Variant report

Variant	rs12102154
Chromosome Location	chr15:75513545-75513546
allele	A/G
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	POLR2A	chr15:75510919-75515326	GM12891	blood:	n/a	n/a
2	POLR2A	chr15:75510518-75515231	GM12891	blood:	n/a	n/a
3	POLR2A	chr15:75512684-75513717	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:75512447-75514089	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:75513298-75514033	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:75512441-75513684	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:75489631-75513671	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75505979..75508081-chr15:75512017..75514345,2	K562	blood:
2	chr15:75509812..75512195-chr15:75513423..75516416,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264950	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11072532	0.82[ASN][1000 genomes]
rs11072533	0.81[ASN][1000 genomes]
rs12591506	0.81[ASN][1000 genomes]
rs2006683	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3743210	0.82[ASN][1000 genomes]
rs7403344	0.81[ASN][1000 genomes]
rs7403387	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv833056	chr15:75452947-75614590	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv904384	chr15:75493823-75520378	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv569995	chr15:75493823-75537475	Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv569996	chr15:75493823-75540491	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv904385	chr15:75493823-75546700	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
12	nsv1035829	chr15:75504534-75692417	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
13	nsv977736	chr15:75509295-75632679	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75504800-75515800	Weak transcription	Brain Hippocampus Middle	brain
2	chr15:75505800-75521400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:75506000-75513800	Weak transcription	Pancreas	Pancrea
4	chr15:75506600-75514600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:75506800-75514800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr15:75506800-75518400	Weak transcription	Ovary	ovary
7	chr15:75507000-75516800	Weak transcription	Gastric	stomach
8	chr15:75507400-75517000	Weak transcription	Esophagus	oesophagus
9	chr15:75507400-75518200	Weak transcription	Lung	lung
10	chr15:75508000-75517400	Weak transcription	Right Ventricle	heart
11	chr15:75508200-75524600	Weak transcription	Spleen	Spleen
12	chr15:75508800-75514200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:75510000-75513800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:75510200-75516400	Weak transcription	Fetal Intestine Small	intestine
15	chr15:75511400-75517600	Weak transcription	Colonic Mucosa	Colon
16	chr15:75511600-75514600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr15:75512000-75514000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:75512200-75516800	Weak transcription	Stomach Mucosa	stomach
19	chr15:75512400-75513600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:75512600-75514400	Strong transcription	Fetal Stomach	stomach
21	chr15:75512800-75514600	Weak transcription	Aorta	Aorta
22	chr15:75513000-75514600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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