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11078336	1.00[MEX][hapmap]
rs16959542	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs2286666	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap]
rs2324305	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28372800	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3095168	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3095172	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3095173	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3112512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112515	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3112528	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap]
rs3815037	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs57283014	0.87[EUR][1000 genomes]
rs59085792	0.86[EUR][1000 genomes]
rs59514662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7223745	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs73281952	0.87[EUR][1000 genomes]
rs73281964	0.87[EUR][1000 genomes]
rs9914804	0.86[CHB][hapmap];0.85[JPT][hapmap]

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	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
7	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
8	esv3326983	chr17:16138963-16210147	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv907719	chr17:16161036-16185122	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16157400-16185200	Weak transcription	Gastric	stomach
2	chr17:16159400-16189200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:16159600-16188800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr17:16159600-16189000	Weak transcription	Brain Anterior Caudate	brain
5	chr17:16160400-16188400	Weak transcription	Liver	Liver
6	chr17:16163400-16189200	Weak transcription	Left Ventricle	heart
7	chr17:16163600-16189200	Weak transcription	Pancreas	Pancrea
8	chr17:16164000-16185000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:16164000-16189000	Weak transcription	Fetal Brain Female	brain
10	chr17:16164000-16189000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:16166200-16205400	Weak transcription	Brain Hippocampus Middle	brain
12	chr17:16168600-16188800	Weak transcription	Fetal Intestine Large	intestine
13	chr17:16171400-16188200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:16171400-16189000	Weak transcription	Spleen	Spleen
15	chr17:16171600-16188200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:16172000-16185200	Weak transcription	Lung	lung
17	chr17:16172600-16188200	Weak transcription	GM12878-XiMat	blood
18	chr17:16173000-16187800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:16173000-16188200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:16173200-16185400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:16173200-16186800	Weak transcription	Fetal Lung	lung
22	chr17:16173200-16187800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr17:16173200-16188000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:16173400-16187800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr17:16173400-16187800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr17:16173400-16188200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr17:16173600-16185200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:16175000-16189000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:16176200-16188800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr17:16177200-16184200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:16177600-16183800	Weak transcription	NH-A	brain
32	chr17:16177600-16183800	Weak transcription	Osteobl	bone
33	chr17:16177600-16184200	Weak transcription	HSMM	muscle
34	chr17:16177600-16184400	Weak transcription	A549	lung
35	chr17:16177600-16184600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr17:16177600-16184600	Weak transcription	HMEC	breast
37	chr17:16177600-16185000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:16177600-16185000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr17:16177600-16185200	Weak transcription	HUVEC	blood vessel
40	chr17:16177800-16184400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr17:16179000-16189000	Weak transcription	Aorta	Aorta
42	chr17:16179800-16188800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr17:16180000-16188800	Weak transcription	Placenta	Placenta
44	chr17:16180800-16188200	Weak transcription	Adipose Nuclei	Adipose
45	chr17:16181200-16183800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:16181200-16184800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:16181200-16205400	Weak transcription	Dnd41	blood
48	chr17:16181600-16188000	Weak transcription	Fetal Thymus	thymus
49	chr17:16181800-16185200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:16181800-16189400	Weak transcription	H1 Cell Line	embryonic stem cell

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