Variant report

Variant	rs12713274
Chromosome Location	chr2:54848728-54848729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54814029..54817875-chr2:54846911..54850562,3	K562	blood:
2	chr2:54848170..54851894-chr2:54862208..54864352,3	MCF-7	breast:
3	chr2:54842967..54844485-chr2:54847665..54849553,2	MCF-7	breast:
4	chr2:54848261..54850641-chr2:54851753..54853915,3	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166844	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10169954	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10169975	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10170066	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10170355	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10176359	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs10176445	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10182538	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10182836	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10183043	0.92[ASN][1000 genomes]
rs10183867	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10184128	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10187338	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10188185	1.00[CHB][hapmap]
rs10188545	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10193692	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10205410	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10206143	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10208225	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10210502	0.87[ASN][1000 genomes]
rs10528	0.88[CHB][hapmap]
rs1137645	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11892236	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs11892443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11898032	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11898033	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11902987	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11904679	0.89[CHB][hapmap]
rs12713264	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.81[MEX][hapmap];0.90[ASN][1000 genomes]
rs12713265	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12713266	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12713267	0.87[ASN][1000 genomes]
rs12713268	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12713269	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12713273	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.95[ASN][1000 genomes]
rs12987967	0.81[ASN][1000 genomes]
rs13021615	0.88[CHB][hapmap]
rs13386146	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13391522	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13391803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13399656	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13403284	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13407214	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13432302	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17039558	0.89[CHB][hapmap]
rs17045939	1.00[CHB][hapmap]
rs17046036	0.82[ASN][1000 genomes]
rs17046077	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17046097	0.94[CEU][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]
rs17046108	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][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	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3287	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34077590	0.86[ASN][1000 genomes]
rs34094680	0.86[ASN][1000 genomes]
rs354232	0.89[CHB][hapmap]
rs3739109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3796017	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3796018	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3796019	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3796022	0.89[CHB][hapmap]
rs4261758	0.89[CHB][hapmap]
rs4319969	0.89[CHB][hapmap]
rs4346422	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4347868	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4374410	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4455200	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4519566	0.90[ASN][1000 genomes]
rs4577321	0.90[ASN][1000 genomes]
rs4616509	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4641979	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57281248	0.86[ASN][1000 genomes]
rs58419243	0.82[ASN][1000 genomes]
rs6545430	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6545435	1.00[CHB][hapmap];0.81[TSI][hapmap]
rs6706263	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6724136	0.83[ASN][1000 genomes]
rs6734445	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6734536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6739140	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6740893	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6749802	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7340302	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.89[ASN][1000 genomes]
rs7424459	0.92[ASN][1000 genomes]
rs7556752	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7564719	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7569127	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs7584223	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7586066	0.89[ASN][1000 genomes]
rs7586311	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7591204	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7591231	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7599241	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7602992	0.84[ASN][1000 genomes]
rs7608414	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54829800-54859800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:54838800-54848800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:54838800-54860200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:54838800-54893400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:54839000-54864200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:54839200-54861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:54839200-54866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:54839400-54853000	Strong transcription	Fetal Intestine Large	intestine
9	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:54839600-54852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:54839600-54862600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:54840800-54861400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:54841000-54861400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:54841000-54861400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:54841200-54861200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:54841600-54852400	Strong transcription	HSMMtube	muscle
18	chr2:54841600-54856200	Strong transcription	Hela-S3	cervix
19	chr2:54841600-54857000	Strong transcription	HSMM	muscle
20	chr2:54841800-54857000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:54841800-54860000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:54841800-54860000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:54842000-54863600	Strong transcription	Fetal Brain Female	brain
24	chr2:54842400-54856800	Strong transcription	NH-A	brain
25	chr2:54842400-54861400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:54842400-54862800	Strong transcription	NHEK	skin
27	chr2:54842600-54861000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:54842600-54892000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:54842800-54862400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr2:54842800-54867800	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr2:54843000-54861400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:54844200-54850000	Strong transcription	K562	blood
33	chr2:54844400-54860000	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr2:54845400-54850000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:54846000-54850600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:54846000-54856600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr2:54846000-54860800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:54846200-54850400	Strong transcription	NHLF	lung
39	chr2:54846200-54856600	Strong transcription	GM12878-XiMat	blood
40	chr2:54846200-54857000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:54846200-54861400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:54846200-54864400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:54846400-54851800	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr2:54846400-54856800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr2:54846400-54856800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:54846400-54859600	Strong transcription	Osteobl	bone
47	chr2:54846400-54860800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:54846600-54849600	Strong transcription	Aorta	Aorta

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