Variant report

Variant	rs2592102
Chromosome Location	chr2:233726772-233726773
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233725493..233728211-chr2:233788384..233791443,3	K562	blood:
2	chr2:233723605..233727098-chr2:233736700..233739372,3	MCF-7	breast:
3	chr2:233725993..233729161-chr2:233734807..233736601,3	K562	blood:

Variant related genes	Relation type
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1022330	0.81[EUR][1000 genomes]
rs1044480	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10933409	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10933411	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10933412	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11555646	0.81[EUR][1000 genomes]
rs11676216	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11679079	0.81[EUR][1000 genomes]
rs11687128	0.81[EUR][1000 genomes]
rs12474040	0.81[EUR][1000 genomes]
rs12478564	0.81[EUR][1000 genomes]
rs12694917	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12987513	0.82[EUR][1000 genomes]
rs12990821	0.81[EUR][1000 genomes]
rs13003675	0.80[EUR][1000 genomes]
rs13004406	0.81[EUR][1000 genomes]
rs13008942	0.81[EUR][1000 genomes]
rs13011298	0.81[EUR][1000 genomes]
rs13013142	0.81[EUR][1000 genomes]
rs13021246	0.81[EUR][1000 genomes]
rs13035829	0.81[EUR][1000 genomes]
rs1446308	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1446310	0.87[ASN][1000 genomes]
rs1446311	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1801251	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1867778	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1947105	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2044449	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2100053	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2250654	0.95[ASN][1000 genomes]
rs2250665	0.95[ASN][1000 genomes]
rs2305137	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305141	0.87[ASN][1000 genomes]
rs2592105	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2592113	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2592115	0.98[ASN][1000 genomes]
rs2592116	0.98[ASN][1000 genomes]
rs2592117	0.98[ASN][1000 genomes]
rs2592126	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2674839	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2675957	0.94[ASN][1000 genomes]
rs2675966	0.98[ASN][1000 genomes]
rs2675967	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2675971	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675973	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2675974	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs283466	0.87[ASN][1000 genomes]
rs283468	0.85[ASN][1000 genomes]
rs283469	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs283471	0.85[ASN][1000 genomes]
rs283474	0.84[ASN][1000 genomes]
rs283475	0.84[ASN][1000 genomes]
rs283476	0.82[ASN][1000 genomes]
rs283477	0.80[ASN][1000 genomes]
rs283484	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs283486	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs33980184	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35085837	0.82[EUR][1000 genomes]
rs35212961	0.81[EUR][1000 genomes]
rs35362030	0.81[EUR][1000 genomes]
rs36007169	0.80[EUR][1000 genomes]
rs3816334	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817311	0.81[EUR][1000 genomes]
rs4517962	0.81[EUR][1000 genomes]
rs4973053	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4973054	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4973055	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4973056	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4973560	0.85[ASN][1000 genomes]
rs4973561	0.87[ASN][1000 genomes]
rs56777991	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6437074	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66549961	0.81[EUR][1000 genomes]
rs67013068	0.81[EUR][1000 genomes]
rs6719061	0.88[ASN][1000 genomes]
rs6724117	0.80[EUR][1000 genomes]
rs6732136	0.81[EUR][1000 genomes]
rs6733151	0.81[EUR][1000 genomes]
rs6738386	0.81[EUR][1000 genomes]
rs6745879	0.81[EUR][1000 genomes]
rs6746294	0.81[EUR][1000 genomes]
rs6748027	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6761324	0.81[EUR][1000 genomes]
rs709933	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs709934	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs709938	0.92[ASN][1000 genomes]
rs71421663	0.81[EUR][1000 genomes]
rs737028	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7558609	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7562712	0.81[EUR][1000 genomes]
rs7568385	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7573208	0.88[ASN][1000 genomes]
rs7587309	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7589201	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591176	0.81[EUR][1000 genomes]
rs7606090	0.80[EUR][1000 genomes]
rs778166	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs778338	0.98[ASN][1000 genomes]
rs778339	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs778340	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs778368	0.95[ASN][1000 genomes]
rs809639	0.98[ASN][1000 genomes]
rs812383	0.98[ASN][1000 genomes]
rs895430	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9653383	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs991873	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233701000-233729200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr2:233704600-233728000	Strong transcription	Primary T cells from cord blood	blood
4	chr2:233705600-233727800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:233712000-233728200	Strong transcription	Fetal Stomach	stomach
6	chr2:233718600-233727800	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:233718600-233727800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:233718800-233726800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:233718800-233727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:233719800-233726800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr2:233720000-233727000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:233720800-233727800	Strong transcription	Fetal Muscle Leg	muscle
13	chr2:233721200-233727800	Strong transcription	Brain Anterior Caudate	brain
14	chr2:233721400-233727800	Genic enhancers	Fetal Intestine Small	intestine
15	chr2:233722400-233727400	Weak transcription	Fetal Heart	heart
16	chr2:233722400-233728200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:233722400-233728400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:233722800-233738000	Weak transcription	Stomach Mucosa	stomach
19	chr2:233723000-233733200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:233723000-233740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:233723200-233728600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:233723200-233733200	Weak transcription	Small Intestine	intestine
23	chr2:233723200-233736600	Weak transcription	Colonic Mucosa	Colon
24	chr2:233723200-233738600	Weak transcription	K562	blood
25	chr2:233723600-233728000	Weak transcription	NH-A	brain
26	chr2:233723600-233728400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:233723600-233729800	Weak transcription	HUVEC	blood vessel
28	chr2:233723600-233734200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:233723600-233735200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:233723600-233736400	Weak transcription	Right Ventricle	heart
31	chr2:233723600-233736600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:233724000-233726800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:233724000-233728400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:233724000-233729200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:233724000-233729600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:233724000-233734600	Weak transcription	Brain Substantia Nigra	brain
37	chr2:233724000-233736000	Weak transcription	Fetal Brain Male	brain
38	chr2:233724200-233732200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:233724200-233733800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:233724200-233738600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:233724400-233734200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:233724600-233726800	Enhancers	Fetal Intestine Large	intestine
43	chr2:233724600-233728200	Weak transcription	NHDF-Ad	bronchial
44	chr2:233724600-233729600	Weak transcription	Aorta	Aorta
45	chr2:233724600-233734200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:233724600-233738600	Weak transcription	Esophagus	oesophagus
47	chr2:233724800-233727600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:233724800-233732800	Weak transcription	Hela-S3	cervix
49	chr2:233724800-233734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:233725000-233728800	Weak transcription	GM12878-XiMat	blood

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