Variant report

Variant	rs370535
Chromosome Location	chr14:69331065-69331066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69329871..69332801-chr14:69360773..69363561,2	MCF-7	breast:
2	chr14:69329812..69331555-chr14:69556654..69558817,2	MCF-7	breast:
3	chr14:69328564..69331067-chr14:69432444..69435410,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10130940	1.00[JPT][hapmap]
rs10136833	1.00[JPT][hapmap]
rs10139706	1.00[JPT][hapmap]
rs10142141	1.00[JPT][hapmap]
rs10147437	1.00[JPT][hapmap]
rs10147838	1.00[JPT][hapmap]
rs10149281	1.00[JPT][hapmap]
rs10151706	1.00[JPT][hapmap]
rs12101054	0.85[JPT][hapmap]
rs12434957	1.00[JPT][hapmap]
rs1274949	0.86[ASN][1000 genomes]
rs1475034	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17106429	1.00[ASN][1000 genomes]
rs1742501	0.83[ASN][1000 genomes]
rs181475	0.87[ASN][1000 genomes]
rs194718	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2093009	0.87[ASN][1000 genomes]
rs2093010	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs2273419	1.00[CHD][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs372177	0.86[ASN][1000 genomes]
rs372522	0.83[ASN][1000 genomes]
rs372896	0.86[ASN][1000 genomes]
rs397282	0.86[ASN][1000 genomes]
rs41285482	0.97[ASN][1000 genomes]
rs435205	0.80[EUR][1000 genomes]
rs7145390	0.90[ASN][1000 genomes]
rs743127	0.85[JPT][hapmap]

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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902073	chr14:69288432-69331065	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv518793	chr14:69329149-69331653	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs370535	KIAA0247	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69306400-69331200	Weak transcription	Aorta	Aorta
2	chr14:69310800-69332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:69310800-69332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:69310800-69336400	Weak transcription	NHLF	lung
5	chr14:69310800-69339800	Weak transcription	Right Ventricle	heart
6	chr14:69312000-69332000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:69320600-69334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:69320800-69332200	Weak transcription	NHEK	skin
9	chr14:69321200-69332200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:69321200-69338000	Weak transcription	Gastric	stomach
11	chr14:69322400-69336600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:69322600-69331200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:69323400-69331200	Weak transcription	Fetal Stomach	stomach
14	chr14:69323800-69337800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:69324800-69338600	Weak transcription	HepG2	liver
16	chr14:69325000-69331200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr14:69327600-69332200	Weak transcription	Liver	Liver
18	chr14:69328000-69334000	Weak transcription	NH-A	brain
19	chr14:69328200-69336600	Weak transcription	HMEC	breast
20	chr14:69328600-69331200	Weak transcription	Osteobl	bone
21	chr14:69328800-69336200	Weak transcription	HSMM	muscle
22	chr14:69329600-69332400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:69329600-69338200	Weak transcription	Pancreas	Pancrea
24	chr14:69329800-69331600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:69330000-69332000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:69330000-69332200	Weak transcription	A549	lung
27	chr14:69330000-69338400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:69330000-69351000	Weak transcription	Fetal Heart	heart
29	chr14:69330200-69332400	Weak transcription	HUVEC	blood vessel
30	chr14:69330200-69338000	Weak transcription	Hela-S3	cervix
31	chr14:69330200-69338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:69330200-69348200	Weak transcription	K562	blood
33	chr14:69330800-69331200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:69330800-69331200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:69330800-69331200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:69330800-69332000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:69331000-69331200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:69331000-69331400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:69331000-69332000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:69331000-69332200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:69331000-69332400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:69331000-69332400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:69331000-69332800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:69331000-69332800	Strong transcription	HSMMtube	muscle

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