Variant report

Variant	rs1242490
Chromosome Location	chr17:17393236-17393237
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17391754..17393754-chr17:17403950..17406372,2	MCF-7	breast:
2	chr17:17380272..17389088-chr17:17391260..17395887,13	K562	blood:
3	chr17:17380262..17386605-chr17:17392311..17397391,9	K562	blood:
4	chr17:17389215..17391542-chr17:17392709..17394489,2	K562	blood:

Variant related genes	Relation type
ENSG00000141026	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11652200	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242493	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1242498	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1242499	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1242500	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1242501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1242502	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1242503	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1242505	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242506	0.86[ASN][1000 genomes]
rs1242511	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242514	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1242515	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1242517	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1242518	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263507	0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1263509	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12938634	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1918249	0.87[EUR][1000 genomes]
rs2232831	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2660836	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2694920	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2694926	1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2694927	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28435349	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4479310	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4646408	0.81[CEU][hapmap];0.84[GIH][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs4646410	1.00[CHB][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4924755	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4924868	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924877	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924890	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs711352	1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219976	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7220132	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7220217	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7946	0.81[CEU][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs8074074	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8074191	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.82[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	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	nsv827909	chr17:17358945-17394331	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17381200-17394200	Weak transcription	Ovary	ovary
2	chr17:17381200-17394400	Weak transcription	Aorta	Aorta
3	chr17:17381200-17395400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:17381200-17397000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:17381400-17394400	Weak transcription	Colonic Mucosa	Colon
6	chr17:17381400-17397000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr17:17381600-17394800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:17381800-17393800	Weak transcription	Fetal Lung	lung
9	chr17:17381800-17396200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:17381800-17397200	Weak transcription	NH-A	brain
11	chr17:17382400-17396400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:17382600-17397800	Weak transcription	Stomach Mucosa	stomach
13	chr17:17384000-17398000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:17384600-17393600	Weak transcription	Lung	lung
15	chr17:17384600-17394400	Weak transcription	Pancreas	Pancrea
16	chr17:17384600-17396800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:17386600-17396400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:17386600-17397400	Strong transcription	Fetal Intestine Small	intestine
19	chr17:17386600-17397800	Strong transcription	Fetal Stomach	stomach
20	chr17:17388000-17398600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr17:17388200-17394000	Weak transcription	HSMMtube	muscle
22	chr17:17388200-17396400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:17388200-17396400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:17388200-17396600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:17388200-17398000	Weak transcription	Small Intestine	intestine
26	chr17:17388200-17398200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr17:17389200-17394200	Weak transcription	Esophagus	oesophagus
28	chr17:17389200-17397000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:17389400-17394000	Weak transcription	Brain Anterior Caudate	brain
30	chr17:17389400-17394200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr17:17389400-17394200	Weak transcription	Gastric	stomach
32	chr17:17389400-17394600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:17389800-17393400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:17390000-17394000	Weak transcription	Thymus	Thymus
35	chr17:17390200-17393800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:17390200-17394200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:17390200-17394600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr17:17390200-17397000	Weak transcription	Psoas Muscle	Psoas
39	chr17:17390600-17395800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr17:17390800-17394600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr17:17390800-17394800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr17:17390800-17395600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr17:17390800-17395800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr17:17390800-17396400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr17:17390800-17396600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:17390800-17397400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr17:17391000-17393400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:17391000-17395400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr17:17391000-17396000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr17:17391000-17396400	Strong transcription	Primary B cells from peripheral blood	blood

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