Variant report

Variant	rs62183492
Chromosome Location	chr2:172296238-172296239
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:
2	chr2:172294486..172297106-chr2:172372290..172374923,2	K562	blood:
3	chr2:172012919..172015830-chr2:172294656..172296953,2	K562	blood:
4	chr2:172296199..172299351-chr2:172302148..172304062,3	K562	blood:
5	chr2:172287467..172293160-chr2:172293206..172300397,21	K562	blood:
6	chr2:172016674..172018402-chr2:172295165..172296770,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000071967	Chromatin interaction
ENSG00000233762	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10445722	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10490604	0.80[ASN][1000 genomes]
rs10515933	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12151641	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1476111	0.81[ASN][1000 genomes]
rs1558936	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17220419	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17220440	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17220608	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17220657	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17220699	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17220734	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17221367	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17221402	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17221619	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17286415	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17286660	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1861899	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1981788	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2356781	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28742013	0.81[ASN][1000 genomes]
rs36112363	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3731981	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3731982	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3731983	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3731985	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3795998	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3821084	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4417688	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4458186	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4496302	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4522571	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4668385	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4668386	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4668387	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55999882	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56410960	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57099324	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58536060	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59960186	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60439518	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181352	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62183467	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62183468	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183470	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62183471	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62183472	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62183493	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62183494	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62183495	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62183497	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183498	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62183499	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183502	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183503	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183504	0.80[ASN][1000 genomes]
rs62183506	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183507	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62183539	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433290	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6433291	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433292	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6718740	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6720250	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6740733	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6741806	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6743290	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6751956	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7568037	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7572334	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7576894	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7594714	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7598137	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7606658	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9678149	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9678164	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9679537	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9789572	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9789596	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv3349868	chr2:172276494-172302401	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
2	chr2:172291400-172296400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:172291400-172296400	Weak transcription	Aorta	Aorta
4	chr2:172291400-172296400	Weak transcription	Small Intestine	intestine
5	chr2:172291400-172297800	Weak transcription	Esophagus	oesophagus
6	chr2:172291400-172297800	Weak transcription	Gastric	stomach
7	chr2:172291600-172297800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:172291600-172304000	Weak transcription	Pancreas	Pancrea
9	chr2:172291600-172305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:172291600-172311800	Weak transcription	Fetal Brain Male	brain
11	chr2:172291800-172296400	Weak transcription	Brain Germinal Matrix	brain
12	chr2:172291800-172296400	Weak transcription	Colonic Mucosa	Colon
13	chr2:172291800-172296600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:172291800-172297800	Weak transcription	HSMMtube	muscle
15	chr2:172291800-172300000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:172291800-172306400	Weak transcription	Psoas Muscle	Psoas
17	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:172292000-172296400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:172292000-172297200	Weak transcription	NHLF	lung
20	chr2:172292000-172304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:172292000-172312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:172292200-172297400	Weak transcription	Hela-S3	cervix
24	chr2:172292400-172298600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr2:172292400-172299400	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:172292400-172301200	Strong transcription	Placenta	Placenta
27	chr2:172292400-172301800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:172292600-172297000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:172292600-172297200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:172292600-172297400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:172292600-172298000	Strong transcription	Primary B cells from cord blood	blood
32	chr2:172292600-172298600	Strong transcription	Primary hematopoietic stem cells	blood
33	chr2:172292600-172301200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr2:172292600-172301400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:172292600-172302000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:172292600-172302600	Strong transcription	Liver	Liver
37	chr2:172292600-172302800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:172292600-172307200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:172292600-172311600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:172292600-172312000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:172292600-172317600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:172292600-172320400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:172292800-172298400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr2:172292800-172300200	Strong transcription	K562	blood
45	chr2:172292800-172301400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:172292800-172301600	Strong transcription	Adipose Nuclei	Adipose
47	chr2:172292800-172302600	Strong transcription	Fetal Thymus	thymus
48	chr2:172292800-172303000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr2:172293000-172297000	Strong transcription	A549	lung
50	chr2:172293000-172297400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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