Variant report

Variant	rs12036957
Chromosome Location	chr1:84946924-84946925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84945634..84947258-chr1:85153889..85156502,2	K562	blood:
2	chr1:84946730..84947401-chr9:80911526..80912502,2	HCT-116	colon:
3	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
4	chr1:84765808..84767323-chr1:84944913..84947326,2	K562	blood:
5	chr1:84946525..84949349-chr1:84951021..84952787,2	MCF-7	breast:
6	chr1:84944684..84947410-chr1:84970225..84973395,6	MCF-7	breast:
7	chr1:84940376..84943283-chr1:84945216..84947221,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122432	Chromatin interaction
ENSG00000117151	Chromatin interaction
ENSG00000135069	Chromatin interaction
ENSG00000203943	Chromatin interaction
ENSG00000117155	Chromatin interaction
ENSG00000174021	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11163969	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11163970	0.96[ASN][1000 genomes]
rs11163979	0.98[ASN][1000 genomes]
rs11163980	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11163981	0.98[ASN][1000 genomes]
rs11163990	0.94[ASN][1000 genomes]
rs11163994	0.98[ASN][1000 genomes]
rs11163999	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1144276	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12040469	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12071149	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12128801	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12403545	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1246159	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1246236	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1246253	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1246254	0.92[ASN][1000 genomes]
rs1246255	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1400777	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1533374	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2389743	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2659173	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2677839	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2794217	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2794218	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911593	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2994954	0.89[ASN][1000 genomes]
rs2994955	0.88[ASN][1000 genomes]
rs3021402	0.87[ASN][1000 genomes]
rs312397	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs312401	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4906995	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4906997	0.87[ASN][1000 genomes]
rs4907078	0.92[ASN][1000 genomes]
rs6576713	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6576715	0.81[ASN][1000 genomes]
rs6692765	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6704211	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7516200	0.90[ASN][1000 genomes]
rs7537818	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645393	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised 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	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84944400-84947000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:84944600-84947000	Active TSS	Aorta	Aorta
3	chr1:84945600-84947000	Flanking Active TSS	Dnd41	blood
4	chr1:84945600-84949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:84945800-84947200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:84946000-84947000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:84946000-84947000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:84946000-84947000	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:84946000-84947000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:84946000-84947000	Enhancers	Fetal Lung	lung
11	chr1:84946000-84947000	Weak transcription	Placenta	Placenta
12	chr1:84946000-84947000	Weak transcription	Left Ventricle	heart
13	chr1:84946000-84947000	Weak transcription	Lung	lung
14	chr1:84946000-84947000	Weak transcription	Pancreas	Pancrea
15	chr1:84946000-84947000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:84946000-84947400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:84946000-84947400	Enhancers	Fetal Heart	heart
18	chr1:84946000-84947400	Enhancers	Small Intestine	intestine
19	chr1:84946000-84948600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:84946000-84949000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:84946000-84949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:84946000-84956400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:84946000-84956400	Weak transcription	Gastric	stomach
24	chr1:84946000-84956400	Weak transcription	Spleen	Spleen
25	chr1:84946000-84965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:84946000-84967000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:84946000-84969600	Weak transcription	Esophagus	oesophagus
28	chr1:84946000-84970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:84946000-84970800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:84946200-84947000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:84946200-84947000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:84946200-84947200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:84946200-84947200	Flanking Active TSS	Hela-S3	cervix
34	chr1:84946200-84947400	Enhancers	Colon Smooth Muscle	Colon
35	chr1:84946200-84947600	Weak transcription	Brain Substantia Nigra	brain
36	chr1:84946200-84948600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:84946200-84948600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:84946200-84949000	Weak transcription	Fetal Stomach	stomach
39	chr1:84946200-84949200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:84946200-84955200	Weak transcription	Right Ventricle	heart
41	chr1:84946200-84956200	Weak transcription	Colonic Mucosa	Colon
42	chr1:84946200-84962800	Weak transcription	HSMMtube	muscle
43	chr1:84946400-84947000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:84946400-84947000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:84946400-84947000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:84946400-84947000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:84946400-84947000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr1:84946400-84947000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr1:84946400-84947000	Weak transcription	Brain Angular Gyrus	brain
50	chr1:84946400-84947000	Enhancers	Duodenum Smooth Muscle	Duodenum

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