Variant report

Variant	rs11832160
Chromosome Location	chr12:49040711-49040712
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	chr12:49039946..49041565-chr12:49074606..49077281,2	K562	blood:

Variant related genes	Relation type
ENSG00000139620	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10875851	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168620	1.00[ASN][1000 genomes]
rs11168659	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168660	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168661	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168664	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168667	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168680	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168690	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168691	0.96[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168692	0.87[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168693	1.00[ASN][1000 genomes]
rs11168694	1.00[ASN][1000 genomes]
rs11168695	1.00[ASN][1000 genomes]
rs11168699	1.00[ASN][1000 genomes]
rs11168700	1.00[ASN][1000 genomes]
rs11168701	1.00[ASN][1000 genomes]
rs11168708	1.00[ASN][1000 genomes]
rs11168715	1.00[ASN][1000 genomes]
rs11168717	1.00[ASN][1000 genomes]
rs11168718	1.00[ASN][1000 genomes]
rs11168719	1.00[ASN][1000 genomes]
rs11168722	1.00[ASN][1000 genomes]
rs11168727	1.00[ASN][1000 genomes]
rs11837643	1.00[ASN][1000 genomes]
rs12366919	1.00[ASN][1000 genomes]
rs12369279	1.00[ASN][1000 genomes]
rs17123362	1.00[ASN][1000 genomes]
rs17834622	0.85[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895994	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409084	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3013	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132370	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55644947	1.00[ASN][1000 genomes]
rs56182935	1.00[ASN][1000 genomes]
rs61942011	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61942012	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942013	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942014	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942015	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942016	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942018	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942047	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942048	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942049	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942051	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61942052	0.81[AMR][1000 genomes]
rs61942053	0.81[AMR][1000 genomes]
rs61942058	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942059	1.00[ASN][1000 genomes]
rs61943193	1.00[ASN][1000 genomes]
rs61943194	1.00[ASN][1000 genomes]
rs6580694	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs7138342	1.00[ASN][1000 genomes]
rs7294389	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295027	0.96[CEU][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7295138	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296987	1.00[ASN][1000 genomes]
rs7303113	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105786	1.00[ASN][1000 genomes]
rs74088163	1.00[ASN][1000 genomes]
rs7486636	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964801	1.00[ASN][1000 genomes]
rs7966343	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967175	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967542	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973954	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975102	0.96[CEU][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977935	1.00[ASN][1000 genomes]
rs7979508	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953673	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49027600-49046600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:49028200-49045000	Weak transcription	Colonic Mucosa	Colon
3	chr12:49030000-49047200	Weak transcription	Esophagus	oesophagus
4	chr12:49031400-49043800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:49033800-49045200	Weak transcription	Spleen	Spleen
6	chr12:49034400-49042400	Weak transcription	Thymus	Thymus
7	chr12:49034600-49045800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:49034800-49041200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:49034800-49041800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:49034800-49044400	Weak transcription	NHEK	skin
11	chr12:49034800-49045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:49034800-49045400	Weak transcription	NHDF-Ad	bronchial
13	chr12:49035000-49041200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:49035000-49044400	Weak transcription	Brain Anterior Caudate	brain
15	chr12:49035000-49045600	Weak transcription	K562	blood
16	chr12:49035200-49042200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:49035200-49046800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:49035400-49044600	Weak transcription	HMEC	breast
19	chr12:49035400-49046200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:49035400-49047000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:49035400-49047000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:49035600-49042600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:49035800-49046800	Weak transcription	Gastric	stomach
24	chr12:49035800-49046800	Weak transcription	Ovary	ovary
25	chr12:49036000-49045600	Weak transcription	Right Ventricle	heart
26	chr12:49036200-49041800	Weak transcription	Fetal Stomach	stomach
27	chr12:49036400-49041800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:49036400-49041800	Weak transcription	Fetal Intestine Large	intestine
29	chr12:49036400-49041800	Weak transcription	Lung	lung
30	chr12:49036400-49045000	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:49036400-49045200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:49036400-49045400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:49036600-49041800	Weak transcription	Aorta	Aorta
34	chr12:49036600-49044200	Weak transcription	Fetal Thymus	thymus
35	chr12:49036600-49044800	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:49036600-49045000	Weak transcription	Left Ventricle	heart
37	chr12:49036600-49045200	Weak transcription	Brain Substantia Nigra	brain
38	chr12:49036800-49042400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:49036800-49043400	Strong transcription	A549	lung
40	chr12:49036800-49045200	Weak transcription	GM12878-XiMat	blood
41	chr12:49036800-49045200	Weak transcription	NH-A	brain
42	chr12:49036800-49072000	Strong transcription	Liver	Liver
43	chr12:49037000-49040800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:49037000-49045200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:49037000-49046600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:49037000-49046800	Weak transcription	NHLF	lung
47	chr12:49037200-49041000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:49037200-49043000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:49037200-49044600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:49037200-49045600	Weak transcription	Rectal Mucosa Donor 31	rectum

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