Variant report

Variant	rs12622434
Chromosome Location	chr2:180054330-180054331
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10172589	1.00[ASN][1000 genomes]
rs10173853	1.00[AMR][1000 genomes]
rs10176828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10178559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10186707	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10207754	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10208882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10221811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12328593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12329222	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12611473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12612427	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12613089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12616452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12617364	1.00[AMR][1000 genomes]
rs12618724	0.85[ASN][1000 genomes]
rs13382573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13383806	0.90[ASN][1000 genomes]
rs13387502	0.85[ASN][1000 genomes]
rs13391187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13394908	1.00[AMR][1000 genomes]
rs13395559	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13408774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13412820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13417112	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13422693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13429191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16866630	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16866647	0.90[ASN][1000 genomes]
rs28362046	0.90[ASN][1000 genomes]
rs28508327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35041512	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6734127	1.00[AMR][1000 genomes]
rs7578417	0.90[ASN][1000 genomes]
rs7581898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7588135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7601965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7608106	1.00[ASN][1000 genomes]
rs9288024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1807721	chr2:180024167-180076733	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179980000-180056800	Weak transcription	HSMM	muscle
2	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
3	chr2:180006800-180054600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:180015000-180054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:180015000-180056000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:180015000-180060600	Weak transcription	Lung	lung
7	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
8	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:180030400-180055400	Weak transcription	Thymus	Thymus
10	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:180037600-180058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:180041000-180054800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:180041000-180057000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:180041200-180056000	Weak transcription	Fetal Thymus	thymus
15	chr2:180041200-180058800	Weak transcription	Left Ventricle	heart
16	chr2:180041200-180058800	Weak transcription	Ovary	ovary
17	chr2:180043200-180055200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:180043600-180058800	Weak transcription	Gastric	stomach
19	chr2:180044600-180054800	Weak transcription	Fetal Lung	lung
20	chr2:180045000-180054800	Weak transcription	Fetal Kidney	kidney
21	chr2:180046000-180057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:180046200-180054400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:180046200-180054600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:180046400-180061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:180047000-180054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:180049800-180054800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:180051400-180054400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:180051400-180057400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:180051800-180057800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:180052200-180056400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:180052400-180056200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:180052600-180055800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr2:180052600-180056400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:180052800-180055600	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr2:180053200-180056000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr2:180053200-180056800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:180053400-180054600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:180054000-180055200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:180054200-180055000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:180054200-180055000	ZNF genes & repeats	Fetal Heart	heart
41	chr2:180054200-180055000	ZNF genes & repeats	HepG2	liver
42	chr2:180054200-180055000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr2:180054200-180055200	ZNF genes & repeats	NHDF-Ad	bronchial

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