Variant report

Variant	rs13208486
Chromosome Location	chr6:15405631-15405632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:15397507..15402114-chr6:15402418..15406858,9	K562	blood:
2	chr6:15402174..15407413-chr6:15410357..15414538,6	K562	blood:

Variant related genes	Relation type
ENSG00000008083	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10484355	1.00[CEU][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10949294	1.00[JPT][hapmap]
rs10949295	1.00[JPT][hapmap]
rs11756544	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11757415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11759478	0.88[JPT][hapmap]
rs12211278	1.00[JPT][hapmap]
rs13192347	0.88[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13194410	0.88[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13195950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13205396	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13205612	1.00[CEU][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13214720	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16876278	1.00[JPT][hapmap]
rs16876354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17468929	0.86[CEU][hapmap]
rs17575737	0.86[JPT][hapmap]
rs17576233	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17576436	0.88[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17576710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17637773	1.00[JPT][hapmap]
rs17638192	0.88[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17638720	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299057	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34002211	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34764533	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35047303	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35139070	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35364784	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35629999	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35734069	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35918625	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56123857	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61296041	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66478504	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6941859	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72836327	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs742102	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7747437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7767966	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1019927	chr6:15351240-15419257	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv538145	chr6:15351240-15419257	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15396200-15410200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr6:15397600-15405800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:15398000-15406000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr6:15398600-15405800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:15398600-15406600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:15399000-15410600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:15400200-15406000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:15400200-15406200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:15400400-15412800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:15400600-15406600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:15400800-15411200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:15401200-15405800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:15401200-15405800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr6:15401200-15405800	Enhancers	Fetal Intestine Small	intestine
15	chr6:15401200-15406000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr6:15401200-15406000	Enhancers	Fetal Lung	lung
17	chr6:15401200-15406200	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:15401200-15406400	Weak transcription	Gastric	stomach
19	chr6:15401200-15407600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:15401200-15414000	Weak transcription	Aorta	Aorta
21	chr6:15401200-15417200	Weak transcription	Lung	lung
22	chr6:15401200-15426200	Weak transcription	Pancreas	Pancrea
23	chr6:15401400-15406200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:15401400-15406800	Enhancers	K562	blood
25	chr6:15401400-15411600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:15401600-15406000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:15401600-15415800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:15402200-15406200	Enhancers	Psoas Muscle	Psoas
29	chr6:15402400-15406600	Enhancers	Fetal Thymus	thymus
30	chr6:15402400-15406600	Enhancers	Left Ventricle	heart
31	chr6:15402400-15407000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:15402600-15413600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:15402800-15406200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:15403000-15405800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:15403000-15405800	Enhancers	Fetal Heart	heart
36	chr6:15403000-15406600	Enhancers	Fetal Brain Male	brain
37	chr6:15403000-15407200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:15403000-15409200	Weak transcription	Placenta	Placenta
39	chr6:15403000-15409400	Weak transcription	HepG2	liver
40	chr6:15403000-15413600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr6:15403000-15422000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr6:15403400-15408600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr6:15403600-15406200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:15403600-15407600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:15403600-15411400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:15403800-15406400	Weak transcription	Right Atrium	heart
47	chr6:15404000-15406600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:15404200-15406800	Enhancers	Fetal Brain Female	brain
49	chr6:15404600-15407400	Weak transcription	Right Ventricle	heart
50	chr6:15404600-15409600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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