Variant report

Variant	rs12648512
Chromosome Location	chr4:152085087-152085088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10020317	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10461253	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10461254	0.89[ASN][1000 genomes]
rs10461255	0.90[ASN][1000 genomes]
rs10776522	0.92[ASN][1000 genomes]
rs10857253	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11099792	0.80[ASN][1000 genomes]
rs11099793	0.80[ASN][1000 genomes]
rs11733964	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11734577	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11934792	0.99[ASN][1000 genomes]
rs11938717	0.82[ASN][1000 genomes]
rs12505974	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12644496	0.93[ASN][1000 genomes]
rs12647306	0.93[ASN][1000 genomes]
rs13101417	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13111753	0.91[ASN][1000 genomes]
rs13122245	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13125574	0.92[ASN][1000 genomes]
rs13130167	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13145829	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2280280	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2407407	0.80[ASN][1000 genomes]
rs2407408	0.80[ASN][1000 genomes]
rs2407409	0.80[ASN][1000 genomes]
rs2407410	0.80[ASN][1000 genomes]
rs2407412	0.80[ASN][1000 genomes]
rs2407417	0.80[ASN][1000 genomes]
rs2407418	0.81[ASN][1000 genomes]
rs2407431	0.99[ASN][1000 genomes]
rs2407438	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2897655	0.80[ASN][1000 genomes]
rs2897656	0.80[ASN][1000 genomes]
rs2897659	0.82[ASN][1000 genomes]
rs3792611	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4266274	0.93[ASN][1000 genomes]
rs4696234	0.80[ASN][1000 genomes]
rs4696658	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6816613	0.82[ASN][1000 genomes]
rs6816651	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6818874	0.82[ASN][1000 genomes]
rs6827056	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6832257	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6844546	0.94[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6846323	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6846981	0.95[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7664483	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7669180	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7691584	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9994290	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152025200-152085400	Weak transcription	Hela-S3	cervix
2	chr4:152027000-152086600	Weak transcription	Fetal Kidney	kidney
3	chr4:152027200-152095600	Weak transcription	Pancreas	Pancrea
4	chr4:152043400-152095800	Weak transcription	Placenta	Placenta
5	chr4:152047400-152087800	Weak transcription	Psoas Muscle	Psoas
6	chr4:152050600-152087000	Weak transcription	HSMMtube	muscle
7	chr4:152051600-152087200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:152055000-152105800	Weak transcription	Small Intestine	intestine
9	chr4:152059200-152087000	Weak transcription	Fetal Heart	heart
10	chr4:152062200-152090000	Weak transcription	Brain Anterior Caudate	brain
11	chr4:152064200-152087400	Weak transcription	A549	lung
12	chr4:152065000-152091800	Weak transcription	HMEC	breast
13	chr4:152065400-152087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:152065600-152089200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:152065800-152086600	Weak transcription	NHLF	lung
16	chr4:152065800-152086800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:152066000-152087000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:152066000-152095200	Weak transcription	Esophagus	oesophagus
19	chr4:152066200-152092600	Weak transcription	Colonic Mucosa	Colon
20	chr4:152066200-152095800	Weak transcription	Gastric	stomach
21	chr4:152066400-152095800	Weak transcription	Aorta	Aorta
22	chr4:152067000-152090000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:152069200-152090000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:152069400-152090000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:152069600-152086400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:152069600-152087800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:152069600-152087800	Weak transcription	Right Ventricle	heart
28	chr4:152069600-152087800	Weak transcription	HSMM	muscle
29	chr4:152069600-152089200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:152069800-152085200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:152069800-152087200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:152070800-152086600	Weak transcription	Osteobl	bone
33	chr4:152070800-152086800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:152070800-152089400	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:152070800-152093800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:152071000-152085200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:152071000-152090000	Weak transcription	NH-A	brain
38	chr4:152074000-152088000	Strong transcription	Fetal Intestine Large	intestine
39	chr4:152074200-152085200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:152074200-152085400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:152074800-152086400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:152076000-152086600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:152076000-152086800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:152078800-152085200	Weak transcription	Ovary	ovary
45	chr4:152079000-152085200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:152079200-152089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:152079200-152090000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:152079400-152086400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:152079400-152095800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:152080400-152090600	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links