Variant report

Variant	rs2072942
Chromosome Location	chr1:209811806-209811807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209804297..209807709-chr1:209809477..209811913,3	MCF-7	breast:
2	chr1:209811179..209812712-chr1:209849579..209852575,2	K562	blood:
3	chr1:209809942..209814194-chr1:209821440..209824587,3	K562	blood:
4	chr1:209806336..209810218-chr1:209810896..209813908,3	K562	blood:
5	chr1:209810766..209813605-chr1:209813693..209816208,2	K562	blood:
6	chr1:209810488..209814194-chr1:209821440..209824229,3	K562	blood:
7	chr1:209800870..209803812-chr1:209809987..209812657,3	K562	blood:
8	chr1:209810174..209812266-chr1:209814708..209816997,2	K562	blood:

No data

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10489340	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12073223	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12089972	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090288	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12403733	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12410975	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17014889	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17014906	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17014942	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17014955	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17015006	0.86[AMR][1000 genomes]
rs2072937	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2072939	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076219	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076222	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076232	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076347	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076348	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076352	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2229465	0.87[AMR][1000 genomes]
rs2229466	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2235542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236889	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2236890	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2282734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36051870	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58679997	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59815577	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60927005	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs714971	0.95[AMR][1000 genomes];0.80[EUR][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209787400-209816200	Strong transcription	NHEK	skin
2	chr1:209799800-209814600	Strong transcription	Fetal Intestine Small	intestine
3	chr1:209800000-209813200	Strong transcription	Fetal Intestine Large	intestine
4	chr1:209801200-209814800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:209801400-209812800	Weak transcription	Pancreas	Pancrea
6	chr1:209801400-209814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:209801600-209814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:209801600-209818000	Weak transcription	Spleen	Spleen
9	chr1:209801600-209819800	Weak transcription	Lung	lung
10	chr1:209801800-209812000	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr1:209803600-209813200	Strong transcription	Hela-S3	cervix
12	chr1:209804400-209816600	Weak transcription	Small Intestine	intestine
13	chr1:209805200-209814600	Weak transcription	Adipose Nuclei	Adipose
14	chr1:209805400-209814600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:209805400-209814600	Weak transcription	Right Ventricle	heart
16	chr1:209805400-209816200	Weak transcription	Esophagus	oesophagus
17	chr1:209806200-209813200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:209808000-209814400	Weak transcription	Fetal Stomach	stomach
19	chr1:209808000-209816200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:209808400-209812000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:209808400-209815800	Weak transcription	Colonic Mucosa	Colon
22	chr1:209808600-209814600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:209808800-209812800	Weak transcription	Fetal Heart	heart
24	chr1:209809200-209812200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:209809400-209814800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:209809800-209813600	Genic enhancers	HMEC	breast
27	chr1:209810200-209812800	Weak transcription	Left Ventricle	heart
28	chr1:209810200-209814600	Weak transcription	Right Atrium	heart
29	chr1:209810600-209812000	Strong transcription	Gastric	stomach
30	chr1:209811000-209814600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:209811200-209812600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:209811400-209812800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:209811400-209814800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:209811400-209814800	Weak transcription	Psoas Muscle	Psoas
35	chr1:209811600-209812600	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:209811600-209813600	Strong transcription	Stomach Mucosa	stomach
37	chr1:209811800-209812000	Enhancers	Placenta	Placenta
38	chr1:209811800-209812800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:209811800-209814800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:209811800-209814800	Weak transcription	Rectal Mucosa Donor 29	rectum

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