Variant report

Variant	rs10093912
Chromosome Location	chr8:8762040-8762041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8749232..8754669-chr8:8756372..8762618,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147324	Chromatin interaction
ENSG00000200713	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10046647	0.96[ASN][1000 genomes]
rs10046695	0.96[ASN][1000 genomes]
rs10046734	0.96[ASN][1000 genomes]
rs10046767	0.96[ASN][1000 genomes]
rs10087078	1.00[CHB][hapmap]
rs10090356	0.96[ASN][1000 genomes]
rs10096966	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10097483	0.92[ASN][1000 genomes]
rs10100551	0.96[ASN][1000 genomes]
rs10103128	0.96[ASN][1000 genomes]
rs10104541	0.92[ASN][1000 genomes]
rs10109507	0.96[ASN][1000 genomes]
rs10109732	0.96[ASN][1000 genomes]
rs10112744	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11775257	0.92[ASN][1000 genomes]
rs11776911	0.86[EUR][1000 genomes]
rs11781521	0.92[ASN][1000 genomes]
rs11782335	0.96[ASN][1000 genomes]
rs12335134	0.96[ASN][1000 genomes]
rs17642782	0.96[ASN][1000 genomes]
rs17643143	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17699608	0.96[ASN][1000 genomes]
rs2060045	1.00[CHB][hapmap]
rs28448827	0.86[ASN][1000 genomes]
rs28700973	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28742018	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56005029	0.86[ASN][1000 genomes]
rs60052734	0.89[ASN][1000 genomes]
rs7012903	0.96[ASN][1000 genomes]
rs7838663	1.00[CHB][hapmap]
rs9329171	0.96[ASN][1000 genomes]
rs9329172	0.96[ASN][1000 genomes]
rs9329173	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv610190	chr8:8744240-8766881	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv1838060	chr8:8749969-8765165	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv1814108	chr8:8749990-8769708	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10093912	DEFB136	cis	parietal	SCAN
rs10093912	CLDN23	cis	multi-tissue	Pritchard

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8751600-8775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:8752800-8775000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:8757600-8762200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:8757800-8762400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:8758600-8775000	Weak transcription	Small Intestine	intestine
6	chr8:8759200-8770200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:8759200-8770200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:8761200-8762400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:8761200-8762400	Enhancers	A549	lung
10	chr8:8761200-8763000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:8761400-8762400	Enhancers	Hela-S3	cervix
12	chr8:8761400-8762800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:8761600-8762400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:8761600-8762400	Enhancers	NH-A	brain
15	chr8:8761800-8762200	Enhancers	NHLF	lung
16	chr8:8761800-8762400	Enhancers	HUVEC	blood vessel
17	chr8:8761800-8762400	Enhancers	Osteobl	bone
18	chr8:8762000-8762200	Enhancers	HSMMtube	muscle
19	chr8:8762000-8762400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:8762000-8762400	Enhancers	Fetal Stomach	stomach

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