Variant report

Variant	rs1003470
Chromosome Location	chr19:36602729-36602730
allele	C/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	chr19:36602718-36602873	K562	blood:	n/a	n/a
2	POLR2A	chr19:36596983-36603152	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:36602349-36602841	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36601521..36604291-chr19:36630338..36633807,8	MCF-7	breast:
2	chr19:36601583..36604210-chr19:36609754..36611847,2	MCF-7	breast:

Variant related genes	Relation type
OVOL3	TF binding region
TBCB	TF binding region
ENSG00000105254	Chromatin interaction
ENSG00000126247	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10420353	0.86[YRI][hapmap]
rs10421966	0.91[YRI][hapmap]
rs10853945	0.99[ASN][1000 genomes]
rs12462674	0.87[YRI][hapmap]
rs12980591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12982375	0.98[ASN][1000 genomes]
rs1548505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1548506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1972511	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1985404	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2023865	0.87[YRI][hapmap]
rs2051800	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2072605	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2239510	0.83[YRI][hapmap]
rs2285745	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2301736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2311004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3746271	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3826995	0.87[YRI][hapmap]
rs4461192	0.86[YRI][hapmap]
rs4805160	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4806265	0.89[ASN][1000 genomes]
rs4806269	0.94[ASN][1000 genomes]
rs4806270	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6510519	0.86[ASN][1000 genomes]
rs7246292	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8103569	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36546600-36604800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:36574600-36604400	Weak transcription	NHDF-Ad	bronchial
3	chr19:36575400-36604200	Weak transcription	Primary B cells from cord blood	blood
4	chr19:36585200-36604400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:36588400-36604800	Weak transcription	NH-A	brain
6	chr19:36590200-36604600	Strong transcription	Fetal Intestine Small	intestine
7	chr19:36590400-36605000	Weak transcription	Aorta	Aorta
8	chr19:36590600-36604800	Weak transcription	Psoas Muscle	Psoas
9	chr19:36592400-36604800	Weak transcription	Right Atrium	heart
10	chr19:36593400-36603400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:36594000-36603400	Weak transcription	Hela-S3	cervix
12	chr19:36594800-36603600	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:36594800-36604400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:36595000-36603600	Weak transcription	HepG2	liver
15	chr19:36595600-36603400	Weak transcription	Brain Angular Gyrus	brain
16	chr19:36595600-36603400	Weak transcription	HSMM	muscle
17	chr19:36595600-36603400	Weak transcription	HUVEC	blood vessel
18	chr19:36595600-36604000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr19:36595800-36604000	Weak transcription	HMEC	breast
20	chr19:36596200-36603400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:36596200-36603800	Weak transcription	GM12878-XiMat	blood
22	chr19:36596200-36604000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:36596400-36603600	Weak transcription	Osteobl	bone
24	chr19:36596600-36603400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:36596600-36603800	Weak transcription	K562	blood
26	chr19:36597600-36602800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr19:36597600-36603400	Weak transcription	Right Ventricle	heart
28	chr19:36597600-36603400	Weak transcription	Dnd41	blood
29	chr19:36597600-36604600	Weak transcription	HSMMtube	muscle
30	chr19:36598000-36603400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr19:36598200-36603600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr19:36598200-36604000	Weak transcription	Fetal Brain Male	brain
33	chr19:36599400-36603800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr19:36600200-36603800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:36600200-36604400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr19:36600800-36604400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr19:36601000-36604000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:36601200-36604000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr19:36601400-36602800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr19:36601400-36602800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr19:36601400-36603200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:36601400-36603800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr19:36601400-36603800	Strong transcription	Brain Germinal Matrix	brain
44	chr19:36601400-36604000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:36601400-36604000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:36601400-36604200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr19:36601400-36604200	Strong transcription	Fetal Stomach	stomach
48	chr19:36601400-36604200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr19:36601400-36604400	Strong transcription	Liver	Liver
50	chr19:36601400-36604600	Weak transcription	Stomach Mucosa	stomach

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