Variant report

Variant	rs13259182
Chromosome Location	chr8:96239947-96239948
allele	C/T
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:96145188..96147902-chr8:96236051..96240393,4	K562	blood:
2	chr8:96192843..96194703-chr8:96238022..96240558,2	K562	blood:
3	chr8:96145964..96148025-chr8:96239692..96241242,2	MCF-7	breast:
4	chr8:96239351..96241151-chr8:96247805..96249381,2	MCF-7	breast:
5	chr8:96239016..96241801-chr8:96243185..96245921,2	MCF-7	breast:
6	chr8:96228952..96231247-chr8:96237951..96240683,3	MCF-7	breast:
7	chr8:96143360..96148175-chr8:96235522..96240876,10	MCF-7	breast:
8	chr8:96233041..96235359-chr8:96238288..96241007,3	K562	blood:
9	chr8:96084881..96087733-chr8:96239867..96242215,3	MCF-7	breast:
10	chr8:96222215..96224892-chr8:96239784..96242279,2	MCF-7	breast:
11	chr8:96232323..96234888-chr8:96235835..96240054,4	MCF-7	breast:
12	chr8:96236807..96240008-chr8:96246119..96247780,3	MCF-7	breast:
13	chr8:96238086..96240049-chr8:96241356..96243074,2	K562	blood:
14	chr8:96224814..96227323-chr8:96239460..96241166,3	MCF-7	breast:
15	chr8:96239240..96241215-chr8:96244914..96248459,3	K562	blood:
16	chr8:96145188..96147654-chr8:96237767..96240393,2	K562	blood:
17	chr8:96087772..96089911-chr8:96238508..96240959,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245080	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10956943	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13263562	0.82[ASN][1000 genomes]
rs13263858	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13270711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13279671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1441394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1441395	0.81[YRI][hapmap]
rs1441396	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1530257	0.95[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs2083616	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2439629	0.88[ASN][1000 genomes]
rs2439630	0.95[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2514551	0.88[ASN][1000 genomes]
rs2514552	0.95[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2514553	0.95[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2514574	0.95[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs4492337	0.95[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs4509290	0.81[YRI][hapmap]
rs4560758	0.82[ASN][1000 genomes]
rs7815255	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs7820512	0.82[ASN][1000 genomes]
rs7835921	0.95[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs876260	0.95[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs876261	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs879997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs879998	0.96[ASN][1000 genomes]
rs879999	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs894151	1.00[CEU][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9297955	0.82[ASN][1000 genomes]
rs9297956	0.82[ASN][1000 genomes]
rs9649978	0.88[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:96231600-96241600	Enhancers	Fetal Thymus	thymus
3	chr8:96234000-96240000	Weak transcription	Primary T cells from cord blood	blood
4	chr8:96235000-96242200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:96235200-96249200	Enhancers	Primary B cells from cord blood	blood
6	chr8:96235400-96240000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:96235800-96240000	Enhancers	Brain Hippocampus Middle	brain
8	chr8:96238000-96240800	Enhancers	GM12878-XiMat	blood
9	chr8:96238600-96241000	Enhancers	HepG2	liver
10	chr8:96238600-96242000	Weak transcription	HSMMtube	muscle
11	chr8:96238600-96244800	Weak transcription	Left Ventricle	heart
12	chr8:96238600-96246600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:96238800-96241000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:96238800-96241000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:96238800-96241000	Weak transcription	HMEC	breast
16	chr8:96238800-96243800	Weak transcription	Fetal Heart	heart
17	chr8:96238800-96250200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:96239000-96240400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr8:96239000-96240400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:96239000-96240800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:96239000-96241000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:96239000-96241000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:96239000-96241000	Weak transcription	NHEK	skin
24	chr8:96239000-96241200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:96239000-96243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:96239000-96244000	Weak transcription	Right Atrium	heart
27	chr8:96239000-96244800	Weak transcription	Right Ventricle	heart
28	chr8:96239200-96246400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:96239400-96241000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:96239400-96241000	Weak transcription	Spleen	Spleen
31	chr8:96239400-96241200	Weak transcription	Esophagus	oesophagus
32	chr8:96239400-96242000	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:96239600-96240200	Enhancers	Brain Germinal Matrix	brain
34	chr8:96239600-96240200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:96239600-96240800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:96239600-96240800	Weak transcription	Placenta	Placenta
37	chr8:96239600-96240800	Enhancers	K562	blood
38	chr8:96239600-96241000	Enhancers	Thymus	Thymus
39	chr8:96239600-96244600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr8:96239800-96240000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr8:96239800-96240000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:96239800-96240200	Enhancers	Fetal Kidney	kidney
43	chr8:96239800-96240800	Weak transcription	Fetal Intestine Large	intestine
44	chr8:96239800-96240800	Weak transcription	Fetal Intestine Small	intestine
45	chr8:96239800-96244400	Weak transcription	Fetal Stomach	stomach

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