Variant report

Variant	rs2886048
Chromosome Location	chr17:67088942-67088943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:67043107..67046503-chr17:67087487..67090701,3	K562	blood:
2	chr17:67087380..67090007-chr17:67103818..67105746,2	K562	blood:
3	chr17:67083309..67086380-chr17:67087124..67091050,4	K562	blood:
4	chr17:67074921..67077077-chr17:67087340..67089647,2	K562	blood:
5	chr17:67088137..67090811-chr17:67098460..67099975,2	K562	blood:
6	chr17:67083309..67086941-chr17:67087664..67091050,5	K562	blood:
7	chr17:67087494..67092191-chr17:67094325..67097858,5	K562	blood:
8	chr17:67088212..67090645-chr17:67172453..67175365,2	K562	blood:
9	chr17:67072787..67074719-chr17:67087399..67089601,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265331	Chromatin interaction
ENSG00000154258	Chromatin interaction
ENSG00000154262	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10491178	0.82[CHB][hapmap];0.87[CHD][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11077946	0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11656320	0.94[ASW][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12103556	0.82[CHB][hapmap];0.87[CHD][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12600759	0.95[ASN][1000 genomes]
rs12601012	0.90[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12602007	0.85[EUR][1000 genomes]
rs12602396	0.82[CHB][hapmap];0.95[CHD][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs12602766	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12602816	0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs12602962	0.85[EUR][1000 genomes]
rs12604047	0.81[EUR][1000 genomes]
rs12938420	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945932	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948410	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468514	1.00[ASW][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16973562	0.82[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs16973656	0.82[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16973672	0.80[ASN][1000 genomes]
rs16973722	0.82[CHB][hapmap];0.86[CHD][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs1860120	0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968099	0.83[EUR][1000 genomes]
rs2233767	0.82[CHB][hapmap];0.87[CHD][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2233768	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2286419	0.91[CHB][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2302289	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35991088	0.82[CHB][hapmap];0.87[CHD][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap]
rs36145749	0.85[EUR][1000 genomes]
rs41496448	0.82[CHB][hapmap];0.87[CHD][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs4968786	0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs4968837	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4968844	0.82[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968996	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57736258	0.85[EUR][1000 genomes]
rs58452744	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58761646	0.83[EUR][1000 genomes]
rs6502001	1.00[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs6502002	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502005	1.00[ASW][hapmap];0.87[CEU][hapmap];0.82[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7209351	0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7212506	1.00[ASW][hapmap];0.82[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7212963	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73356149	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs736528	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7501583	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7501929	0.83[EUR][1000 genomes]
rs758255	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs764178	0.82[CHB][hapmap]
rs8065842	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8067965	0.82[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8068468	0.82[CHB][hapmap];0.85[CHD][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs8080508	0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8081118	0.82[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8082114	0.94[ASW][hapmap];0.91[CHB][hapmap];0.95[LWK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9282553	0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9282554	0.82[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9282555	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9889289	0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9896308	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9904389	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9905622	0.83[EUR][1000 genomes]
rs9909265	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1066998	chr17:67060038-67090475	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv908705	chr17:67061898-67112456	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	esv1850212	chr17:67081732-67117428	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	esv3412214	chr17:67086932-67089005	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67067200-67099600	Weak transcription	Gastric	stomach
2	chr17:67067200-67111600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:67071800-67091400	Weak transcription	Brain Anterior Caudate	brain
4	chr17:67076800-67109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr17:67079400-67090600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr17:67079400-67093600	Weak transcription	Fetal Stomach	stomach
8	chr17:67079400-67095600	Weak transcription	Psoas Muscle	Psoas
9	chr17:67079400-67112200	Strong transcription	Liver	Liver
10	chr17:67079400-67112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:67079400-67117600	Weak transcription	Esophagus	oesophagus
12	chr17:67079600-67091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr17:67079600-67101200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:67079600-67114200	Weak transcription	NHDF-Ad	bronchial
15	chr17:67080800-67090800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr17:67080800-67112000	Weak transcription	Brain Substantia Nigra	brain
17	chr17:67081200-67090800	Weak transcription	Fetal Muscle Leg	muscle
18	chr17:67081200-67102000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr17:67081400-67089400	Weak transcription	Ovary	ovary
20	chr17:67081400-67090400	Weak transcription	Left Ventricle	heart
21	chr17:67081400-67095000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
23	chr17:67082200-67114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:67083800-67090200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr17:67084200-67089000	Weak transcription	Adipose Nuclei	Adipose
26	chr17:67085800-67099600	Weak transcription	Lung	lung
27	chr17:67087000-67089600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:67087000-67114600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:67087800-67089200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr17:67088000-67089000	Transcr. at gene 5' and 3'	K562	blood
32	chr17:67088000-67089200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:67088200-67089000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:67088400-67089000	Enhancers	Primary B cells from cord blood	blood
35	chr17:67088400-67089800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr17:67088400-67090600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr17:67088600-67089000	Enhancers	Pancreas	Pancrea
38	chr17:67088600-67089200	Enhancers	Primary hematopoietic stem cells	blood
39	chr17:67088600-67089200	Strong transcription	Fetal Lung	lung
40	chr17:67088600-67089400	Enhancers	Fetal Intestine Large	intestine
41	chr17:67088600-67089400	Enhancers	HUVEC	blood vessel
42	chr17:67088600-67089800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr17:67088600-67089800	Enhancers	Fetal Intestine Small	intestine
44	chr17:67088600-67089800	ZNF genes & repeats	GM12878-XiMat	blood
45	chr17:67088800-67089400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr17:67088800-67090000	Enhancers	Primary B cells from peripheral blood	blood
47	chr17:67088800-67090000	Enhancers	Fetal Kidney	kidney
48	chr17:67088800-67090400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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