Variant report

Variant	rs13255052
Chromosome Location	chr8:61696231-61696232
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10088263	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1038353	0.88[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10957159	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957160	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11775560	0.92[ASN][1000 genomes]
rs12056700	0.91[ASN][1000 genomes]
rs13256023	0.88[ASW][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs13278198	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2326597	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34022185	0.91[ASN][1000 genomes]
rs34345692	0.91[ASN][1000 genomes]
rs35149496	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35254359	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35687554	0.83[ASN][1000 genomes]
rs35914442	0.91[ASN][1000 genomes]
rs6471900	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471904	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67670110	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6987611	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6988835	0.88[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6989150	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6994642	0.87[CEU][hapmap];0.85[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7460516	0.91[ASN][1000 genomes]
rs7823926	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7833957	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7840098	0.83[YRI][hapmap]
rs7846314	0.93[ASN][1000 genomes]
rs9298041	0.86[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS 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	33 gene(s)	inside rSNPs	diseases
3	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1797364	chr8:61658362-61696231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61680000-61698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:61680200-61704200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:61680200-61705200	Weak transcription	Esophagus	oesophagus
4	chr8:61680200-61710400	Weak transcription	Pancreas	Pancrea
5	chr8:61681200-61698600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:61681200-61700400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:61681200-61705200	Weak transcription	Spleen	Spleen
8	chr8:61682200-61705200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:61683600-61711200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:61685200-61704200	Weak transcription	Small Intestine	intestine
11	chr8:61686000-61698600	Weak transcription	Fetal Intestine Small	intestine
12	chr8:61687200-61704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:61687200-61704200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:61687200-61720400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:61687400-61704400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:61688800-61719600	Weak transcription	NHEK	skin
17	chr8:61689400-61702600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:61690000-61705200	Weak transcription	Psoas Muscle	Psoas
19	chr8:61690200-61705200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:61690400-61696400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:61691200-61703600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:61691800-61705200	Weak transcription	Colonic Mucosa	Colon
24	chr8:61692200-61698800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:61692200-61719400	Weak transcription	HMEC	breast
26	chr8:61692600-61699400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:61692800-61701000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:61693000-61704200	Weak transcription	Fetal Kidney	kidney
29	chr8:61693600-61696400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr8:61693600-61697200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:61693600-61697800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:61693600-61698200	Strong transcription	Dnd41	blood
33	chr8:61693800-61697200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr8:61693800-61697600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:61694000-61697400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:61694000-61697400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:61694000-61703800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:61694000-61705000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:61694400-61697000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:61694400-61698600	Strong transcription	Primary B cells from cord blood	blood
41	chr8:61694600-61697200	Strong transcription	HepG2	liver
42	chr8:61694800-61697200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:61694800-61697200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr8:61694800-61697200	Enhancers	Rectal Smooth Muscle	rectum
45	chr8:61694800-61697600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:61694800-61704000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:61694800-61708200	Weak transcription	A549	lung
48	chr8:61695000-61696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:61695000-61696600	Weak transcription	Fetal Intestine Large	intestine
50	chr8:61695000-61697000	Weak transcription	Lung	lung

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