Variant report

Variant	rs4450859
Chromosome Location	chr3:119573681-119573682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11921053	0.84[AMR][1000 genomes]
rs12494560	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13314595	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1579031	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16830689	0.82[AMR][1000 genomes]
rs1719889	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2037547	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2461827	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28516957	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4072520	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56126162	0.82[AMR][1000 genomes]
rs66650215	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6769435	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6770314	0.92[AMR][1000 genomes]
rs6771023	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6774693	0.81[AMR][1000 genomes]
rs6775397	0.92[AMR][1000 genomes]
rs6779828	0.82[AMR][1000 genomes]
rs6790751	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6795874	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6802301	0.92[AMR][1000 genomes]
rs7613197	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7617372	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7620750	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7624540	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7636600	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7649661	0.93[AMR][1000 genomes]
rs7652172	0.85[AMR][1000 genomes]
rs9289138	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9851174	0.92[AMR][1000 genomes]
rs9859778	0.88[AMR][1000 genomes]
rs9879992	0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119529600-119582000	Weak transcription	Spleen	Spleen
2	chr3:119536600-119576000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:119536600-119576400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:119539000-119576400	Weak transcription	Ovary	ovary
5	chr3:119540400-119574800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:119540400-119576600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:119540800-119577000	Weak transcription	Aorta	Aorta
8	chr3:119541000-119581600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:119541200-119587000	Weak transcription	Gastric	stomach
10	chr3:119542400-119581200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:119542600-119581600	Weak transcription	HUVEC	blood vessel
12	chr3:119542800-119575000	Weak transcription	Fetal Kidney	kidney
13	chr3:119545000-119576400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:119545200-119575000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:119545200-119575000	Weak transcription	Adipose Nuclei	Adipose
16	chr3:119545200-119575400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr3:119545200-119583400	Weak transcription	Brain Angular Gyrus	brain
18	chr3:119545800-119576400	Weak transcription	Brain Germinal Matrix	brain
19	chr3:119545800-119581600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:119546000-119575000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr3:119546000-119576400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:119546000-119663400	Weak transcription	Lung	lung
23	chr3:119546200-119575000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr3:119546400-119575200	Weak transcription	Liver	Liver
25	chr3:119546400-119580400	Weak transcription	HepG2	liver
26	chr3:119548600-119576600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:119548600-119581600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr3:119548800-119575000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:119549000-119577200	Weak transcription	Small Intestine	intestine
30	chr3:119549200-119574600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:119549200-119581600	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:119549600-119575200	Weak transcription	Fetal Brain Male	brain
33	chr3:119551200-119576200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:119551200-119576800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:119551400-119594600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:119551800-119580600	Weak transcription	NH-A	brain
37	chr3:119551800-119581400	Weak transcription	Osteobl	bone
38	chr3:119552000-119575000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:119552000-119575600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:119552200-119576400	Weak transcription	A549	lung
41	chr3:119552200-119576600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:119552200-119577000	Weak transcription	HSMMtube	muscle
43	chr3:119552200-119582000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:119554000-119576000	Weak transcription	Fetal Intestine Large	intestine
45	chr3:119555200-119575000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:119557400-119576200	Weak transcription	NHEK	skin
47	chr3:119560000-119576200	Weak transcription	HMEC	breast
48	chr3:119560200-119576000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:119560400-119576400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr3:119560400-119576800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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