Variant report

Variant	rs12914502
Chromosome Location	chr15:52911335-52911336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52909963..52913999-chr15:52916519..52920050,4	MCF-7	breast:
2	chr15:52911044..52913155-chr15:52914885..52916943,2	K562	blood:
3	chr15:52908250..52909787-chr15:52911134..52913662,2	K562	blood:
4	chr15:52911171..52913383-chr15:52919987..52922783,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1080731	1.00[CHB][hapmap]
rs10851521	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11070907	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11070908	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070909	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11633933	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11853917	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11855616	0.90[CHB][hapmap]
rs11857150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11858743	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12232257	0.84[JPT][hapmap]
rs12898644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12902679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs12914047	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12915981	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13329393	0.90[CHB][hapmap]
rs17614559	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs1863512	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2288271	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2414160	0.90[CHB][hapmap]
rs2414161	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2414163	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2414166	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2414167	1.00[CHB][hapmap]
rs34431049	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3751614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4390542	1.00[CHB][hapmap]
rs4548810	0.95[CEU][hapmap];0.89[CHB][hapmap]
rs4774634	0.95[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap]
rs4774636	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4776058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4776063	0.90[CHB][hapmap]
rs4776065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4776066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4776068	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62023352	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7167494	0.90[CHB][hapmap]
rs8026800	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8030141	0.89[CHB][hapmap]
rs933860	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1047775	chr15:52822050-52912228	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv457140	chr15:52901433-52968746	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1049534	chr15:52903314-53022926	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12914502	KIAA1370	cis	normal skin	skin_eQTL
rs12914502	KIAA1370	cis	uninvolved skin	skin_eQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52861200-52925200	Weak transcription	Stomach Mucosa	stomach
2	chr15:52861800-52934800	Weak transcription	Right Ventricle	heart
3	chr15:52869400-52945400	Weak transcription	Small Intestine	intestine
4	chr15:52871800-52967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:52872200-52933800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:52872600-52920800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:52873400-52928000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:52874200-52917000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr15:52874800-52944200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:52875400-52916200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:52882200-52920000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:52882400-52926000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr15:52885600-52945200	Weak transcription	Spleen	Spleen
14	chr15:52891400-52927600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:52899000-52920400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:52899600-52917000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:52899600-52944400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr15:52900400-52911800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr15:52900600-52944000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr15:52900800-52945200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr15:52902200-52943800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:52902400-52914200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:52902400-52916400	Weak transcription	Brain Hippocampus Middle	brain
24	chr15:52902400-52925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:52902400-52934800	Weak transcription	NH-A	brain
26	chr15:52902600-52914000	Weak transcription	Lung	lung
27	chr15:52902600-52915800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:52902600-52916400	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:52902600-52927400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:52902600-52942000	Weak transcription	HUVEC	blood vessel
31	chr15:52902800-52916400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:52903400-52925400	Weak transcription	Brain Germinal Matrix	brain
33	chr15:52903400-52933800	Weak transcription	Fetal Heart	heart
34	chr15:52903400-52943800	Weak transcription	Hela-S3	cervix
35	chr15:52903400-52944000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:52903600-52942400	Weak transcription	Dnd41	blood
37	chr15:52903600-52945400	Weak transcription	Colonic Mucosa	Colon
38	chr15:52904000-52914600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:52904000-52922800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr15:52904000-52934400	Weak transcription	Fetal Brain Male	brain
41	chr15:52904000-52943400	Weak transcription	Fetal Kidney	kidney
42	chr15:52904000-52945400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:52904000-52956800	Weak transcription	Esophagus	oesophagus
44	chr15:52904800-52928400	Weak transcription	Osteobl	bone
45	chr15:52905200-52915400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:52906000-52912200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:52906000-52912400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:52906000-52915400	Weak transcription	Brain Substantia Nigra	brain
49	chr15:52906000-52915800	Weak transcription	Fetal Brain Female	brain
50	chr15:52906200-52912000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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