Variant report

Variant	rs12752932
Chromosome Location	chr1:114270159-114270160
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	chr1:114255171..114257504-chr1:114268146..114270647,2	K562	blood:

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10127930	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10489936	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1080307	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1217384	0.84[EUR][1000 genomes]
rs12723023	0.81[EUR][1000 genomes]
rs12729708	0.83[EUR][1000 genomes]
rs12730735	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12731010	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12731969	0.82[AMR][1000 genomes]
rs12734625	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12735104	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12739970	0.81[EUR][1000 genomes]
rs12746609	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12748727	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12753075	0.82[EUR][1000 genomes]
rs12753351	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12758546	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12760457	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13374352	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17274550	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17274620	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17274634	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17359302	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17462614	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17508814	0.82[AMR][1000 genomes]
rs17509390	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1885454	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2040040	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2359173	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2359174	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34042871	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34341173	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34649199	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34698891	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34799402	0.81[AMR][1000 genomes]
rs34857922	0.84[EUR][1000 genomes]
rs34877889	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35320278	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35383900	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35836713	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36115604	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3747998	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3748003	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3752953	0.82[EUR][1000 genomes]
rs3761931	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3789595	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3789599	0.81[ASN][1000 genomes]
rs3789607	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3789609	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56257513	0.82[AMR][1000 genomes]
rs61817579	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61817586	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817617	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61819423	0.82[EUR][1000 genomes]
rs61819424	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61820162	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6668829	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6674848	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703387	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7533391	0.83[EUR][1000 genomes]
rs7533605	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7549685	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7555354	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9803891	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2179916	chr1:114266767-114271334	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 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	chr1:114228000-114287800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:114236400-114300000	Weak transcription	Small Intestine	intestine
5	chr1:114239200-114279800	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:114240200-114279400	Weak transcription	Psoas Muscle	Psoas
7	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:114245400-114270800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:114245400-114275000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:114245600-114300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:114248800-114290200	Weak transcription	HMEC	breast
12	chr1:114251000-114291400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:114253000-114279400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:114253000-114279600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:114254000-114272200	Weak transcription	HSMMtube	muscle
16	chr1:114254600-114277000	Weak transcription	Adipose Nuclei	Adipose
17	chr1:114254800-114271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:114256600-114283600	Weak transcription	Brain Anterior Caudate	brain
19	chr1:114256600-114288800	Weak transcription	K562	blood
20	chr1:114256800-114277200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:114257600-114283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:114257600-114296200	Weak transcription	Pancreas	Pancrea
23	chr1:114258000-114300000	Weak transcription	Right Ventricle	heart
24	chr1:114261400-114271400	Weak transcription	Thymus	Thymus
25	chr1:114261400-114277200	Weak transcription	HepG2	liver
26	chr1:114261400-114279000	Weak transcription	Spleen	Spleen
27	chr1:114261400-114300000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:114261400-114300600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:114261400-114301000	Weak transcription	Lung	lung
30	chr1:114261600-114272200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:114261600-114280200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:114261600-114300200	Weak transcription	Brain Angular Gyrus	brain
33	chr1:114261600-114300600	Weak transcription	Aorta	Aorta
34	chr1:114261600-114300600	Weak transcription	Esophagus	oesophagus
35	chr1:114261600-114300600	Weak transcription	Gastric	stomach
36	chr1:114262000-114272000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:114262000-114286400	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:114263600-114285400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:114263600-114300000	Weak transcription	Fetal Lung	lung
40	chr1:114263600-114300400	Weak transcription	Fetal Intestine Large	intestine
41	chr1:114263800-114274000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:114263800-114277200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:114263800-114279200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:114263800-114279200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:114263800-114279800	Weak transcription	Brain Germinal Matrix	brain
46	chr1:114264000-114272000	Weak transcription	Primary B cells from cord blood	blood
47	chr1:114264000-114277000	Weak transcription	Hela-S3	cervix
48	chr1:114264000-114279200	Weak transcription	Fetal Kidney	kidney
49	chr1:114264000-114300400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:114264200-114270600	Strong transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links