Variant report

Variant	rs9472678
Chromosome Location	chr6:46012706-46012707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:46010679..46013436-chr6:46019220..46021505,2	K562	blood:
2	chr6:46002982..46005578-chr6:46009037..46013212,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16874143	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16874161	0.91[CEU][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17461934	0.91[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6921518	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6930769	0.91[CEU][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6940735	0.91[CEU][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73448968	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7739464	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7773334	0.91[CEU][hapmap];0.82[YRI][hapmap]
rs9463168	0.91[CEU][hapmap];0.83[YRI][hapmap]
rs9472669	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs9472670	0.91[CEU][hapmap]
rs9472673	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.95[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	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1025846	chr6:45955173-46047269	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:46006200-46016400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:46009800-46013800	Enhancers	HUVEC	blood vessel
3	chr6:46010200-46013000	Enhancers	Left Ventricle	heart
4	chr6:46010400-46015200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:46010600-46013400	Enhancers	Adipose Nuclei	Adipose
6	chr6:46010600-46014400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:46010600-46014800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr6:46010600-46015000	Enhancers	Psoas Muscle	Psoas
9	chr6:46010600-46015200	Enhancers	Fetal Heart	heart
10	chr6:46010600-46016200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:46010800-46016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:46011400-46012800	Enhancers	Right Ventricle	heart
13	chr6:46011400-46014000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:46011800-46013000	Enhancers	Hela-S3	cervix
15	chr6:46011800-46020200	Weak transcription	Lung	lung
16	chr6:46012000-46013000	Enhancers	HSMM	muscle
17	chr6:46012000-46013000	Enhancers	NHLF	lung
18	chr6:46012200-46013000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:46012200-46013000	Enhancers	Placenta	Placenta
20	chr6:46012200-46014000	Enhancers	NHDF-Ad	bronchial
21	chr6:46012400-46012800	Enhancers	Osteobl	bone
22	chr6:46012400-46013000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:46012400-46013000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:46012400-46013000	Enhancers	HMEC	breast
25	chr6:46012400-46013000	Enhancers	HSMMtube	muscle
26	chr6:46012400-46013200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:46012400-46013200	Weak transcription	Fetal Intestine Large	intestine
28	chr6:46012600-46012800	Enhancers	Duodenum Mucosa	Duodenum
29	chr6:46012600-46013000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:46012600-46013000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:46012600-46013000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr6:46012600-46013000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:46012600-46013000	Enhancers	NHEK	skin
34	chr6:46012600-46013200	Enhancers	NH-A	brain
35	chr6:46012600-46013400	Enhancers	Fetal Intestine Small	intestine
36	chr6:46012600-46013400	Enhancers	Right Atrium	heart
37	chr6:46012600-46014200	Enhancers	Sigmoid Colon	Sigmoid Colon

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