Variant report

Variant	rs1942954
Chromosome Location	chr18:8072452-8072453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8051019..8052876-chr18:8070132..8072899,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10164212	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10502366	0.92[CEU][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10513902	0.80[ASN][1000 genomes]
rs11081350	0.92[CEU][hapmap];0.82[JPT][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11081351	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11081359	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12326285	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17567141	0.85[ASW][hapmap];0.88[CEU][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap]
rs17567847	1.00[CEU][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1942952	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1942953	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28449906	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28505217	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28615299	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34818456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34861291	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35534506	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35608995	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4602134	0.92[CEU][hapmap]
rs567595	0.93[ASW][hapmap]
rs62089513	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62089548	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62089549	0.95[ASN][1000 genomes]
rs67464310	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7351012	0.96[CEU][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap]
rs9807748	0.85[ASW][hapmap];0.92[CEU][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9807802	0.88[CHD][hapmap];0.83[GIH][hapmap];0.81[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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8045800-8072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:8047000-8073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:8052600-8078200	Weak transcription	Ovary	ovary
4	chr18:8052600-8105200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:8063600-8073800	Weak transcription	Pancreas	Pancrea
6	chr18:8063600-8074000	Weak transcription	Liver	Liver
7	chr18:8065600-8073600	Weak transcription	Left Ventricle	heart
8	chr18:8065600-8101600	Weak transcription	Aorta	Aorta
9	chr18:8066200-8094000	Weak transcription	Hela-S3	cervix
10	chr18:8067000-8085800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr18:8067400-8110200	Weak transcription	Right Ventricle	heart
12	chr18:8067600-8094800	Weak transcription	NHDF-Ad	bronchial
13	chr18:8067800-8081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:8067800-8081600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr18:8068000-8078800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr18:8068000-8084000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:8068000-8085800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:8068000-8092400	Weak transcription	Thymus	Thymus
19	chr18:8068000-8094800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr18:8068000-8100000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:8068400-8078200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr18:8068400-8095200	Weak transcription	Lung	lung
23	chr18:8068400-8101600	Weak transcription	Fetal Stomach	stomach
24	chr18:8068400-8102400	Weak transcription	Fetal Thymus	thymus
25	chr18:8068600-8124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:8068800-8073000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:8068800-8084400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr18:8068800-8084800	Weak transcription	Fetal Heart	heart
29	chr18:8069000-8087600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr18:8069000-8102200	Weak transcription	Fetal Muscle Leg	muscle
31	chr18:8069000-8102400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr18:8069000-8102400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr18:8069400-8103400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr18:8069600-8088400	Weak transcription	HMEC	breast
35	chr18:8069600-8102400	Weak transcription	Brain Anterior Caudate	brain
36	chr18:8070000-8073600	Weak transcription	Psoas Muscle	Psoas
37	chr18:8070000-8085800	Weak transcription	Brain Substantia Nigra	brain
38	chr18:8070000-8085800	Weak transcription	A549	lung
39	chr18:8070000-8093200	Weak transcription	Fetal Lung	lung
40	chr18:8070000-8097600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr18:8070200-8078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:8070200-8085400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:8071400-8073800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:8072000-8077000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:8072000-8079000	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links