Variant report

Variant	rs12907367
Chromosome Location	chr15:51265986-51265987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:51265611..51268548-chr15:51273285..51275187,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10519289	0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs11070825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11634895	0.88[JPT][hapmap]
rs11636974	0.93[JPT][hapmap]
rs11854585	0.85[ASN][1000 genomes]
rs11854729	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856129	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11857981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12324583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12898402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12899397	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12899586	0.94[JPT][hapmap]
rs12900973	0.82[ASN][1000 genomes]
rs12901608	0.86[ASN][1000 genomes]
rs12901860	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12902050	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12902196	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12903317	0.82[ASN][1000 genomes]
rs12904155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12906205	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12906278	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12909780	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12911270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12913094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12916255	0.94[JPT][hapmap]
rs12916334	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1438926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16953045	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]
rs16964048	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs17521467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17521789	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17521919	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17599974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1904432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1912097	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2083254	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2278559	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2306329	0.82[ASN][1000 genomes]
rs2306333	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28366661	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28430533	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28642856	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34874493	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35114758	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35134521	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35416047	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35439349	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35655196	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35684604	0.85[ASN][1000 genomes]
rs3759806	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3816717	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs3825799	0.94[JPT][hapmap]
rs3848133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3848134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4134038	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58661036	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493470	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs71426066	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71471522	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71471523	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71471583	0.82[ASN][1000 genomes]
rs71471584	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71471585	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71471587	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7162325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7162562	0.81[ASN][1000 genomes]
rs7162631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7165920	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7166073	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7166600	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7170009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7170937	0.93[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap]
rs7175024	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7179321	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7179865	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7181081	0.83[ASN][1000 genomes]
rs8026140	0.88[JPT][hapmap]
rs8032236	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8032550	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8032866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8033085	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8033351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8034718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8034812	0.85[ASN][1000 genomes]
rs8036604	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs8040954	0.82[JPT][hapmap]
rs9302158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9806654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv529339	chr15:51048579-51270372	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	nsv428636	chr15:51154834-51298044	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv569403	chr15:51191421-51304373	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1038778	chr15:51196641-51356728	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv569404	chr15:51234595-51294995	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1049644	chr15:51265447-51560445	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51201800-51271600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:51210600-51298400	Weak transcription	Stomach Mucosa	stomach
3	chr15:51243800-51283000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:51252400-51283800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:51257600-51272800	Weak transcription	Pancreas	Pancrea
6	chr15:51259800-51267000	Strong transcription	Placenta	Placenta
7	chr15:51260400-51267000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:51260600-51268400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:51260800-51268000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:51261000-51269200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:51261200-51268200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr15:51261400-51266200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr15:51261600-51272800	Weak transcription	Colonic Mucosa	Colon
14	chr15:51261600-51295600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:51261600-51298200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr15:51262200-51266000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
17	chr15:51262200-51267000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
18	chr15:51263000-51304800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:51263200-51266000	Weak transcription	Hela-S3	cervix
20	chr15:51263200-51276000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:51263400-51281000	Weak transcription	Fetal Heart	heart
22	chr15:51263600-51266400	Weak transcription	HSMMtube	muscle
23	chr15:51263600-51267400	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr15:51263600-51268000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:51263600-51287200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:51263600-51293600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:51263600-51296400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:51263600-51297800	Weak transcription	NHLF	lung
29	chr15:51263600-51299200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:51263600-51300200	Weak transcription	Small Intestine	intestine
31	chr15:51263600-51301200	Weak transcription	HepG2	liver
32	chr15:51263600-51303000	Weak transcription	HUVEC	blood vessel
33	chr15:51263800-51266800	Weak transcription	Fetal Kidney	kidney
34	chr15:51263800-51269400	Weak transcription	Psoas Muscle	Psoas
35	chr15:51263800-51272600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:51263800-51275400	Weak transcription	NH-A	brain
37	chr15:51263800-51296200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:51263800-51296600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:51263800-51300400	Weak transcription	Right Ventricle	heart
40	chr15:51264200-51267000	Strong transcription	Primary T cells from cord blood	blood
41	chr15:51264400-51266800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:51264400-51267000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr15:51264400-51267000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr15:51264400-51267000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr15:51264400-51267200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:51264400-51267400	Strong transcription	Liver	Liver
47	chr15:51264400-51267800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:51264400-51269400	Weak transcription	Colon Smooth Muscle	Colon
49	chr15:51264400-51271000	Weak transcription	Osteobl	bone
50	chr15:51264400-51283200	Weak transcription	Brain Substantia Nigra	brain

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