Variant report

Variant	rs10491114
Chromosome Location	chr17:33954527-33954528
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:33921434..33923649-chr17:33954336..33955867,2	K562	blood:
2	chr17:33954511..33957116-chr17:33962502..33964057,2	K562	blood:
3	chr17:33946407..33948892-chr17:33953816..33956714,3	K562	blood:
4	chr17:33952642..33955408-chr17:33957507..33960024,3	K562	blood:

Variant related genes	Relation type
ENSG00000006125	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1037591	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10491115	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11870399	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11870475	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12449919	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12450039	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12452633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs12452961	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12600662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs12603142	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971117	0.85[AMR][1000 genomes]
rs16971122	0.89[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs1964509	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs226424	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs226427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs226433	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs226435	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs226436	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs226437	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2278950	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2301731	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2428463	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2523115	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28384428	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28384429	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28661650	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760325	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3785759	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3785763	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62079728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7211363	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8080648	0.89[AFR][1000 genomes]
rs9303689	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9891317	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9904644	0.86[ASW][hapmap];0.82[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.81[LWK][hapmap];0.85[YRI][hapmap]
rs9904957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9906037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9907911	0.85[YRI][hapmap];0.93[AFR][1000 genomes]
rs9914730	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916483	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1062793	chr17:33944732-33976685	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
2	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:33926000-33955200	Weak transcription	Pancreas	Pancrea
7	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:33933000-33967400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
10	chr17:33933600-33967400	Weak transcription	Gastric	stomach
11	chr17:33936800-33956800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:33937400-33965000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:33938600-33954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:33940000-33960000	Weak transcription	Right Ventricle	heart
15	chr17:33943400-33956800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:33943600-33956800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:33944600-33957400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:33947000-33958200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:33947800-33955000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:33948400-33973400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr17:33948600-33958200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr17:33948600-33973600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr17:33949000-33986400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr17:33949800-33958800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:33950000-33957200	Strong transcription	Osteobl	bone
28	chr17:33950200-33957200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:33950200-33957800	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr17:33950400-33957400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:33950400-33965400	Strong transcription	HSMM	muscle
32	chr17:33950600-33957200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr17:33950600-33957200	Strong transcription	HMEC	breast
34	chr17:33950600-33957200	Strong transcription	NHDF-Ad	bronchial
35	chr17:33950600-33958200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr17:33950600-33959000	Strong transcription	Placenta	Placenta
37	chr17:33950600-33959000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr17:33950600-33968600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:33950600-33973400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr17:33950800-33954800	Strong transcription	GM12878-XiMat	blood
41	chr17:33950800-33955400	Strong transcription	NH-A	brain
42	chr17:33950800-33955800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr17:33950800-33956800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:33950800-33957200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:33950800-33958000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr17:33950800-33958200	Strong transcription	Fetal Lung	lung
47	chr17:33950800-33958200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr17:33950800-33959000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr17:33950800-33959200	Strong transcription	K562	blood
50	chr17:33950800-33959400	Strong transcription	Dnd41	blood

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