Variant report

Variant	rs12814498
Chromosome Location	chr12:51517358-51517359
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51516030..51518469-chr12:51520883..51522469,2	K562	blood:
2	chr12:51475824..51478649-chr12:51516706..51519135,3	MCF-7	breast:
3	chr12:51515480..51517726-chr12:51526699..51529552,2	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1056897	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10747604	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11169682	0.88[EUR][1000 genomes]
rs11169712	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169726	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169727	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169729	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169731	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169732	0.84[AMR][1000 genomes]
rs11169736	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169742	0.88[AMR][1000 genomes]
rs11169752	0.84[AMR][1000 genomes]
rs11169754	0.82[AMR][1000 genomes]
rs11738	0.84[AMR][1000 genomes]
rs11831810	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11831946	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11833022	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11834746	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12370820	0.88[EUR][1000 genomes]
rs12809790	0.97[ASN][1000 genomes]
rs12809832	0.88[AMR][1000 genomes]
rs12810174	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12810455	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12810596	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12810700	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12810990	0.97[ASN][1000 genomes]
rs12811508	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12811658	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12811684	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12812650	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12813309	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12813368	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12819225	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12819517	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820074	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12820559	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12820966	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12822509	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12823402	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12824225	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12826153	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12828349	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12829630	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12833314	0.92[AFR][1000 genomes]
rs12833565	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17296192	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34057357	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34481246	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34498074	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34735738	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768964	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768967	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6580784	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580792	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6580793	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67260912	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67293043	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7135059	0.88[EUR][1000 genomes]
rs7954140	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7958064	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7960381	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7964570	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7976777	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7977104	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7978723	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7980874	0.88[EUR][1000 genomes]
rs970098	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs970099	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477400-51518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51477800-51518400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51477800-51518400	Weak transcription	Pancreas	Pancrea
4	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:51484000-51519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:51488400-51526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:51494600-51518200	Weak transcription	Esophagus	oesophagus
8	chr12:51494800-51518400	Weak transcription	Aorta	Aorta
9	chr12:51496400-51523400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:51501000-51517400	Weak transcription	Psoas Muscle	Psoas
11	chr12:51501000-51521000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:51501800-51518400	Weak transcription	Spleen	Spleen
13	chr12:51502200-51527200	Weak transcription	Colonic Mucosa	Colon
14	chr12:51502600-51518400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:51502800-51531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:51503000-51518400	Weak transcription	NHLF	lung
17	chr12:51503200-51518600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
19	chr12:51503600-51532000	Weak transcription	Brain Angular Gyrus	brain
20	chr12:51504400-51518200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:51504400-51518400	Weak transcription	Ovary	ovary
22	chr12:51504800-51518200	Weak transcription	Gastric	stomach
23	chr12:51504800-51518600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:51504800-51518600	Weak transcription	Brain Substantia Nigra	brain
25	chr12:51504800-51518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:51505200-51518200	Weak transcription	Lung	lung
28	chr12:51507600-51519800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:51507800-51532200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:51507800-51539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:51508000-51543000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:51508200-51518200	Weak transcription	Left Ventricle	heart
33	chr12:51508200-51518200	Weak transcription	HUVEC	blood vessel
34	chr12:51509600-51520800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:51509800-51518200	Weak transcription	Brain Germinal Matrix	brain
36	chr12:51509800-51518600	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:51510200-51518000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:51510200-51518000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:51510200-51518200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:51510200-51518400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:51510200-51518400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:51510200-51518600	Weak transcription	Brain Anterior Caudate	brain
43	chr12:51510200-51518600	Weak transcription	NHDF-Ad	bronchial
44	chr12:51510200-51519200	Weak transcription	Fetal Heart	heart
45	chr12:51510200-51520400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:51510200-51526000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:51510200-51536200	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:51510200-51554400	Weak transcription	K562	blood
49	chr12:51510800-51517800	Weak transcription	Fetal Intestine Small	intestine
50	chr12:51511000-51517800	Weak transcription	Fetal Stomach	stomach

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