Variant report

Variant	rs1230642
Chromosome Location	chr1:114265491-114265492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10858017	0.85[ASN][1000 genomes]
rs10858018	0.83[ASN][1000 genomes]
rs10858019	0.83[ASN][1000 genomes]
rs12041547	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12044534	0.82[ASN][1000 genomes]
rs12061482	0.88[ASN][1000 genomes]
rs12063216	0.87[ASN][1000 genomes]
rs1217376	0.83[ASN][1000 genomes]
rs1217377	0.83[ASN][1000 genomes]
rs1217380	0.83[ASN][1000 genomes]
rs1217388	0.82[ASN][1000 genomes]
rs1217389	0.82[ASN][1000 genomes]
rs1217395	0.82[ASN][1000 genomes]
rs1217396	0.81[ASN][1000 genomes]
rs1217407	0.82[ASN][1000 genomes]
rs1217410	0.81[ASN][1000 genomes]
rs1217412	0.82[ASN][1000 genomes]
rs1217413	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1217416	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1217421	0.81[ASN][1000 genomes]
rs1230637	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230638	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1230639	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1230640	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230645	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230646	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1230647	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230649	0.91[ASN][1000 genomes]
rs1230656	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1230661	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1230678	0.85[ASN][1000 genomes]
rs1230679	0.82[ASN][1000 genomes]
rs1230685	0.85[ASN][1000 genomes]
rs1230687	0.85[ASN][1000 genomes]
rs1237682	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1599971	0.82[ASN][1000 genomes]
rs1935838	0.82[ASN][1000 genomes]
rs1936398	0.91[ASN][1000 genomes]
rs1981319	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2093436	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243471	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2295853	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2359167	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2488457	0.82[EUR][1000 genomes]
rs2636013	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2636014	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2797409	0.82[ASN][1000 genomes]
rs2797412	0.85[ASN][1000 genomes]
rs4145859	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4423005	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4565712	0.85[ASN][1000 genomes]
rs4600045	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4838998	0.80[ASN][1000 genomes]
rs61817589	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6537795	0.88[ASN][1000 genomes]
rs6663679	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6698586	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7526209	0.87[ASN][1000 genomes]
rs7553188	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
2	chr1:114216200-114279800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:114227000-114268200	Weak transcription	NHLF	lung
4	chr1:114228000-114287800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:114236400-114300000	Weak transcription	Small Intestine	intestine
6	chr1:114238400-114266800	Weak transcription	NHEK	skin
7	chr1:114239200-114279800	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:114240200-114279400	Weak transcription	Psoas Muscle	Psoas
9	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:114242800-114269800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:114245400-114270800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:114245400-114275000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:114245600-114300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:114248800-114290200	Weak transcription	HMEC	breast
15	chr1:114251000-114291400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:114253000-114279400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:114253000-114279600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:114253200-114266800	Weak transcription	HSMM	muscle
19	chr1:114253400-114266800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:114254000-114272200	Weak transcription	HSMMtube	muscle
21	chr1:114254600-114277000	Weak transcription	Adipose Nuclei	Adipose
22	chr1:114254800-114266400	Weak transcription	NHDF-Ad	bronchial
23	chr1:114254800-114271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:114256600-114283600	Weak transcription	Brain Anterior Caudate	brain
25	chr1:114256600-114288800	Weak transcription	K562	blood
26	chr1:114256800-114277200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:114257600-114283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:114257600-114296200	Weak transcription	Pancreas	Pancrea
29	chr1:114258000-114267200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:114258000-114300000	Weak transcription	Right Ventricle	heart
31	chr1:114258600-114265800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:114261000-114269200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:114261400-114267600	Weak transcription	A549	lung
34	chr1:114261400-114271400	Weak transcription	Thymus	Thymus
35	chr1:114261400-114277200	Weak transcription	HepG2	liver
36	chr1:114261400-114279000	Weak transcription	Spleen	Spleen
37	chr1:114261400-114300000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:114261400-114300600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:114261400-114301000	Weak transcription	Lung	lung
40	chr1:114261600-114266800	Weak transcription	Left Ventricle	heart
41	chr1:114261600-114268200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:114261600-114269200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:114261600-114272200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:114261600-114280200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:114261600-114300200	Weak transcription	Brain Angular Gyrus	brain
46	chr1:114261600-114300600	Weak transcription	Aorta	Aorta
47	chr1:114261600-114300600	Weak transcription	Esophagus	oesophagus
48	chr1:114261600-114300600	Weak transcription	Gastric	stomach
49	chr1:114261800-114266800	Weak transcription	Ovary	ovary
50	chr1:114262000-114272000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links