Variant report

Variant	rs13279671
Chromosome Location	chr8:96241676-96241677
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96143545..96145795-chr8:96241070..96242615,2	K562	blood:
2	chr8:96239016..96241801-chr8:96243185..96245921,2	MCF-7	breast:
3	chr8:96240965..96243166-chr8:96252025..96254042,3	K562	blood:
4	chr8:96238086..96240049-chr8:96241356..96243074,2	K562	blood:
5	chr8:96240789..96242805-chr8:96252372..96254385,3	K562	blood:
6	chr8:96084881..96087733-chr8:96239867..96242215,3	MCF-7	breast:
7	chr8:96222215..96224892-chr8:96239784..96242279,2	MCF-7	breast:
8	chr8:96241566..96243964-chr8:96265502..96267289,2	K562	blood:
9	chr8:96241648..96244611-chr8:96247721..96251221,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245080	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10956943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13258855	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs13259182	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]
rs13263562	0.89[ASN][1000 genomes]
rs13263858	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1441394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1441396	1.00[CEU][hapmap];0.95[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1530257	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17669929	0.85[ASN][1000 genomes]
rs2083616	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2439629	0.95[ASN][1000 genomes]
rs2439630	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2514551	0.95[ASN][1000 genomes]
rs2514552	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2514553	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2514574	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4492337	0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4560758	0.89[ASN][1000 genomes]
rs7815255	1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7820512	0.89[ASN][1000 genomes]
rs7835921	0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs876260	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs876261	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs879997	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs879998	0.89[ASN][1000 genomes]
rs879999	0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs894151	0.86[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9297955	0.89[ASN][1000 genomes]
rs9297956	0.89[ASN][1000 genomes]
rs9649978	0.94[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:38 , 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	chr8:96235000-96242200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:96235200-96249200	Enhancers	Primary B cells from cord blood	blood
4	chr8:96238600-96242000	Weak transcription	HSMMtube	muscle
5	chr8:96238600-96244800	Weak transcription	Left Ventricle	heart
6	chr8:96238600-96246600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:96238800-96243800	Weak transcription	Fetal Heart	heart
8	chr8:96238800-96250200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:96239000-96243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:96239000-96244000	Weak transcription	Right Atrium	heart
11	chr8:96239000-96244800	Weak transcription	Right Ventricle	heart
12	chr8:96239200-96246400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:96239400-96242000	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:96239600-96244600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:96239800-96244400	Weak transcription	Fetal Stomach	stomach
16	chr8:96240200-96241800	Enhancers	Fetal Muscle Trunk	muscle
17	chr8:96240400-96244200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:96240800-96241800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:96240800-96241800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:96240800-96241800	Enhancers	Placenta	Placenta
21	chr8:96240800-96241800	Flanking Active TSS	GM12878-XiMat	blood
22	chr8:96240800-96242000	Enhancers	Fetal Intestine Large	intestine
23	chr8:96240800-96242000	Enhancers	Fetal Intestine Small	intestine
24	chr8:96241000-96242200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:96241000-96242200	Enhancers	NHEK	skin
26	chr8:96241000-96242400	Weak transcription	Thymus	Thymus
27	chr8:96241000-96243800	Enhancers	Primary hematopoietic stem cells	blood
28	chr8:96241000-96246800	Weak transcription	HepG2	liver
29	chr8:96241200-96241800	Enhancers	Esophagus	oesophagus
30	chr8:96241200-96241800	ZNF genes & repeats	Lung	lung
31	chr8:96241200-96243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:96241200-96245000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:96241400-96243200	Weak transcription	Primary T cells from cord blood	blood
34	chr8:96241400-96243600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:96241400-96243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:96241400-96244000	Enhancers	K562	blood
37	chr8:96241600-96241800	Enhancers	Spleen	Spleen
38	chr8:96241600-96242000	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links