Variant report

Variant	rs12306815
Chromosome Location	chr12:10768596-10768597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:10766141..10768697-chr12:10873862..10876046,3	MCF-7	breast:
2	chr12:10765432..10767143-chr12:10767559..10769476,2	MCF-7	breast:
3	chr12:10759828..10762348-chr12:10763400..10769792,9	K562	blood:
4	chr12:10766930..10769742-chr12:10774668..10777182,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000060138	Chromatin interaction
ENSG00000111196	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10083164	0.83[JPT][hapmap]
rs1026442	1.00[JPT][hapmap]
rs10431297	0.82[JPT][hapmap]
rs1054396	1.00[JPT][hapmap]
rs1073305	0.82[JPT][hapmap]
rs10743911	0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10772334	1.00[JPT][hapmap]
rs10772340	0.82[JPT][hapmap]
rs10772343	0.81[JPT][hapmap]
rs10772347	0.82[JPT][hapmap]
rs10845180	1.00[JPT][hapmap]
rs10845181	0.82[JPT][hapmap]
rs10845184	0.97[ASN][1000 genomes]
rs10845185	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10845192	0.82[JPT][hapmap]
rs10845194	0.81[JPT][hapmap]
rs10845195	0.82[JPT][hapmap]
rs10845197	0.80[JPT][hapmap]
rs10845198	0.82[JPT][hapmap]
rs11053877	1.00[JPT][hapmap]
rs11053880	1.00[JPT][hapmap]
rs11053881	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11053882	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12306757	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.98[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]
rs12811247	1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs1870194	0.94[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2125091	0.94[JPT][hapmap];0.95[YRI][hapmap]
rs2168749	0.85[ASW][hapmap]
rs2219382	0.81[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2290718	1.00[JPT][hapmap]
rs2305853	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs2418087	0.82[JPT][hapmap]
rs2418088	0.82[JPT][hapmap]
rs2900467	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2900513	0.82[JPT][hapmap]
rs3759264	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3759265	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3782674	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6488316	0.82[JPT][hapmap]
rs7312261	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7313620	0.81[JPT][hapmap]
rs7350557	0.82[JPT][hapmap]
rs7350597	0.82[JPT][hapmap]
rs755498	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7968284	0.82[JPT][hapmap]
rs7968819	0.93[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7971142	0.82[JPT][hapmap]
rs897880	0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs897882	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9988929	0.81[ASW][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10766600-10787000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:10766600-10789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10766600-10794400	Weak transcription	Gastric	stomach
4	chr12:10766800-10769600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:10766800-10770400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:10766800-10771400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:10766800-10789400	Weak transcription	Esophagus	oesophagus
8	chr12:10767000-10770400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:10767000-10770600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:10767000-10770600	Weak transcription	NHLF	lung
11	chr12:10767000-10772400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:10767000-10772400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:10767000-10778400	Weak transcription	Colonic Mucosa	Colon
14	chr12:10767200-10769200	Weak transcription	Liver	Liver
15	chr12:10767200-10769600	Weak transcription	NHDF-Ad	bronchial
16	chr12:10767200-10770200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:10767200-10770200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:10767200-10770200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:10767200-10770200	Weak transcription	HMEC	breast
20	chr12:10767200-10770200	Weak transcription	HSMMtube	muscle
21	chr12:10767200-10770400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:10767200-10770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:10767200-10770400	Weak transcription	A549	lung
24	chr12:10767200-10770400	Weak transcription	HUVEC	blood vessel
25	chr12:10767200-10770400	Weak transcription	K562	blood
26	chr12:10767200-10770400	Weak transcription	Osteobl	bone
27	chr12:10767200-10770600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:10767200-10770600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:10767200-10770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:10767200-10770600	Weak transcription	NH-A	brain
31	chr12:10767200-10770800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:10767200-10771200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:10767200-10772000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:10767200-10772200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:10767200-10775000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:10767200-10780600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:10767200-10781200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:10767400-10769000	Enhancers	NHEK	skin
39	chr12:10767400-10770000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:10767400-10770000	Weak transcription	HSMM	muscle
41	chr12:10767400-10772400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:10767600-10776800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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