Variant report

Variant	rs72907134
Chromosome Location	chr18:44406047-44406048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11872317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872376	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872476	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11873793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874300	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874423	0.81[AMR][1000 genomes]
rs11875032	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875655	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11875703	0.91[AFR][1000 genomes]
rs11875918	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876274	0.91[AFR][1000 genomes]
rs11876752	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877373	0.91[AFR][1000 genomes]
rs11877429	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877540	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877650	0.82[AFR][1000 genomes]
rs11877721	0.91[AFR][1000 genomes]
rs11878114	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36129965	1.00[ASN][1000 genomes]
rs3893054	1.00[ASN][1000 genomes]
rs55664322	0.91[AFR][1000 genomes]
rs55752024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819334	0.91[AFR][1000 genomes]
rs55890037	1.00[ASN][1000 genomes]
rs56030315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56055727	1.00[ASN][1000 genomes]
rs56068993	1.00[ASN][1000 genomes]
rs56202233	1.00[ASN][1000 genomes]
rs56333835	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388142	1.00[ASN][1000 genomes]
rs56400973	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7229231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903209	1.00[ASN][1000 genomes]
rs72903212	1.00[ASN][1000 genomes]
rs72903231	1.00[ASN][1000 genomes]
rs72903232	1.00[ASN][1000 genomes]
rs72903376	1.00[ASN][1000 genomes]
rs72903390	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903401	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905209	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905249	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905251	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905265	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907112	0.91[AFR][1000 genomes]
rs72907114	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907128	0.91[AFR][1000 genomes]
rs72907130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907154	1.00[ASN][1000 genomes]
rs72907155	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909171	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909189	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909191	0.91[AFR][1000 genomes]
rs72909195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909201	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911104	0.91[AFR][1000 genomes]
rs72911106	0.91[AFR][1000 genomes]
rs72911111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913063	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915074	0.91[AFR][1000 genomes]
rs72915084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917125	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919298	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921352	1.00[ASN][1000 genomes]
rs72921363	1.00[ASN][1000 genomes]
rs72921366	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv909598	chr18:44291419-44422661	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv909602	chr18:44294722-44422661	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv909605	chr18:44316719-44422661	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv909606	chr18:44318548-44422661	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv909607	chr18:44320836-44422661	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv909608	chr18:44335724-44422661	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44376600-44408000	Weak transcription	GM12878-XiMat	blood
2	chr18:44381400-44433000	Weak transcription	Gastric	stomach
3	chr18:44382200-44437000	Weak transcription	Right Ventricle	heart
4	chr18:44383600-44412000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:44386200-44407000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:44386400-44407200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr18:44386800-44417000	Weak transcription	Brain Angular Gyrus	brain
8	chr18:44388000-44408200	Weak transcription	Thymus	Thymus
9	chr18:44389400-44407800	Weak transcription	Aorta	Aorta
10	chr18:44390000-44407000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:44390200-44408800	Weak transcription	HSMMtube	muscle
12	chr18:44390600-44406600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr18:44391000-44432400	Weak transcription	Fetal Stomach	stomach
14	chr18:44391200-44407200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr18:44391200-44414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr18:44391400-44406800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr18:44391600-44407200	Weak transcription	Brain Anterior Caudate	brain
18	chr18:44391800-44406800	Weak transcription	HUVEC	blood vessel
19	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
20	chr18:44392000-44406200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr18:44392200-44407000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr18:44392600-44431400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
24	chr18:44393000-44406200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr18:44393200-44409000	Weak transcription	Ovary	ovary
26	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon
27	chr18:44393400-44408000	Weak transcription	Lung	lung
28	chr18:44394400-44434000	Weak transcription	Fetal Kidney	kidney
29	chr18:44394800-44408200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:44396600-44410000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
33	chr18:44397400-44407600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr18:44397400-44413600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr18:44397600-44406200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr18:44397600-44407200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr18:44397600-44407200	Weak transcription	Fetal Thymus	thymus
38	chr18:44397800-44406600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr18:44397800-44410600	Weak transcription	NHEK	skin
40	chr18:44398400-44407000	Weak transcription	Fetal Lung	lung
41	chr18:44398600-44406600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr18:44398600-44407400	Weak transcription	Colon Smooth Muscle	Colon
43	chr18:44398600-44422400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:44399000-44406800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr18:44399000-44407200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr18:44399000-44407400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr18:44399200-44406200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr18:44399200-44407800	Weak transcription	K562	blood
49	chr18:44399200-44434000	Weak transcription	Fetal Brain Female	brain
50	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links