Variant report

Variant	rs12903317
Chromosome Location	chr15:51243983-51243984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51242549..51245131-chr15:51257817..51260638,2	MCF-7	breast:
2	chr15:51240708..51242711-chr15:51242889..51245874,2	K562	blood:
3	chr15:51243593..51246491-chr15:51256296..51259050,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10519289	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11070825	0.80[ASN][1000 genomes]
rs11634895	0.85[ASN][1000 genomes]
rs11639007	0.83[ASN][1000 genomes]
rs11639350	0.86[ASN][1000 genomes]
rs11853182	0.90[ASN][1000 genomes]
rs11854585	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11854729	0.82[ASN][1000 genomes]
rs11856609	0.90[ASN][1000 genomes]
rs11857981	0.82[ASN][1000 genomes]
rs12899397	0.85[ASN][1000 genomes]
rs12899586	0.85[ASN][1000 genomes]
rs12900916	0.85[ASN][1000 genomes]
rs12900973	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901608	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12907367	0.82[ASN][1000 genomes]
rs12910854	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12911715	0.85[ASN][1000 genomes]
rs12913094	0.85[ASN][1000 genomes]
rs12916255	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16953045	0.82[ASN][1000 genomes]
rs16953046	0.85[ASN][1000 genomes]
rs17521467	0.85[ASN][1000 genomes]
rs17521789	0.82[ASN][1000 genomes]
rs17521919	0.82[ASN][1000 genomes]
rs17599863	0.85[ASN][1000 genomes]
rs17599974	0.85[ASN][1000 genomes]
rs1904432	0.82[ASN][1000 genomes]
rs2306329	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306333	0.85[ASN][1000 genomes]
rs28366661	0.80[ASN][1000 genomes]
rs28430533	0.82[ASN][1000 genomes]
rs28642856	0.83[ASN][1000 genomes]
rs34590712	0.88[ASN][1000 genomes]
rs34810611	0.88[ASN][1000 genomes]
rs35416047	0.82[ASN][1000 genomes]
rs35684604	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35827195	0.90[ASN][1000 genomes]
rs3759806	0.85[ASN][1000 genomes]
rs3816717	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58661036	0.85[ASN][1000 genomes]
rs6493470	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71471523	0.83[ASN][1000 genomes]
rs71471583	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71471584	0.82[ASN][1000 genomes]
rs71471585	0.82[ASN][1000 genomes]
rs71471587	0.80[ASN][1000 genomes]
rs7162562	0.92[ASN][1000 genomes]
rs7165920	0.85[ASN][1000 genomes]
rs7170570	0.88[ASN][1000 genomes]
rs7175024	0.80[ASN][1000 genomes]
rs7179321	0.85[ASN][1000 genomes]
rs7181081	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8026140	0.85[ASN][1000 genomes]
rs8032236	0.85[ASN][1000 genomes]
rs8032550	0.82[ASN][1000 genomes]
rs8032866	0.82[ASN][1000 genomes]
rs8034812	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8036604	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652426	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51201600-51245000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:51201800-51248400	Weak transcription	Colonic Mucosa	Colon
3	chr15:51201800-51271600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:51205800-51249000	Weak transcription	Fetal Brain Male	brain
5	chr15:51205800-51254400	Weak transcription	Fetal Heart	heart
6	chr15:51208000-51250400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr15:51210600-51298400	Weak transcription	Stomach Mucosa	stomach
8	chr15:51213200-51245400	Weak transcription	Psoas Muscle	Psoas
9	chr15:51213800-51247600	Weak transcription	Aorta	Aorta
10	chr15:51214600-51247800	Weak transcription	Esophagus	oesophagus
11	chr15:51231000-51247800	Weak transcription	Spleen	Spleen
12	chr15:51232400-51250400	Weak transcription	HepG2	liver
13	chr15:51232800-51254000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:51233200-51245000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:51233800-51254200	Strong transcription	Placenta	Placenta
16	chr15:51235200-51263800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:51237400-51245000	Weak transcription	GM12878-XiMat	blood
18	chr15:51237400-51245600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:51237400-51246000	Weak transcription	NHLF	lung
20	chr15:51237400-51247600	Weak transcription	K562	blood
21	chr15:51237400-51249600	Weak transcription	Small Intestine	intestine
22	chr15:51239600-51253000	Strong transcription	Primary T cells from cord blood	blood
23	chr15:51239800-51244400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:51239800-51247800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:51240000-51245400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:51240200-51247800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr15:51240200-51251600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:51240400-51248200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr15:51240600-51244000	Strong transcription	Primary B cells from cord blood	blood
30	chr15:51241000-51251600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:51241200-51252800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr15:51241400-51251800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr15:51241800-51244000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:51241800-51244400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr15:51241800-51245000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:51241800-51245400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:51241800-51245800	Strong transcription	Hela-S3	cervix
38	chr15:51241800-51246400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:51241800-51246600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr15:51241800-51246600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:51241800-51252400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:51241800-51253200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:51241800-51253800	Strong transcription	Adipose Nuclei	Adipose
44	chr15:51242000-51244000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr15:51242000-51246200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr15:51242000-51249000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr15:51242000-51253400	Strong transcription	Liver	Liver
48	chr15:51242200-51244400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:51242200-51246000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:51242200-51249000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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