Variant report

Variant	rs4931538
Chromosome Location	chr12:31821465-31821466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31819291..31822149-chr12:31822447..31825439,3	K562	blood:
2	chr12:31820306..31823293-chr12:31823300..31825334,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10843992	0.85[ASN][1000 genomes]
rs11051514	0.83[ASN][1000 genomes]
rs11051515	0.85[ASN][1000 genomes]
rs11051516	0.85[ASN][1000 genomes]
rs11051517	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11051519	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11051521	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs11051522	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs11051527	0.96[ASN][1000 genomes]
rs11051534	0.96[ASN][1000 genomes]
rs11051535	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051536	0.95[ASN][1000 genomes]
rs11051537	0.82[ASN][1000 genomes]
rs11051538	0.95[ASN][1000 genomes]
rs11051540	0.91[ASN][1000 genomes]
rs11051546	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051547	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12231666	0.90[ASN][1000 genomes]
rs4931536	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4931545	0.92[ASN][1000 genomes]
rs4931546	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4931547	0.91[ASN][1000 genomes]
rs59091295	0.88[ASN][1000 genomes]
rs61561194	0.85[ASN][1000 genomes]
rs61932065	0.90[ASN][1000 genomes]
rs7308889	0.94[ASN][1000 genomes]
rs7316528	0.85[ASN][1000 genomes]
rs7955365	0.87[ASN][1000 genomes]
rs7959989	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[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	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31812800-31823800	Weak transcription	Small Intestine	intestine
2	chr12:31813000-31822000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:31813000-31822000	Weak transcription	NH-A	brain
4	chr12:31813000-31826000	Weak transcription	Gastric	stomach
5	chr12:31813200-31822000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:31813200-31837000	Weak transcription	Fetal Brain Male	brain
7	chr12:31813400-31821600	Weak transcription	Thymus	Thymus
8	chr12:31813400-31821800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:31813400-31821800	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:31813400-31821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:31813400-31821800	Weak transcription	Fetal Lung	lung
12	chr12:31813400-31822000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:31813400-31822000	Weak transcription	Brain Anterior Caudate	brain
14	chr12:31813400-31822000	Weak transcription	Fetal Intestine Large	intestine
15	chr12:31813400-31822000	Weak transcription	Psoas Muscle	Psoas
16	chr12:31813400-31822000	Weak transcription	Right Ventricle	heart
17	chr12:31813400-31822200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:31813400-31822200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:31813400-31825200	Weak transcription	Aorta	Aorta
20	chr12:31813400-31825400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:31813400-31825600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:31813400-31826600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:31813400-31835200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:31813400-31835600	Weak transcription	Brain Angular Gyrus	brain
25	chr12:31813400-31836200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:31813600-31821800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:31813800-31821800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:31814200-31821800	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:31814200-31821800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:31815200-31822000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:31815200-31840600	Weak transcription	Pancreas	Pancrea
32	chr12:31815400-31822200	Weak transcription	Lung	lung
33	chr12:31815600-31821800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:31815800-31826200	Weak transcription	Brain Substantia Nigra	brain
35	chr12:31816000-31821600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:31816000-31821800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:31816000-31821800	Weak transcription	Adipose Nuclei	Adipose
38	chr12:31816000-31822000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:31816400-31822200	Weak transcription	Left Ventricle	heart
40	chr12:31816600-31821800	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:31817200-31821600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:31817200-31822200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:31817400-31821800	Weak transcription	Fetal Kidney	kidney
44	chr12:31817400-31850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:31818400-31821800	Weak transcription	Liver	Liver
46	chr12:31818800-31821800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:31819400-31822000	Weak transcription	Primary B cells from cord blood	blood
48	chr12:31819400-31822200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:31820800-31821800	Enhancers	HepG2	liver
50	chr12:31821000-31821800	Weak transcription	HSMMtube	muscle

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