Variant report

Variant	rs4303742
Chromosome Location	chr2:191356300-191356301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11683734	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687958	1.00[ASN][1000 genomes]
rs11688236	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105680	1.00[ASN][1000 genomes]
rs16832766	1.00[CEU][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745140	1.00[ASN][1000 genomes]
rs2736620	1.00[ASN][1000 genomes]
rs4146925	0.88[CEU][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4241290	0.88[CEU][hapmap];0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340551	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434029	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4468843	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513326	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536676	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585059	0.88[CEU][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853511	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853704	1.00[ASN][1000 genomes]
rs4853706	1.00[ASN][1000 genomes]
rs4853707	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs4853715	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs5004460	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55942739	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101840	1.00[ASN][1000 genomes]
rs56278738	1.00[ASN][1000 genomes]
rs6434392	0.87[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434393	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6434398	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707244	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728161	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736474	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744546	1.00[ASN][1000 genomes]
rs6751217	0.81[AFR][1000 genomes]
rs6755804	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570284	1.00[ASN][1000 genomes]
rs7586287	0.89[CEU][hapmap];0.88[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595579	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600297	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603228	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605008	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967833	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33134	chr2:191318791-191365710	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191332800-191364200	Weak transcription	Spleen	Spleen
2	chr2:191334200-191370200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:191334800-191394800	Weak transcription	HSMMtube	muscle
4	chr2:191335400-191366200	Weak transcription	Hela-S3	cervix
5	chr2:191343000-191372000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:191343400-191373800	Weak transcription	Colonic Mucosa	Colon
7	chr2:191346800-191364200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:191346800-191364800	Weak transcription	Gastric	stomach
9	chr2:191347000-191364600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:191347400-191364200	Weak transcription	Stomach Mucosa	stomach
11	chr2:191349000-191362200	Weak transcription	A549	lung
12	chr2:191349000-191366200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:191349600-191394600	Weak transcription	NHLF	lung
14	chr2:191351200-191362000	Weak transcription	Brain Angular Gyrus	brain
15	chr2:191351200-191364200	Weak transcription	Right Ventricle	heart
16	chr2:191351200-191364800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:191351200-191369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:191351200-191373400	Weak transcription	Small Intestine	intestine
19	chr2:191351400-191362000	Weak transcription	Brain Substantia Nigra	brain
20	chr2:191351400-191385400	Weak transcription	NHEK	skin
21	chr2:191352000-191356600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr2:191352000-191364400	Weak transcription	Placenta	Placenta
23	chr2:191352200-191380600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:191352400-191381600	Weak transcription	Osteobl	bone
25	chr2:191352600-191356400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:191353000-191356600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:191353000-191356600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr2:191353000-191357200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr2:191353000-191357200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:191353200-191356600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:191353400-191356400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:191353400-191356600	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:191353400-191356600	Strong transcription	Fetal Stomach	stomach
34	chr2:191353600-191356600	Strong transcription	Fetal Intestine Large	intestine
35	chr2:191353600-191356600	Strong transcription	Thymus	Thymus
36	chr2:191353600-191356600	Strong transcription	GM12878-XiMat	blood
37	chr2:191353600-191357000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:191353600-191357000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:191353600-191357600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr2:191353800-191358200	Strong transcription	Fetal Lung	lung
41	chr2:191354000-191356600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:191354000-191356600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:191354200-191356800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:191354400-191356600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:191354600-191356400	Strong transcription	Brain Anterior Caudate	brain
46	chr2:191354600-191356800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:191354600-191357000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:191354600-191357600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:191354600-191394600	Weak transcription	HSMM	muscle
50	chr2:191354800-191357200	Strong transcription	Dnd41	blood

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