Variant report

Variant	rs16951580
Chromosome Location	chr17:15397347-15397348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120727335..120730226-chr17:15396535..15398108,2	K562	blood:
2	chr17:15392637..15397367-chr17:15398758..15404412,8	K562	blood:
3	chr17:15389468..15391783-chr17:15396461..15398192,2	K562	blood:

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11078306	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11655100	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11869273	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12325899	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12709321	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12947500	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1548681	0.87[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2323736	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2938175	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4791624	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7209897	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7215138	0.94[CEU][hapmap];0.84[CHB][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7215630	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7218204	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7219580	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7219850	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8071399	0.91[ASN][1000 genomes]
rs880533	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303130	0.85[ASN][1000 genomes]
rs9674557	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9899976	0.91[ASN][1000 genomes]
rs9901555	0.88[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9904490	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9904986	0.94[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.88[ASN][1000 genomes]
rs9908576	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9915127	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
5	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15340600-15399600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:15359200-15404600	Weak transcription	Primary T cells from cord blood	blood
3	chr17:15368400-15405400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr17:15369000-15401600	Weak transcription	Brain Germinal Matrix	brain
5	chr17:15369200-15405000	Weak transcription	Esophagus	oesophagus
6	chr17:15377400-15406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr17:15383200-15419600	Weak transcription	Thymus	Thymus
8	chr17:15383400-15402200	Weak transcription	A549	lung
9	chr17:15383400-15455000	Weak transcription	Gastric	stomach
10	chr17:15383800-15398400	Weak transcription	Fetal Kidney	kidney
11	chr17:15383800-15401400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr17:15383800-15405200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr17:15383800-15406000	Weak transcription	NHEK	skin
14	chr17:15384600-15406200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:15385600-15418000	Weak transcription	Pancreas	Pancrea
16	chr17:15387200-15400000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr17:15387200-15403800	Weak transcription	Liver	Liver
18	chr17:15387200-15417000	Weak transcription	Small Intestine	intestine
19	chr17:15387400-15399400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr17:15387400-15405000	Weak transcription	Lung	lung
21	chr17:15388000-15401600	Weak transcription	Ovary	ovary
22	chr17:15388600-15406000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr17:15389800-15398800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr17:15391800-15399000	Weak transcription	HepG2	liver
25	chr17:15393000-15406000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:15393400-15451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr17:15393600-15399800	Enhancers	Brain Substantia Nigra	brain
28	chr17:15393600-15400400	Enhancers	Brain Hippocampus Middle	brain
29	chr17:15393800-15399400	Weak transcription	Right Ventricle	heart
30	chr17:15393800-15405400	Weak transcription	Colonic Mucosa	Colon
31	chr17:15394000-15400600	Enhancers	Brain Cingulate Gyrus	brain
32	chr17:15394200-15397400	Enhancers	K562	blood
33	chr17:15394400-15405800	Weak transcription	Aorta	Aorta
34	chr17:15394400-15406000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:15394600-15397400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr17:15394600-15398000	Weak transcription	Colon Smooth Muscle	Colon
37	chr17:15394600-15399400	Weak transcription	Right Atrium	heart
38	chr17:15394600-15400600	Weak transcription	Fetal Heart	heart
39	chr17:15394600-15405000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:15394600-15405000	Weak transcription	Fetal Lung	lung
41	chr17:15394600-15405000	Weak transcription	Spleen	Spleen
42	chr17:15394600-15405200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:15394600-15405200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr17:15394600-15405600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr17:15394600-15406400	Weak transcription	Stomach Mucosa	stomach
46	chr17:15394600-15417000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr17:15394800-15400200	Weak transcription	Fetal Brain Female	brain
48	chr17:15394800-15404800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr17:15394800-15405000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion

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