Variant report

Variant	rs12713268
Chromosome Location	chr2:54808845-54808846
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54785399..54787507-chr2:54807826..54810399,2	K562	blood:
2	chr2:54799877..54801952-chr2:54808384..54810954,2	K562	blood:
3	chr2:54807406..54809056-chr2:54812643..54814659,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10166844	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10169954	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10169975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10170066	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176359	1.00[CHB][hapmap]
rs10176445	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs10182538	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183043	0.92[ASN][1000 genomes]
rs10183867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10187338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188185	1.00[CHB][hapmap]
rs10188545	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10193692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205410	1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10206143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208225	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210502	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10528	0.88[CHB][hapmap]
rs1137645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892236	1.00[CHB][hapmap]
rs11892443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898032	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11898033	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11902987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11904679	0.89[CHB][hapmap]
rs12713264	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713266	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713267	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12713269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713273	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12713274	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12987967	0.81[ASN][1000 genomes]
rs13021615	0.88[CHB][hapmap]
rs13386146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13391522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13399656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13403284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407214	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13423873	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13432302	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17039558	0.89[CHB][hapmap]
rs17045939	1.00[CHB][hapmap]
rs17046077	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17046097	0.88[CEU][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs17046108	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17046257	1.00[CHB][hapmap]
rs2048370	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2229503	1.00[CHB][hapmap]
rs2271329	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs28581481	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34077590	0.92[ASN][1000 genomes]
rs34094680	0.86[ASN][1000 genomes]
rs354232	0.89[CHB][hapmap]
rs3739109	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3796017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3796022	0.89[CHB][hapmap]
rs4261758	0.89[CHB][hapmap]
rs4319969	0.89[CHB][hapmap]
rs4346422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4347868	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4374410	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4455200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4519566	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4577321	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4616509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641979	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57281248	0.92[ASN][1000 genomes]
rs6545430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6545435	1.00[CHB][hapmap]
rs6706263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724136	0.83[ASN][1000 genomes]
rs6734445	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6734536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6739140	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6740893	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6749802	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7340302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7424459	0.92[ASN][1000 genomes]
rs7556752	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564719	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7569127	1.00[CHB][hapmap]
rs7584223	0.88[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7586066	0.95[ASN][1000 genomes]
rs7586311	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591204	0.91[EUR][1000 genomes]
rs7591231	0.96[EUR][1000 genomes]
rs7599241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7602992	0.94[ASN][1000 genomes]
rs7608414	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs9677089	0.84[EUR][1000 genomes];0.84[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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12713268	EML6	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54796800-54810200	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr2:54796800-54810600	Enhancers	Small Intestine	intestine
3	chr2:54801800-54811000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:54802000-54816400	Enhancers	Liver	Liver
5	chr2:54802200-54822600	Weak transcription	Esophagus	oesophagus
6	chr2:54804000-54809400	Enhancers	Fetal Kidney	kidney
7	chr2:54804000-54822400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:54804200-54809400	Enhancers	Thymus	Thymus
9	chr2:54804600-54809800	Enhancers	Fetal Intestine Large	intestine
10	chr2:54804600-54814600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:54805000-54811000	Enhancers	Fetal Thymus	thymus
12	chr2:54805400-54810400	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:54805400-54815800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:54805600-54810000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:54805600-54811800	Weak transcription	Ovary	ovary
17	chr2:54805600-54811800	Weak transcription	NHDF-Ad	bronchial
18	chr2:54805600-54819800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:54806200-54809600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:54806200-54811800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:54806200-54813000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:54806400-54809200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:54806400-54809400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr2:54806600-54809600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:54806800-54809000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:54806800-54809200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:54806800-54809800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:54806800-54811800	Weak transcription	Fetal Brain Male	brain
29	chr2:54806800-54811800	Weak transcription	HSMM	muscle
30	chr2:54806800-54812000	Weak transcription	NHLF	lung
31	chr2:54807000-54810200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:54807000-54811000	Enhancers	Stomach Mucosa	stomach
33	chr2:54807000-54811600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:54807000-54811800	Weak transcription	NHEK	skin
35	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:54807200-54809200	Weak transcription	Brain Substantia Nigra	brain
37	chr2:54807200-54810600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:54807200-54812800	Weak transcription	HSMMtube	muscle
39	chr2:54807200-54814600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:54807200-54814800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:54807200-54815800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:54807200-54816400	Weak transcription	Aorta	Aorta
43	chr2:54807200-54819800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:54807400-54809800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:54807400-54810000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:54807400-54811000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:54807400-54811800	Weak transcription	Dnd41	blood
48	chr2:54807400-54811800	Weak transcription	Osteobl	bone
49	chr2:54807400-54813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:54807600-54809000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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