Variant report

Variant	rs8025431
Chromosome Location	chr15:75489815-75489816
allele	A/C
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	chr15:75489497-75489996	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:75489631-75513671	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75488443..75491201-chr17:56869356..56872036,2	MCF-7	breast:
2	chr15:75487202..75491376-chr15:75491587..75495203,5	K562	blood:
3	chr15:75488848..75492298-chr15:75492406..75495739,4	MCF-7	breast:

Variant related genes	Relation type
C15orf39	TF binding region
ENSG00000167173	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11072532	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11072533	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11072534	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11072536	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11636245	0.85[CHB][hapmap]
rs11853027	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12591506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12592411	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12708517	0.89[ASN][1000 genomes]
rs12904018	0.90[ASN][1000 genomes]
rs1532155	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2006683	0.84[ASN][1000 genomes]
rs3743210	0.93[ASN][1000 genomes]
rs3743211	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4886428	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs4886430	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4886431	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4886677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7403344	0.92[ASN][1000 genomes]
rs8027407	0.81[AFR][1000 genomes]
rs8039284	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8043432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs902482	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs953555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

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	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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75477200-75492600	Weak transcription	Spleen	Spleen
2	chr15:75484200-75491600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:75484200-75492800	Enhancers	Placenta	Placenta
4	chr15:75485600-75491200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:75486200-75490000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr15:75487000-75490000	Enhancers	Fetal Stomach	stomach
7	chr15:75487000-75491200	Enhancers	Fetal Heart	heart
8	chr15:75487400-75491000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr15:75487600-75490200	Enhancers	Duodenum Mucosa	Duodenum
10	chr15:75487600-75490200	Enhancers	Fetal Intestine Small	intestine
11	chr15:75487800-75490000	Enhancers	Fetal Muscle Leg	muscle
12	chr15:75487800-75493200	Weak transcription	Brain Substantia Nigra	brain
13	chr15:75488000-75490600	Weak transcription	Pancreas	Pancrea
14	chr15:75488000-75493200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:75488200-75490400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:75488200-75491200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:75488200-75491800	Weak transcription	Psoas Muscle	Psoas
18	chr15:75488200-75493400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:75488400-75492600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:75488400-75493200	Weak transcription	Colon Smooth Muscle	Colon
21	chr15:75488600-75491200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr15:75488600-75491200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:75488600-75491200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:75488600-75491200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr15:75488600-75491200	Weak transcription	Lung	lung
26	chr15:75488600-75491400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr15:75488600-75491600	Weak transcription	Colonic Mucosa	Colon
28	chr15:75488600-75491600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr15:75488600-75492200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:75488600-75492200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:75488600-75493400	Weak transcription	Ovary	ovary
32	chr15:75488800-75490400	Weak transcription	GM12878-XiMat	blood
33	chr15:75488800-75490600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr15:75488800-75490600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr15:75488800-75490800	Weak transcription	Fetal Intestine Large	intestine
36	chr15:75488800-75492000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:75488800-75492800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:75489000-75490000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:75489000-75490600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr15:75489000-75490800	Weak transcription	Hela-S3	cervix
41	chr15:75489000-75491600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:75489400-75490000	Enhancers	Left Ventricle	heart
43	chr15:75489400-75490000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr15:75489400-75490000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr15:75489400-75490000	Flanking Active TSS	HepG2	liver
46	chr15:75489400-75490200	Enhancers	Stomach Mucosa	stomach
47	chr15:75489400-75491200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:75489600-75490000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:75489600-75490000	Enhancers	Right Ventricle	heart
50	chr15:75489600-75490200	Weak transcription	Fetal Thymus	thymus

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