Variant report

Variant	rs11183486
Chromosome Location	chr12:46837704-46837705
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46831513..46833080-chr12:46836002..46838071,2	MCF-7	breast:
2	chr12:46778999..46783871-chr12:46835055..46839297,6	MCF-7	breast:
3	chr12:46834177..46835701-chr12:46837215..46839178,2	K562	blood:
4	chr12:46835195..46837772-chr12:46901174..46903724,2	MCF-7	breast:
5	chr12:46835571..46842966-chr12:46847412..46853177,10	MCF-7	breast:
6	chr12:46776052..46777852-chr12:46835550..46837767,2	MCF-7	breast:
7	chr12:46762033..46769988-chr12:46831671..46842896,19	MCF-7	breast:
8	chr12:46831045..46834457-chr12:46835919..46840293,4	MCF-7	breast:
9	chr12:46835538..46838564-chr12:46838793..46843578,4	MCF-7	breast:
10	chr12:46764260..46768417-chr12:46835704..46840651,11	MCF-7	breast:
11	chr12:46774369..46779108-chr12:46835870..46838402,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257496	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10748448	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10748450	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10785627	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10785628	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10785629	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10880966	0.81[AMR][1000 genomes]
rs10880967	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10880968	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10880969	0.86[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10880970	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880971	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10880973	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10880974	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs11183478	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11183479	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11183483	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11183484	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183488	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1125909	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11561535	0.84[AMR][1000 genomes]
rs12099669	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12298616	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12313929	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs12314541	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12319162	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12321960	0.84[YRI][hapmap]
rs12813763	0.85[AMR][1000 genomes]
rs12814298	0.91[AMR][1000 genomes]
rs12814341	0.85[AMR][1000 genomes]
rs12822345	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12824565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12832425	0.85[AMR][1000 genomes]
rs12832777	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1472178	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1472179	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1492895	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2131371	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2220727	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2408497	0.80[AMR][1000 genomes]
rs2408498	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2897951	1.00[CEU][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3936214	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4072304	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4076247	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4077707	0.95[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs4077708	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4258438	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4427617	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768118	0.95[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4768119	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768121	0.89[AMR][1000 genomes]
rs4768122	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768123	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4768699	0.82[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs4768709	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768710	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768711	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768712	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768713	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768714	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768715	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4768716	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768717	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768718	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768719	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4768723	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4768724	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768725	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768727	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4768730	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs6582641	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6582642	0.82[AMR][1000 genomes]
rs6582643	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6582645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6582646	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6582657	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6582658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6582661	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs6582663	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs7134289	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7301001	0.89[AMR][1000 genomes]
rs7311504	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7312259	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7485580	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7485599	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7486495	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7486532	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7486580	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7486915	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7487828	0.81[AMR][1000 genomes]
rs7487877	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7488144	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7488450	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7489242	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7954645	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs7956314	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7959731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7960808	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs7964767	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs7968897	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7976280	0.80[AMR][1000 genomes]
rs7980455	0.82[CEU][hapmap]
rs9669404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9706460	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs9706520	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs9971879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46821600-46848600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:46825400-46844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:46825600-46843800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:46826400-46839200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:46828000-46856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:46831200-46838200	Weak transcription	K562	blood
7	chr12:46831200-46843200	Weak transcription	Left Ventricle	heart
8	chr12:46833600-46840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:46834000-46844000	Weak transcription	Esophagus	oesophagus
10	chr12:46834400-46846200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:46835200-46838600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr12:46835200-46839600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:46835200-46839800	Enhancers	HUVEC	blood vessel
14	chr12:46835600-46840800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:46835800-46837800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:46836600-46839600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:46836600-46840800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:46836600-46840800	Enhancers	HMEC	breast
19	chr12:46836800-46838400	Weak transcription	A549	lung
20	chr12:46836800-46838800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:46836800-46839000	Weak transcription	HSMM	muscle
22	chr12:46836800-46839600	Weak transcription	NHDF-Ad	bronchial
23	chr12:46836800-46840400	Weak transcription	NHLF	lung
24	chr12:46836800-46844000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:46836800-46844200	Weak transcription	NH-A	brain
26	chr12:46837000-46838800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:46837000-46838800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:46837000-46839400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:46837000-46840800	Enhancers	Liver	Liver
30	chr12:46837000-46841400	Enhancers	NHEK	skin
31	chr12:46837000-46844000	Weak transcription	Fetal Intestine Small	intestine
32	chr12:46837000-46844000	Weak transcription	Osteobl	bone
33	chr12:46837200-46839000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:46837200-46840800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:46837200-46841400	Enhancers	Hela-S3	cervix
36	chr12:46837400-46840800	Enhancers	HepG2	liver
37	chr12:46837400-46843200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:46837400-46844000	Weak transcription	Gastric	stomach
39	chr12:46837600-46838000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:46837600-46838400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:46837600-46839000	Weak transcription	Psoas Muscle	Psoas
42	chr12:46837600-46839800	Weak transcription	Pancreas	Pancrea
43	chr12:46837600-46844000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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