Variant report

Variant	rs7759268
Chromosome Location	chr6:142733550-142733551
allele	A/G/T
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	chr6:142732978-142733628	A549	lung:	n/a	n/a
2	CCNT2	chr6:142733481-142733629	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142733339..142736237-chr6:142747446..142749492,2	MCF-7	breast:
2	chr6:142723359..142725425-chr6:142732733..142734946,2	MCF-7	breast:

Variant related genes	Relation type
GPR126	TF binding region
ENSG00000112414	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1013902	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17071798	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2064314	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2143390	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2223616	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2294765	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294768	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2294770	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2294772	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294773	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294774	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34701089	0.90[EUR][1000 genomes]
rs41289839	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4140531	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6570512	0.94[CHB][hapmap];0.87[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6913116	0.88[CEU][hapmap];0.81[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7758750	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9321865	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9321871	0.86[EUR][1000 genomes]
rs9373343	0.88[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9373345	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9376687	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9376689	0.88[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9385993	0.82[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9385994	0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9389988	0.82[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9389990	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9403379	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9403384	0.81[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9484645	0.90[EUR][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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142708000-142734800	Weak transcription	Esophagus	oesophagus
2	chr6:142712200-142735000	Weak transcription	Fetal Brain Male	brain
3	chr6:142718000-142763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:142719800-142735400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:142720600-142736800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:142721600-142749200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:142722000-142743400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:142722200-142734200	Weak transcription	Hela-S3	cervix
9	chr6:142726200-142736000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:142726600-142737400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:142726800-142738000	Weak transcription	Stomach Mucosa	stomach
12	chr6:142727000-142743400	Strong transcription	HepG2	liver
13	chr6:142728400-142736800	Weak transcription	Fetal Intestine Large	intestine
14	chr6:142728800-142733600	Weak transcription	HSMMtube	muscle
15	chr6:142729200-142743200	Strong transcription	Liver	Liver
16	chr6:142730200-142747600	Weak transcription	Fetal Intestine Small	intestine
17	chr6:142730400-142738200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:142731200-142733600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:142731200-142737000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:142731400-142733600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:142731600-142733800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:142731600-142734800	Weak transcription	Placenta	Placenta
23	chr6:142731600-142737600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:142731800-142734000	Genic enhancers	HUVEC	blood vessel
25	chr6:142732600-142734800	Weak transcription	Fetal Lung	lung
26	chr6:142732600-142737000	Weak transcription	Primary T cells from cord blood	blood
27	chr6:142732800-142734800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:142733000-142733800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:142733000-142733800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:142733000-142734200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:142733000-142738600	Enhancers	NHDF-Ad	bronchial
32	chr6:142733200-142733600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:142733200-142733600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:142733200-142733600	Genic enhancers	HMEC	breast
35	chr6:142733200-142733800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr6:142733200-142733800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr6:142733200-142734200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:142733200-142734400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:142733200-142735800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr6:142733200-142735800	Enhancers	NHEK	skin
41	chr6:142733200-142736000	Enhancers	NHLF	lung
42	chr6:142733400-142733600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:142733400-142734000	Flanking Active TSS	A549	lung
44	chr6:142733400-142734000	Genic enhancers	HSMM	muscle
45	chr6:142733400-142735200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:142733400-142735400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:142733400-142735800	Enhancers	NH-A	brain
48	chr6:142733400-142737600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:142733400-142739200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:142733400-142739200	Enhancers	Osteobl	bone

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