Variant report

Variant	rs12713264
Chromosome Location	chr2:54805218-54805219
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54802959..54805853-chr2:54855484..54858345,2	MCF-7	breast:
2	chr2:54797516..54799490-chr2:54803547..54805303,2	K562	blood:
3	chr2:54763015..54764801-chr2:54803765..54806395,2	K562	blood:
4	chr2:54804194..54805987-chr2:54812413..54815195,2	MCF-7	breast:
5	chr2:54781728..54792106-chr2:54796721..54808716,28	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10166844	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10169954	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10169975	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10170066	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170355	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176359	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10176445	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10182538	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182836	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183043	0.92[ASN][1000 genomes]
rs10183867	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184128	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10187338	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188185	1.00[CHB][hapmap]
rs10188545	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10193692	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204932	0.82[AFR][1000 genomes]
rs10205410	1.00[CHB][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10206143	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208225	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210502	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10528	0.88[CHB][hapmap]
rs1137645	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892236	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11892443	0.88[CEU][hapmap];1.00[CHB][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]
rs11898032	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11898033	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11902987	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11904679	0.89[CHB][hapmap]
rs12713265	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12713268	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]
rs12713269	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713273	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[ASN][1000 genomes]
rs12713274	0.90[ASN][1000 genomes]
rs12987967	0.81[ASN][1000 genomes]
rs13021615	0.88[CHB][hapmap]
rs13386146	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13391522	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391803	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs13399656	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13403284	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407214	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13423873	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13432302	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17039558	0.89[CHB][hapmap]
rs17045939	1.00[CHB][hapmap]
rs17046077	0.85[CHB][hapmap]
rs17046097	0.84[ASW][hapmap];0.82[TSI][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17046108	0.88[CHB][hapmap]
rs17046257	1.00[CHB][hapmap]
rs2048370	0.88[CHB][hapmap]
rs2229503	1.00[CHB][hapmap]
rs2271329	0.88[CHB][hapmap]
rs28581481	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3287	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.96[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]
rs3796017	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796018	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796019	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs3796022	0.89[CHB][hapmap]
rs4261758	0.89[CHB][hapmap]
rs4319969	0.89[CHB][hapmap]
rs4346422	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4347868	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4374410	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4455200	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4519566	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4577321	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4616509	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641979	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57281248	0.92[ASN][1000 genomes]
rs6545430	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6545435	1.00[CHB][hapmap]
rs6706263	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724136	0.83[ASN][1000 genomes]
rs6734445	1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[LWK][hapmap];0.95[ASN][1000 genomes]
rs6734536	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs6739140	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6740893	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6749802	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7340302	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7424459	0.92[ASN][1000 genomes]
rs7556752	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564719	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7569127	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7584223	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[TSI][hapmap];0.94[ASN][1000 genomes]
rs7586066	0.95[ASN][1000 genomes]
rs7586311	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591204	0.87[EUR][1000 genomes]
rs7591231	0.92[EUR][1000 genomes]
rs7599241	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[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];0.84[MEX][hapmap];0.85[EUR][1000 genomes]
rs9677089	0.85[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
rs12713264	EML6	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54795800-54807000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:54795800-54807600	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr2:54796000-54807600	Enhancers	Brain Angular Gyrus	brain
4	chr2:54796200-54806200	Enhancers	Right Atrium	heart
5	chr2:54796200-54806400	Enhancers	Brain Anterior Caudate	brain
6	chr2:54796200-54806800	Enhancers	Pancreas	Pancrea
7	chr2:54796400-54808800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:54796800-54806800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:54796800-54807400	Enhancers	Psoas Muscle	Psoas
10	chr2:54796800-54810200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr2:54796800-54810600	Enhancers	Small Intestine	intestine
12	chr2:54797400-54808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:54797800-54807000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:54798600-54805600	Enhancers	NHDF-Ad	bronchial
15	chr2:54798800-54806400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:54798800-54806600	Weak transcription	Fetal Brain Male	brain
17	chr2:54800000-54807400	Enhancers	Right Ventricle	heart
18	chr2:54800200-54805800	Enhancers	NHLF	lung
19	chr2:54800200-54806400	Enhancers	Stomach Mucosa	stomach
20	chr2:54800400-54805600	Genic enhancers	HSMM	muscle
21	chr2:54800600-54805400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:54800800-54807000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:54801600-54806200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:54801600-54806600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:54801600-54808600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:54801800-54806400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:54801800-54806400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:54801800-54806600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:54801800-54806600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:54801800-54806600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:54801800-54807400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:54801800-54811000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:54802000-54805400	Enhancers	Duodenum Mucosa	Duodenum
34	chr2:54802000-54806400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr2:54802000-54807000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:54802000-54808400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr2:54802000-54816400	Enhancers	Liver	Liver
38	chr2:54802200-54806600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:54802200-54822600	Weak transcription	Esophagus	oesophagus
40	chr2:54802400-54805400	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr2:54802400-54808600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:54802600-54805400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:54802600-54805600	Enhancers	Gastric	stomach
44	chr2:54802600-54806400	Enhancers	Colonic Mucosa	Colon
45	chr2:54802800-54805600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:54802800-54806400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr2:54802800-54806600	Weak transcription	K562	blood
48	chr2:54803000-54805800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:54803000-54806000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:54803000-54806600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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