Variant report

Variant	rs4924755
Chromosome Location	chr17:17397131-17397132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11652200	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1242490	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1242493	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1242498	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242499	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242500	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242501	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242502	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1242503	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242505	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1242506	0.84[ASN][1000 genomes]
rs1242511	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1242514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1242515	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1242517	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1242518	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1263507	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1263509	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12938634	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1918249	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2232831	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2660836	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2694920	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2694926	1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2694927	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28435349	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4479310	0.91[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4646408	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs4646410	0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4924868	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924877	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924890	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924891	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs711352	0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7219976	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7220132	0.91[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7220217	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7946	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8074074	0.81[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8074191	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17381800-17397200	Weak transcription	NH-A	brain
2	chr17:17382600-17397800	Weak transcription	Stomach Mucosa	stomach
3	chr17:17384000-17398000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:17386600-17397400	Strong transcription	Fetal Intestine Small	intestine
5	chr17:17386600-17397800	Strong transcription	Fetal Stomach	stomach
6	chr17:17388000-17398600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:17388200-17398000	Weak transcription	Small Intestine	intestine
8	chr17:17388200-17398200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr17:17390800-17397400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:17391400-17397200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:17391600-17398600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:17391600-17399600	Strong transcription	Dnd41	blood
13	chr17:17391800-17397200	Weak transcription	Brain Angular Gyrus	brain
14	chr17:17391800-17398600	Weak transcription	Fetal Kidney	kidney
15	chr17:17391800-17399800	Weak transcription	K562	blood
16	chr17:17392400-17397800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr17:17393400-17398000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:17393600-17397400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:17394000-17397400	Strong transcription	Thymus	Thymus
20	chr17:17394400-17397200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:17394600-17397400	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr17:17394800-17397400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:17394800-17397800	Weak transcription	HSMMtube	muscle
24	chr17:17395200-17398000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:17395200-17398000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr17:17395400-17397200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr17:17395400-17398200	Weak transcription	Primary B cells from cord blood	blood
28	chr17:17395600-17397800	Weak transcription	Osteobl	bone
29	chr17:17395600-17398000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:17395800-17397200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:17395800-17397800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr17:17395800-17397800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr17:17395800-17398200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:17395800-17398200	Weak transcription	Esophagus	oesophagus
35	chr17:17395800-17398600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr17:17396000-17397200	Weak transcription	Colonic Mucosa	Colon
37	chr17:17396000-17397200	Enhancers	Fetal Heart	heart
38	chr17:17396000-17397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:17396000-17397800	Weak transcription	GM12878-XiMat	blood
40	chr17:17396000-17397800	Weak transcription	NHEK	skin
41	chr17:17396000-17398000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:17396000-17398400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:17396000-17398400	Weak transcription	A549	lung
44	chr17:17396200-17397200	Weak transcription	Fetal Brain Male	brain
45	chr17:17396200-17397400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr17:17396200-17397400	Weak transcription	Liver	Liver
47	chr17:17396200-17397400	Weak transcription	Brain Substantia Nigra	brain
48	chr17:17396200-17397800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr17:17396200-17397800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr17:17396200-17397800	Weak transcription	Colon Smooth Muscle	Colon

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