Variant report

Variant	rs6679701
Chromosome Location	chr1:150854767-150854768
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	MAZ	chr1:150853851-150854775	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150846965..150851829-chr1:150851958..150856513,6	MCF-7	breast:
2	chr1:150539815..150542556-chr1:150853753..150855583,2	K562	blood:
3	chr1:150848386..150850942-chr1:150853921..150858032,4	K562	blood:
4	chr1:150847931..150851587-chr1:150853004..150856091,6	K562	blood:

Variant related genes	Relation type
ENSG00000224800	TF binding region
ENSG00000143437	Chromatin interaction
ENSG00000264584	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10305695	1.00[MKK][hapmap]
rs10788795	0.83[EUR][1000 genomes]
rs10888396	0.87[EUR][1000 genomes]
rs11204714	0.80[EUR][1000 genomes]
rs11204715	0.80[EUR][1000 genomes]
rs11204727	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs11576175	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs11579289	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12040707	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12042263	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12728254	0.91[EUR][1000 genomes]
rs16832604	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs16840074	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2134688	0.92[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2305812	0.93[CHB][hapmap];0.93[CHD][hapmap]
rs2305815	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs267736	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs34090972	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3738483	0.92[CEU][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3754210	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs3768017	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3820541	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3820543	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4379678	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs533928	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61817600	0.83[EUR][1000 genomes]
rs61817649	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6661100	0.83[EUR][1000 genomes]
rs6671489	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6671703	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6688248	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6692277	0.83[EUR][1000 genomes]
rs6696167	0.83[EUR][1000 genomes]
rs72704624	0.83[EUR][1000 genomes]
rs72706512	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7517566	0.92[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7521445	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7529204	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7535848	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7535975	0.80[EUR][1000 genomes]
rs771204	1.00[CHB][hapmap];0.96[CHD][hapmap]
rs771205	0.93[CHB][hapmap];0.89[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv2810	chr1:150835173-150879869	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150850000-150855200	Weak transcription	GM12878-XiMat	blood
2	chr1:150851800-150855200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:150853400-150854800	Enhancers	Hela-S3	cervix
4	chr1:150853800-150855200	Enhancers	Liver	Liver
5	chr1:150854000-150855000	Weak transcription	Placenta	Placenta
6	chr1:150854000-150855200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:150854000-150855600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:150854000-150862200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:150854200-150855000	Weak transcription	NHDF-Ad	bronchial
10	chr1:150854200-150855200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:150854200-150855200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:150854200-150855200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:150854200-150855200	Enhancers	Osteobl	bone
14	chr1:150854200-150856400	Weak transcription	NHLF	lung
15	chr1:150854200-150856600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:150854600-150854800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:150854600-150855200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:150854600-150855600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:150854600-150855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:150854600-150859600	Weak transcription	HMEC	breast
21	chr1:150854600-150862600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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