Variant report

Variant	rs4763824
Chromosome Location	chr12:12578552-12578553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11831188	1.00[ASN][1000 genomes]
rs11831555	1.00[ASN][1000 genomes]
rs16908006	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16908019	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1861674	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2193270	0.94[AFR][1000 genomes]
rs4763827	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4763828	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763831	0.83[ASN][1000 genomes]
rs56261569	0.81[ASN][1000 genomes]
rs58218344	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58529509	1.00[ASN][1000 genomes]
rs60022096	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60363317	1.00[ASN][1000 genomes]
rs60971404	1.00[ASN][1000 genomes]
rs6488521	1.00[ASN][1000 genomes]
rs6488523	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488524	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488527	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133988	1.00[ASN][1000 genomes]
rs7134787	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs714480	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7306292	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73287587	1.00[ASN][1000 genomes]
rs7957014	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973069	1.00[ASN][1000 genomes]
rs7975061	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7978842	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7980390	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888198	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12558000-12586000	Weak transcription	Pancreas	Pancrea
2	chr12:12565200-12585000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:12572600-12588400	Weak transcription	Primary T cells from cord blood	blood
4	chr12:12577200-12578600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:12577400-12582200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:12577400-12582600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:12577600-12580600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:12577600-12583800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:12577800-12578800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:12577800-12579200	Enhancers	Brain Anterior Caudate	brain
11	chr12:12577800-12579200	Enhancers	Osteobl	bone
12	chr12:12577800-12580000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:12577800-12581800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:12577800-12584000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:12578000-12578600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:12578000-12579000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:12578000-12579200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:12578000-12579400	Enhancers	Psoas Muscle	Psoas
19	chr12:12578000-12579400	Enhancers	HUVEC	blood vessel
20	chr12:12578000-12580000	Enhancers	Aorta	Aorta
21	chr12:12578200-12578600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:12578200-12579400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:12578200-12579600	Enhancers	Stomach Mucosa	stomach
24	chr12:12578200-12588600	Weak transcription	Primary B cells from cord blood	blood
25	chr12:12578400-12578800	Enhancers	Brain Hippocampus Middle	brain
26	chr12:12578400-12578800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:12578400-12578800	Weak transcription	NHLF	lung
28	chr12:12578400-12579000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:12578400-12579200	Enhancers	HSMM	muscle
30	chr12:12578400-12579400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr12:12578400-12586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:12578400-12588200	Weak transcription	Primary B cells from peripheral blood	blood

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