Variant report

Variant	rs1475035
Chromosome Location	chr14:69338224-69338225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:69337874-69340569	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:69338018-69339127	A549	lung:	n/a	n/a
3	POLR2A	chr14:69338207-69338459	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr14:69338206-69338396	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:69338205-69338483	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:69338189-69338638	HepG2	liver:	n/a	n/a
7	FOSL2	chr14:69338142-69338532	HepG2	liver:	n/a	chr14:69338521-69338532

Variant related genes	Relation type
BLZF2P	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10139065	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10139069	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10151103	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1274939	0.83[ASN][1000 genomes]
rs1274940	0.82[ASN][1000 genomes]
rs1274941	0.82[ASN][1000 genomes]
rs1274942	0.82[ASN][1000 genomes]
rs1274943	0.82[ASN][1000 genomes]
rs1274944	0.82[ASN][1000 genomes]
rs1475034	1.00[ASW][hapmap];0.85[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1742493	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1742494	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1742495	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1742496	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1742498	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1742499	0.86[ASN][1000 genomes]
rs1742500	0.86[ASN][1000 genomes]
rs1742886	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1742890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393673	0.86[ASN][1000 genomes]
rs412638	0.86[ASN][1000 genomes]
rs41285480	0.88[ASN][1000 genomes]
rs424806	0.86[ASN][1000 genomes]
rs4312253	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs435205	0.86[ASN][1000 genomes]
rs440689	0.86[ASN][1000 genomes]
rs441983	0.85[ASN][1000 genomes]
rs445323	0.86[ASN][1000 genomes]
rs445863	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs453964	0.86[ASN][1000 genomes]
rs4902661	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902662	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987505	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149334	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149376	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149938	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149956	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7401911	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9788535	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1475035	KIAA0247	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69310800-69339800	Weak transcription	Right Ventricle	heart
2	chr14:69324800-69338600	Weak transcription	HepG2	liver
3	chr14:69330000-69338400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:69330000-69351000	Weak transcription	Fetal Heart	heart
5	chr14:69330200-69348200	Weak transcription	K562	blood
6	chr14:69331200-69350800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:69331400-69344600	Weak transcription	Brain Angular Gyrus	brain
8	chr14:69332800-69338600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr14:69333000-69338400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:69334000-69349600	Weak transcription	Fetal Kidney	kidney
11	chr14:69334000-69350800	Strong transcription	NH-A	brain
12	chr14:69334200-69346400	Weak transcription	Stomach Mucosa	stomach
13	chr14:69335800-69338600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:69336000-69338600	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:69336200-69338400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:69336200-69338400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:69336200-69341400	Weak transcription	Brain Germinal Matrix	brain
18	chr14:69336200-69349600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:69336200-69350800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:69336200-69351200	Strong transcription	HSMM	muscle
21	chr14:69336400-69338400	Weak transcription	Thymus	Thymus
22	chr14:69336400-69338600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:69336400-69339400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:69336400-69339400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:69336400-69341400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:69336400-69341600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:69336400-69350800	Strong transcription	NHLF	lung
28	chr14:69336400-69350800	Strong transcription	Osteobl	bone
29	chr14:69336400-69358800	Strong transcription	HSMMtube	muscle
30	chr14:69336400-69364200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:69336400-69378200	Strong transcription	Primary T cells from cord blood	blood
32	chr14:69336600-69338600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:69336600-69338800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:69336600-69348000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:69336600-69350600	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr14:69336600-69351000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:69336600-69351000	Strong transcription	Adipose Nuclei	Adipose
38	chr14:69336600-69358600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:69336800-69341200	Weak transcription	Fetal Brain Female	brain
40	chr14:69336800-69343800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:69336800-69360400	Weak transcription	Right Atrium	heart
42	chr14:69337000-69338600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:69337000-69339200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr14:69337000-69343200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr14:69337200-69338600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:69337200-69342400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr14:69337400-69341400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:69337400-69341400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:69337400-69341400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr14:69337400-69348000	Weak transcription	Brain Substantia Nigra	brain

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