Variant report

Variant	rs56932035
Chromosome Location	chr4:48400958-48400959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10517225	0.86[EUR][1000 genomes]
rs11932126	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13134960	0.86[EUR][1000 genomes]
rs1565218	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1565221	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861344	0.86[EUR][1000 genomes]
rs16861347	0.86[EUR][1000 genomes]
rs17609521	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609535	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609556	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609740	0.86[EUR][1000 genomes]
rs17609761	0.86[EUR][1000 genomes]
rs17655725	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17655741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171577	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581223	0.86[EUR][1000 genomes]
rs4695378	0.95[EUR][1000 genomes]
rs55730515	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55986500	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57676508	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58038882	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58244627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58707818	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60891069	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810911	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6847014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852840	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73814762	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814763	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814782	0.86[EUR][1000 genomes]
rs7693468	0.92[AMR][1000 genomes];1.00[EUR][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:120 , 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	chr4:48387600-48401000	Weak transcription	HMEC	breast
23	chr4:48387600-48431400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:48387800-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:48388000-48404400	Weak transcription	HepG2	liver
26	chr4:48388000-48405200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:48388200-48405400	Weak transcription	NHEK	skin
28	chr4:48388400-48401200	Weak transcription	K562	blood
29	chr4:48391000-48412600	Weak transcription	Brain Substantia Nigra	brain
30	chr4:48391000-48424800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr4:48391200-48405400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:48391200-48423200	Weak transcription	NHLF	lung
33	chr4:48391200-48424600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:48391400-48403600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:48391600-48434000	Weak transcription	Fetal Heart	heart
36	chr4:48395600-48404600	Weak transcription	Thymus	Thymus
37	chr4:48395600-48405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:48395600-48405000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:48395600-48424800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:48395800-48403000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:48395800-48404200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:48396000-48404600	Weak transcription	Fetal Stomach	stomach
43	chr4:48396000-48404800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:48396200-48422000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr4:48396400-48412400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr4:48397000-48424800	Weak transcription	Stomach Mucosa	stomach
47	chr4:48397400-48424000	Weak transcription	HUVEC	blood vessel
48	chr4:48398800-48404800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr4:48398800-48405000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:48398800-48423200	Weak transcription	GM12878-XiMat	blood

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