Variant report

Variant	rs12043793
Chromosome Location	chr1:77844100-77844101
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	chr1:77840080..77842951-chr1:77843079..77845956,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10873935	1.00[ASN][1000 genomes]
rs11162326	0.86[ASN][1000 genomes]
rs11162327	0.86[ASN][1000 genomes]
rs11162329	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162335	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17100509	0.88[ASN][1000 genomes]
rs17100513	0.82[ASN][1000 genomes]
rs2198511	0.88[ASN][1000 genomes]
rs2602937	0.89[ASN][1000 genomes]
rs28701620	0.86[ASN][1000 genomes]
rs3862893	0.86[ASN][1000 genomes]
rs4949800	0.85[ASN][1000 genomes]
rs6603943	0.85[ASN][1000 genomes]
rs6704312	0.89[ASN][1000 genomes]
rs7546116	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[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	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77835800-77846400	Weak transcription	Aorta	Aorta
2	chr1:77836600-77844400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:77837000-77844400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:77837200-77845000	Weak transcription	Fetal Stomach	stomach
5	chr1:77837400-77844600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:77837400-77845800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:77837600-77844800	Weak transcription	HSMMtube	muscle
8	chr1:77837800-77844200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:77837800-77844400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:77838000-77844200	Weak transcription	Primary T cells from cord blood	blood
11	chr1:77838600-77844400	Weak transcription	HSMM	muscle
12	chr1:77838600-77845000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:77838800-77844200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:77839000-77854000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:77839800-77844600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:77840000-77844600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:77841000-77844200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:77841000-77844600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:77841200-77844400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:77841600-77844600	Weak transcription	NHLF	lung
21	chr1:77842000-77844400	Weak transcription	Brain Anterior Caudate	brain
22	chr1:77842000-77844800	Weak transcription	NHDF-Ad	bronchial
23	chr1:77842600-77844600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:77842600-77846000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:77842800-77846400	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:77843000-77844200	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:77843200-77845000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr1:77843200-77845200	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:77843600-77846600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:77843800-77844600	Weak transcription	Brain Substantia Nigra	brain
31	chr1:77844000-77845000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:77844000-77845000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:77844000-77845200	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links