Variant report

Variant	rs9293995
Chromosome Location	chr6:75813080-75813081
allele	C/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	MAFK	chr6:75812969-75813167	HepG2	liver:	n/a	chr6:75813087-75813098 chr6:75813083-75813098 chr6:75813088-75813099 chr6:75813087-75813098 chr6:75813088-75813099 chr6:75813086-75813100
2	MAFK	chr6:75813063-75813221	HepG2	liver:	n/a	chr6:75813087-75813098 chr6:75813083-75813098 chr6:75813088-75813099 chr6:75813087-75813098 chr6:75813088-75813099 chr6:75813086-75813100
3	CCNT2	chr6:75812915-75813204	K562	blood:	n/a	n/a
4	MAFK	chr6:75812969-75813179	IMR90	lung:	n/a	chr6:75813087-75813098 chr6:75813083-75813098 chr6:75813088-75813099 chr6:75813087-75813098 chr6:75813088-75813099 chr6:75813086-75813100

Variant related genes	Relation type
COL12A1	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10046165	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs10046211	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10223595	1.00[EUR][1000 genomes]
rs10943232	1.00[EUR][1000 genomes]
rs10943233	1.00[EUR][1000 genomes]
rs11964481	1.00[EUR][1000 genomes]
rs35227190	1.00[EUR][1000 genomes]
rs35710072	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36002196	1.00[EUR][1000 genomes]
rs4235892	1.00[EUR][1000 genomes]
rs4266465	1.00[EUR][1000 genomes]
rs4292495	1.00[EUR][1000 genomes]
rs4473827	1.00[EUR][1000 genomes]
rs56118316	1.00[EUR][1000 genomes]
rs56978570	1.00[EUR][1000 genomes]
rs58333285	1.00[EUR][1000 genomes]
rs61413320	1.00[EUR][1000 genomes]
rs61544138	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6453794	1.00[EUR][1000 genomes]
rs6453814	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6903588	1.00[EUR][1000 genomes]
rs6906046	0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs6907120	1.00[EUR][1000 genomes]
rs6909123	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs6911004	1.00[EUR][1000 genomes]
rs6920790	1.00[EUR][1000 genomes]
rs6921378	1.00[EUR][1000 genomes]
rs6931257	1.00[EUR][1000 genomes]
rs7754758	1.00[EUR][1000 genomes]
rs7766168	1.00[EUR][1000 genomes]
rs7772904	1.00[EUR][1000 genomes]
rs9293993	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs9293994	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs9293996	0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs9352183	1.00[EUR][1000 genomes]
rs9443130	1.00[EUR][1000 genomes]
rs9443133	1.00[EUR][1000 genomes]
rs9443135	1.00[EUR][1000 genomes]
rs9443151	1.00[EUR][1000 genomes]
rs9443152	1.00[EUR][1000 genomes]
rs9447409	1.00[EUR][1000 genomes]
rs9447441	1.00[EUR][1000 genomes]
rs9447443	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs9447444	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9447446	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs9447448	0.95[YRI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022377	chr6:75762463-75919592	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv538309	chr6:75762463-75919592	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830697	chr6:75763095-75915029	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75800400-75815600	Genic enhancers	Osteobl	bone
2	chr6:75802400-75813600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:75804600-75814400	Genic enhancers	NHLF	lung
4	chr6:75806600-75818600	Strong transcription	NHEK	skin
5	chr6:75806800-75814000	Genic enhancers	NHDF-Ad	bronchial
6	chr6:75806800-75816000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:75808400-75826000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:75808800-75818200	Weak transcription	Aorta	Aorta
9	chr6:75809000-75819600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:75809000-75824600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:75809200-75815000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:75809400-75816800	Strong transcription	HMEC	breast
13	chr6:75809600-75813600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr6:75809600-75815400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:75809600-75828200	Weak transcription	Hela-S3	cervix
16	chr6:75809600-75862000	Weak transcription	Fetal Kidney	kidney
17	chr6:75809800-75813200	Strong transcription	Fetal Stomach	stomach
18	chr6:75809800-75814600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:75809800-75816600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:75809800-75818600	Strong transcription	HSMMtube	muscle
21	chr6:75810000-75844400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:75810200-75813400	Strong transcription	Fetal Muscle Leg	muscle
23	chr6:75810200-75815800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:75810200-75816400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:75811200-75814600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:75811200-75816200	Strong transcription	Colon Smooth Muscle	Colon
27	chr6:75811400-75813600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:75811600-75813200	Genic enhancers	Placenta Amnion	Placenta Amnion
29	chr6:75812000-75813200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:75812400-75814400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:75812400-75816400	Strong transcription	Ovary	ovary
32	chr6:75812400-75819200	Strong transcription	HSMM	muscle
33	chr6:75812600-75835800	Weak transcription	HUVEC	blood vessel
34	chr6:75812800-75813200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:75812800-75813200	Genic enhancers	NH-A	brain
36	chr6:75812800-75813600	Genic enhancers	Fetal Intestine Large	intestine
37	chr6:75813000-75813200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:75813000-75813200	Genic enhancers	Adipose Nuclei	Adipose
39	chr6:75813000-75813200	Genic enhancers	Fetal Intestine Small	intestine
40	chr6:75813000-75816400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr6:75813000-75866200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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