Variant report

Variant	rs2436928
Chromosome Location	chr8:103611260-103611261
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103605858..103620203-chr8:103816083..103827169,111	MCF-7	breast:
2	chr11:65188907..65191280-chr8:103610894..103613033,2	MCF-7	breast:
3	chr8:103611028..103613116-chr8:103635712..103638657,2	K562	blood:
4	chr8:103610682..103613281-chr8:103617723..103620341,2	K562	blood:
5	chr8:103610633..103618537-chr8:103662081..103669570,24	MCF-7	breast:
6	chr8:103610502..103616206-chr8:103792660..103796842,13	MCF-7	breast:
7	chr8:103611190..103612835-chr8:103749951..103752657,2	MCF-7	breast:
8	chr8:103611183..103613432-chr8:103875344..103878248,3	MCF-7	breast:
9	chr8:103610542..103615201-chr8:103799392..103803025,12	MCF-7	breast:
10	chr8:103508127..103509700-chr8:103610459..103612594,2	MCF-7	breast:
11	chr8:103422529..103425503-chr8:103610947..103614616,5	MCF-7	breast:
12	chr8:103606751..103617128-chr8:103816392..103825354,41	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2436951	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2436952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2436955	0.83[ASN][1000 genomes]
rs2436956	0.83[ASN][1000 genomes]
rs2436957	0.83[ASN][1000 genomes]
rs2436958	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2436959	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2436960	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2436963	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2436964	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs2436965	0.83[ASN][1000 genomes]
rs2436967	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[ASN][1000 genomes]
rs2436969	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2511656	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2511659	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2511661	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2511663	0.83[ASN][1000 genomes]
rs2511666	0.85[ASN][1000 genomes]
rs2511722	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs66485119	0.83[ASN][1000 genomes]
rs6981411	0.93[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs873780	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103596600-103612600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:103598400-103612400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:103598800-103611800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:103603400-103612200	Weak transcription	Right Ventricle	heart
5	chr8:103603800-103613000	Weak transcription	Right Atrium	heart
6	chr8:103605200-103612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:103609200-103612400	Weak transcription	Psoas Muscle	Psoas
8	chr8:103609600-103611400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:103609600-103611600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:103609800-103612800	Enhancers	K562	blood
11	chr8:103610400-103612600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:103610800-103612200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:103611000-103612400	Weak transcription	Ovary	ovary
14	chr8:103611000-103612800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:103611000-103612800	Weak transcription	Osteobl	bone
16	chr8:103611000-103613000	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:103611200-103611400	Enhancers	Rectal Smooth Muscle	rectum

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