Variant report

Variant	rs12800516
Chromosome Location	chr11:108551733-108551734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107992037..107994378-chr11:108551276..108554027,2	K562	blood:

Variant related genes	Relation type
ENSG00000255467	Chromatin interaction
ENSG00000075239	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10502103	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10749924	0.95[ASN][1000 genomes]
rs10749925	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs11828110	0.83[EUR][1000 genomes]
rs12574567	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12574721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12574758	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12577382	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12577980	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12785398	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12785439	0.84[ASN][1000 genomes]
rs12786616	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12793497	0.82[AMR][1000 genomes]
rs12794048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12794597	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12795663	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12800726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12802313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12803616	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12808060	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12808674	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1365047	0.85[CHB][hapmap]
rs1365048	0.83[JPT][hapmap]
rs1462787	0.87[ASN][1000 genomes]
rs1482268	0.95[ASN][1000 genomes]
rs17108571	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17108579	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17108608	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17108703	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2061681	0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2553749	0.83[AMR][1000 genomes]
rs2553750	0.83[AMR][1000 genomes]
rs2553751	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2553754	0.85[CHB][hapmap]
rs2553757	0.85[CHB][hapmap]
rs2615727	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2615756	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs2726885	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2726896	0.83[AMR][1000 genomes]
rs2726910	0.85[CHB][hapmap]
rs2726911	0.85[CHB][hapmap]
rs2726913	0.85[CHB][hapmap]
rs2726914	0.85[CHB][hapmap]
rs2726916	0.85[CHB][hapmap]
rs2726919	0.85[CHB][hapmap]
rs2726920	0.85[CHB][hapmap]
rs28736339	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34138098	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34180595	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34350110	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34354308	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34451436	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34805458	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34848528	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34942750	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35085871	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35244070	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35430545	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35525430	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35754206	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35777838	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36006135	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs36034048	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36043878	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57014838	0.81[ASN][1000 genomes]
rs57484308	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7107825	0.92[ASN][1000 genomes]
rs71489913	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71489916	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71489918	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71489919	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71489922	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71489925	0.83[ASN][1000 genomes]
rs898972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs970162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs970164	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108536600-108578400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108537800-108560200	Weak transcription	Small Intestine	intestine
3	chr11:108538200-108574800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:108540400-108560600	Weak transcription	Pancreas	Pancrea
5	chr11:108541400-108562800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:108541400-108578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:108543600-108575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:108544200-108569000	Weak transcription	Fetal Heart	heart
9	chr11:108544600-108552400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:108544600-108552800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:108544600-108553400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:108544800-108551800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:108545200-108551800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:108545400-108552200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:108545400-108552200	Strong transcription	Adipose Nuclei	Adipose
16	chr11:108545600-108552400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:108545600-108552600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:108545600-108552600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:108545800-108551800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr11:108545800-108552400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:108546000-108551800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:108546000-108552400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:108546000-108553200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:108546000-108554400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:108546600-108552400	Strong transcription	HMEC	breast
26	chr11:108546800-108556800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:108546800-108561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:108546800-108569400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:108548200-108553400	Weak transcription	Thymus	Thymus
30	chr11:108548200-108556400	Weak transcription	NHEK	skin
31	chr11:108548200-108556800	Weak transcription	Fetal Stomach	stomach
32	chr11:108548200-108557400	Weak transcription	Fetal Intestine Small	intestine
33	chr11:108548200-108557600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:108548200-108560400	Weak transcription	Spleen	Spleen
35	chr11:108548200-108560600	Weak transcription	Esophagus	oesophagus
36	chr11:108548200-108561000	Weak transcription	Lung	lung
37	chr11:108548200-108561200	Weak transcription	Gastric	stomach
38	chr11:108548200-108562800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:108548200-108577600	Weak transcription	Colonic Mucosa	Colon
40	chr11:108548400-108556400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:108548400-108556800	Weak transcription	Brain Substantia Nigra	brain
42	chr11:108548400-108559800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:108548400-108577200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:108548600-108557200	Weak transcription	Brain Germinal Matrix	brain
45	chr11:108548600-108559600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:108548600-108560000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:108548600-108570200	Weak transcription	Fetal Kidney	kidney
48	chr11:108548600-108577400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:108548800-108553800	Weak transcription	Psoas Muscle	Psoas
50	chr11:108548800-108556200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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