Variant report

Variant	rs13422693
Chromosome Location	chr2:180086933-180086934
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10172589	0.80[ASN][1000 genomes]
rs10173853	1.00[AMR][1000 genomes]
rs10176828	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10178559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10186707	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10207754	1.00[AMR][1000 genomes]
rs10208882	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10209875	1.00[CHB][hapmap]
rs10210749	0.95[ASN][1000 genomes]
rs10221811	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12328593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12329222	0.81[AFR][1000 genomes]
rs12611473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12612427	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12613089	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12616452	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12617364	1.00[AMR][1000 genomes]
rs12618724	0.85[ASN][1000 genomes]
rs12622434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13382573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13383806	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13387502	0.85[ASN][1000 genomes]
rs13391187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13394908	1.00[AMR][1000 genomes]
rs13395559	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13408774	1.00[CHB][hapmap];1.00[YRI][hapmap];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]
rs13417112	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424092	1.00[CHB][hapmap]
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	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28508327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35041512	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6734127	1.00[AMR][1000 genomes]
rs7578417	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7581898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7588135	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7601965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7608106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9288024	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	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	nsv3061	chr2:180057194-180095718	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1840933	chr2:180068214-180089983	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3341806	chr2:180070495-180093344	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv583865	chr2:180072586-180088968	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1798738	chr2:180084168-180100584	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
3	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:180068400-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:180072400-180090400	Weak transcription	Pancreas	Pancrea
6	chr2:180083800-180087200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:180083800-180088800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:180083800-180088800	Weak transcription	Fetal Heart	heart
9	chr2:180083800-180089000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:180083800-180089000	Weak transcription	HepG2	liver
11	chr2:180083800-180089200	Weak transcription	Psoas Muscle	Psoas
12	chr2:180083800-180090400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:180083800-180091000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:180083800-180092000	Weak transcription	Aorta	Aorta
15	chr2:180083800-180102200	Weak transcription	HMEC	breast
16	chr2:180084000-180088800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:180084000-180089000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:180084000-180089400	Weak transcription	Right Ventricle	heart
19	chr2:180084000-180090400	Weak transcription	Right Atrium	heart
20	chr2:180084000-180091000	Weak transcription	Small Intestine	intestine
21	chr2:180084200-180089000	Weak transcription	Brain Angular Gyrus	brain
22	chr2:180084200-180089000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:180084200-180089000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:180084200-180091000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:180084400-180089000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:180085200-180091200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:180085400-180091200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:180085600-180088400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:180085600-180088800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:180085600-180089000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:180086200-180087000	Enhancers	Adipose Nuclei	Adipose
32	chr2:180086400-180087000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:180086400-180089200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:180086600-180087000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:180086600-180087000	Enhancers	Brain Hippocampus Middle	brain
36	chr2:180086600-180087600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:180086600-180088000	Enhancers	Brain Substantia Nigra	brain
38	chr2:180086800-180087200	Enhancers	Colon Smooth Muscle	Colon
39	chr2:180086800-180087400	Enhancers	Brain Anterior Caudate	brain
40	chr2:180086800-180087400	Enhancers	Osteobl	bone
41	chr2:180086800-180087600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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