Variant report

Variant	rs11932591
Chromosome Location	chr4:48401283-48401284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11931685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11944094	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11945332	1.00[AMR][1000 genomes]
rs11946788	1.00[AMR][1000 genomes]
rs28692953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34304088	1.00[AMR][1000 genomes]
rs6822588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6823580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6856469	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv528084	chr4:48387851-48413919	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 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	chr4:48355000-48412600	Weak transcription	Aorta	Aorta
2	chr4:48363400-48405400	Weak transcription	Right Ventricle	heart
3	chr4:48372600-48426800	Weak transcription	Small Intestine	intestine
4	chr4:48377800-48405000	Weak transcription	Esophagus	oesophagus
5	chr4:48377800-48423800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:48378000-48423800	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:48378400-48405000	Weak transcription	Gastric	stomach
8	chr4:48378400-48405200	Weak transcription	Psoas Muscle	Psoas
9	chr4:48381400-48405000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:48381600-48405000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:48382200-48431800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:48383000-48405200	Weak transcription	Spleen	Spleen
13	chr4:48383200-48412000	Weak transcription	Fetal Brain Male	brain
14	chr4:48384200-48403000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:48385000-48404800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:48385200-48405000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:48385200-48405000	Weak transcription	Lung	lung
18	chr4:48385200-48405400	Weak transcription	Pancreas	Pancrea
19	chr4:48385400-48422000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:48387000-48422200	Weak transcription	Colonic Mucosa	Colon
21	chr4:48387400-48424800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:48387600-48431400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:48387800-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:48388000-48404400	Weak transcription	HepG2	liver
25	chr4:48388000-48405200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:48388200-48405400	Weak transcription	NHEK	skin
27	chr4:48391000-48412600	Weak transcription	Brain Substantia Nigra	brain
28	chr4:48391000-48424800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:48391200-48405400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:48391200-48423200	Weak transcription	NHLF	lung
31	chr4:48391200-48424600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:48391400-48403600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:48391600-48434000	Weak transcription	Fetal Heart	heart
34	chr4:48395600-48404600	Weak transcription	Thymus	Thymus
35	chr4:48395600-48405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:48395600-48405000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:48395600-48424800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:48395800-48403000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:48395800-48404200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:48396000-48404600	Weak transcription	Fetal Stomach	stomach
41	chr4:48396000-48404800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr4:48396200-48422000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:48396400-48412400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:48397000-48424800	Weak transcription	Stomach Mucosa	stomach
45	chr4:48397400-48424000	Weak transcription	HUVEC	blood vessel
46	chr4:48398800-48404800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr4:48398800-48405000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:48398800-48423200	Weak transcription	GM12878-XiMat	blood
49	chr4:48399000-48405000	Weak transcription	Osteobl	bone
50	chr4:48399000-48422000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links