Variant report

Variant	rs11870475
Chromosome Location	chr17:33973662-33973663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1037591	0.87[AMR][1000 genomes]
rs10491114	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10491115	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11870399	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12449919	0.84[ASN][1000 genomes]
rs12450039	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12452961	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12603142	0.89[ASN][1000 genomes]
rs1964509	0.87[AMR][1000 genomes]
rs226433	0.84[ASN][1000 genomes]
rs226435	0.84[ASN][1000 genomes]
rs226436	0.84[ASN][1000 genomes]
rs226437	0.84[ASN][1000 genomes]
rs2278950	0.87[AMR][1000 genomes]
rs2301731	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2428463	0.84[ASN][1000 genomes]
rs2523115	0.84[ASN][1000 genomes]
rs28384428	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28384429	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28661650	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3760325	0.84[ASN][1000 genomes]
rs3785759	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3785763	0.89[ASN][1000 genomes]
rs62079728	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7211363	0.84[AMR][1000 genomes]
rs9303689	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9891317	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9904957	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9906037	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9914730	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9916483	0.84[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
6	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr17:33949000-33986400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr17:33950800-33975400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr17:33950800-33975800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:33950800-33978800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:33954200-33982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:33954600-34001800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr17:33954600-34006000	Weak transcription	Stomach Mucosa	stomach
15	chr17:33958200-33981000	Strong transcription	A549	lung
16	chr17:33958200-33983000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:33958200-33992400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:33958200-33992400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:33959200-33978600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:33960000-33973800	Strong transcription	Primary B cells from cord blood	blood
21	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr17:33960200-33987600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:33960400-33975800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:33961000-33975400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr17:33961200-33975600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr17:33961800-33978000	Strong transcription	Fetal Intestine Large	intestine
27	chr17:33963000-33975400	Strong transcription	HUVEC	blood vessel
28	chr17:33963400-34001200	Weak transcription	Aorta	Aorta
29	chr17:33965000-33980400	Weak transcription	Pancreas	Pancrea
30	chr17:33966000-34002000	Strong transcription	Primary T cells from cord blood	blood
31	chr17:33968000-33977200	Weak transcription	Gastric	stomach
32	chr17:33968000-33997600	Weak transcription	HSMMtube	muscle
33	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr17:33968200-33977800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr17:33968200-33984600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:33968400-33977600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr17:33968400-33977600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr17:33968400-33984600	Weak transcription	Fetal Kidney	kidney
39	chr17:33968400-33997800	Weak transcription	Brain Substantia Nigra	brain
40	chr17:33968600-33977200	Weak transcription	Thymus	Thymus
41	chr17:33968600-33980400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:33969000-33976400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:33969000-33976800	Weak transcription	Spleen	Spleen
44	chr17:33969000-33977200	Weak transcription	Fetal Brain Female	brain
45	chr17:33969000-33977400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr17:33969000-33989800	Weak transcription	Psoas Muscle	Psoas
47	chr17:33969000-34001200	Weak transcription	Right Ventricle	heart
48	chr17:33969200-33975000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr17:33969200-33977200	Weak transcription	Lung	lung
50	chr17:33969200-33977400	Weak transcription	Brain Angular Gyrus	brain

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