Variant report

Variant	rs72907114
Chromosome Location	chr18:44398960-44398961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11872317	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872376	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872476	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11873793	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874218	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874300	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875032	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875527	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875655	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11875918	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876752	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877429	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877540	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878114	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878135	0.92[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]
rs55752024	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55890037	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56030315	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56055727	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56068993	1.00[ASN][1000 genomes]
rs56202233	1.00[ASN][1000 genomes]
rs56333835	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388142	1.00[ASN][1000 genomes]
rs56400973	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7229231	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903209	1.00[ASN][1000 genomes]
rs72903212	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72903231	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72903232	1.00[ASN][1000 genomes]
rs72903376	1.00[ASN][1000 genomes]
rs72903390	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903401	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905209	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905249	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905251	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905265	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905274	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905289	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905292	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907118	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907130	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907134	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907154	1.00[ASN][1000 genomes]
rs72907155	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907196	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909171	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909189	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909195	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909201	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911111	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911118	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913063	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915084	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917125	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917151	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919213	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919256	0.83[AMR][1000 genomes]
rs72919298	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921352	1.00[ASN][1000 genomes]
rs72921363	1.00[ASN][1000 genomes]
rs72921366	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription 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	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
5	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
6	nsv909601	chr18:44294722-44400621	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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:81 , 50 per page) page: 1 2

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	chr18:44382400-44402400	Weak transcription	Left Ventricle	heart
5	chr18:44383600-44412000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:44384200-44400600	Weak transcription	Primary B cells from cord blood	blood
7	chr18:44386200-44404600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:44386200-44407000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:44386400-44407200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:44386800-44417000	Weak transcription	Brain Angular Gyrus	brain
11	chr18:44387200-44400800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr18:44387800-44406000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:44388000-44408200	Weak transcription	Thymus	Thymus
14	chr18:44389400-44407800	Weak transcription	Aorta	Aorta
15	chr18:44389600-44399800	Weak transcription	Primary T cells from cord blood	blood
16	chr18:44390000-44407000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:44390200-44408800	Weak transcription	HSMMtube	muscle
18	chr18:44390400-44400200	Weak transcription	Dnd41	blood
19	chr18:44390600-44399800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr18:44390600-44406600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr18:44390800-44405400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:44391000-44400600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:44391000-44402000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr18:44391000-44432400	Weak transcription	Fetal Stomach	stomach
25	chr18:44391200-44400200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr18:44391200-44407200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr18:44391200-44414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:44391400-44406800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr18:44391600-44399800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr18:44391600-44400800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr18:44391600-44407200	Weak transcription	Brain Anterior Caudate	brain
32	chr18:44391800-44406800	Weak transcription	HUVEC	blood vessel
33	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
34	chr18:44392000-44405600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr18:44392000-44406200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr18:44392200-44407000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr18:44392600-44405600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr18:44392600-44431400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
40	chr18:44392800-44400600	Weak transcription	Liver	Liver
41	chr18:44393000-44406200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr18:44393200-44400000	Weak transcription	Fetal Intestine Large	intestine
43	chr18:44393200-44401000	Weak transcription	Fetal Muscle Leg	muscle
44	chr18:44393200-44403800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr18:44393200-44405400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr18:44393200-44409000	Weak transcription	Ovary	ovary
47	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon
48	chr18:44393400-44408000	Weak transcription	Lung	lung
49	chr18:44394400-44434000	Weak transcription	Fetal Kidney	kidney
50	chr18:44394800-44401000	Weak transcription	Psoas Muscle	Psoas

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