Variant report

Variant	rs513775
Chromosome Location	chr18:44396334-44396335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10070	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10164108	0.80[EUR][1000 genomes]
rs10502879	0.89[CEU][hapmap]
rs10853544	0.84[ASN][1000 genomes]
rs10853545	0.92[CHD][hapmap];0.98[GIH][hapmap];0.84[ASN][1000 genomes]
rs10853547	0.92[CHD][hapmap];0.98[GIH][hapmap]
rs11659693	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11660085	0.96[CEU][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.89[MKK][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs12386118	0.83[EUR][1000 genomes]
rs1465722	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs1539878	0.92[CHD][hapmap];0.98[GIH][hapmap]
rs1539881	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1789152	0.83[ASN][1000 genomes]
rs1893427	0.85[ASN][1000 genomes]
rs1970668	0.96[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes]
rs2010834	0.92[CHD][hapmap];0.98[GIH][hapmap]
rs2032215	0.92[CHD][hapmap];0.98[GIH][hapmap];0.85[ASN][1000 genomes]
rs2156049	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2156050	0.87[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2164104	0.96[CEU][hapmap]
rs2187091	0.86[EUR][1000 genomes]
rs2187092	0.92[CHD][hapmap];0.98[GIH][hapmap]
rs2571028	0.86[JPT][hapmap]
rs2576040	0.92[CEU][hapmap]
rs2576042	0.92[CEU][hapmap]
rs2576050	0.96[CEU][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap]
rs2956975	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3892820	0.83[ASN][1000 genomes]
rs4258717	0.83[ASN][1000 genomes]
rs477826	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs478820	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs487386	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4890341	0.92[CHD][hapmap];0.93[GIH][hapmap];0.85[ASN][1000 genomes]
rs4890343	0.96[CEU][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs4890347	0.88[EUR][1000 genomes]
rs4890698	1.00[CEU][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4890700	0.84[EUR][1000 genomes]
rs4890704	0.88[EUR][1000 genomes]
rs4890706	0.81[EUR][1000 genomes]
rs501062	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs501882	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs504668	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs509647	0.84[ASN][1000 genomes]
rs512699	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs514371	0.84[EUR][1000 genomes]
rs530205	1.00[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs541634	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs545344	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs553456	0.92[CHD][hapmap];0.98[GIH][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs578146	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs578451	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58993513	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs590923	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs593340	1.00[CEU][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs605487	0.85[ASN][1000 genomes]
rs607780	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs612519	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs616900	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs620228	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs626217	0.87[CHD][hapmap];0.98[GIH][hapmap];0.83[ASN][1000 genomes]
rs629097	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs641366	1.00[CEU][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs642897	0.95[CHD][hapmap];0.98[GIH][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs644731	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs646128	1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs649076	0.90[CHD][hapmap];0.98[GIH][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6507709	0.87[CHD][hapmap];0.98[GIH][hapmap];0.83[ASN][1000 genomes]
rs658756	0.92[CHD][hapmap];0.98[GIH][hapmap];0.85[ASN][1000 genomes]
rs680018	1.00[CEU][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs693503	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs695001	0.81[ASN][1000 genomes]
rs7234570	0.83[ASN][1000 genomes]
rs7240239	0.92[CHD][hapmap];0.98[GIH][hapmap];0.83[ASN][1000 genomes]
rs7244778	0.92[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap]
rs8086286	1.00[CEU][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8094654	0.96[CEU][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.88[MKK][hapmap];0.84[TSI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8095373	0.95[CHD][hapmap];0.98[GIH][hapmap]
rs8096263	0.86[EUR][1000 genomes]
rs892586	0.96[CEU][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs9304336	1.00[CEU][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9916891	0.94[EUR][1000 genomes]
rs9945443	0.81[ASN][1000 genomes]
rs9947131	0.83[EUR][1000 genomes]
rs9948103	0.86[EUR][1000 genomes]
rs9948405	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9954336	1.00[CEU][hapmap];0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9959877	0.86[EUR][1000 genomes]
rs9960463	0.86[EUR][1000 genomes]
rs9962523	0.83[ASN][1000 genomes]
rs9966646	0.84[EUR][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:58 , 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	chr18:44383600-44398800	Weak transcription	HSMM	muscle
6	chr18:44383600-44412000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:44384200-44400600	Weak transcription	Primary B cells from cord blood	blood
8	chr18:44385600-44398200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr18:44386200-44404600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:44386200-44407000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:44386400-44407200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr18:44386800-44417000	Weak transcription	Brain Angular Gyrus	brain
13	chr18:44387200-44400800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:44387800-44406000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:44388000-44408200	Weak transcription	Thymus	Thymus
16	chr18:44389400-44407800	Weak transcription	Aorta	Aorta
17	chr18:44389600-44399800	Weak transcription	Primary T cells from cord blood	blood
18	chr18:44390000-44407000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:44390200-44408800	Weak transcription	HSMMtube	muscle
20	chr18:44390400-44400200	Weak transcription	Dnd41	blood
21	chr18:44390600-44399800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr18:44390600-44406600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr18:44390800-44405400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:44391000-44400600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr18:44391000-44402000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr18:44391000-44432400	Weak transcription	Fetal Stomach	stomach
27	chr18:44391200-44400200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr18:44391200-44407200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr18:44391200-44414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:44391400-44406800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr18:44391600-44399800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr18:44391600-44400800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr18:44391600-44407200	Weak transcription	Brain Anterior Caudate	brain
34	chr18:44391800-44406800	Weak transcription	HUVEC	blood vessel
35	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
36	chr18:44392000-44405600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr18:44392000-44406200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr18:44392200-44407000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr18:44392600-44397800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr18:44392600-44405600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr18:44392600-44431400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
43	chr18:44392800-44400600	Weak transcription	Liver	Liver
44	chr18:44393000-44406200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr18:44393200-44400000	Weak transcription	Fetal Intestine Large	intestine
46	chr18:44393200-44401000	Weak transcription	Fetal Muscle Leg	muscle
47	chr18:44393200-44403800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:44393200-44405400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr18:44393200-44409000	Weak transcription	Ovary	ovary
50	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon

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