Variant report

Variant	rs11081717
Chromosome Location	chr18:29406059-29406060
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10468902	1.00[JPT][hapmap]
rs11081718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11081719	0.92[ASN][1000 genomes]
rs11081720	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11081722	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11081723	0.87[ASN][1000 genomes]
rs11081724	0.87[ASN][1000 genomes]
rs11081729	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11659244	0.87[ASN][1000 genomes]
rs11660557	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11661525	0.85[ASN][1000 genomes]
rs11662341	1.00[JPT][hapmap]
rs11662697	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11665424	0.86[ASN][1000 genomes]
rs11877256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12604691	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12605636	0.93[ASN][1000 genomes]
rs12606354	0.87[ASN][1000 genomes]
rs12606379	0.87[ASN][1000 genomes]
rs12606882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12606962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12607786	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12608051	0.92[ASN][1000 genomes]
rs17741796	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs17741967	0.89[ASN][1000 genomes]
rs17742014	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs17742105	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs17804129	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2276144	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2291239	0.90[ASN][1000 genomes]
rs28654480	0.90[ASN][1000 genomes]
rs34180462	0.87[ASN][1000 genomes]
rs35275842	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3737373	0.91[ASN][1000 genomes]
rs3737374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3810001	0.92[ASN][1000 genomes]
rs3925536	0.91[ASN][1000 genomes]
rs4539674	0.84[ASN][1000 genomes]
rs4545895	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs55706254	0.89[ASN][1000 genomes]
rs56303347	0.92[ASN][1000 genomes]
rs58098304	0.92[ASN][1000 genomes]
rs614342	1.00[JPT][hapmap]
rs62093860	0.87[ASN][1000 genomes]
rs62093864	0.85[ASN][1000 genomes]
rs62093866	0.85[ASN][1000 genomes]
rs62093867	0.84[ASN][1000 genomes]
rs62093868	0.87[ASN][1000 genomes]
rs62093869	0.86[ASN][1000 genomes]
rs62093873	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62093900	0.87[ASN][1000 genomes]
rs62093901	0.85[ASN][1000 genomes]
rs62093903	0.83[ASN][1000 genomes]
rs62095507	0.92[ASN][1000 genomes]
rs62095508	0.90[ASN][1000 genomes]
rs62095509	0.90[ASN][1000 genomes]
rs62095510	0.90[ASN][1000 genomes]
rs62095543	0.89[ASN][1000 genomes]
rs62095544	0.87[ASN][1000 genomes]
rs62095545	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62095546	0.89[ASN][1000 genomes]
rs62095547	0.87[ASN][1000 genomes]
rs62095548	0.88[ASN][1000 genomes]
rs6506947	0.88[ASN][1000 genomes]
rs7226615	0.95[ASN][1000 genomes]
rs7226713	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7228817	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7231114	1.00[JPT][hapmap]
rs7233234	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7234341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7234798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7237879	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7239629	0.92[ASN][1000 genomes]
rs72930222	0.89[ASN][1000 genomes]
rs8084869	1.00[JPT][hapmap]
rs930018	1.00[JPT][hapmap]
rs9635917	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9966530	0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv2247	chr18:29370842-29415712	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29394400-29418200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:29399400-29407800	Weak transcription	Placenta	Placenta
3	chr18:29399600-29409000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr18:29399800-29408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr18:29399800-29409400	Weak transcription	HSMMtube	muscle
6	chr18:29400200-29415600	Weak transcription	Brain Angular Gyrus	brain
7	chr18:29401000-29409400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr18:29401600-29408600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:29401800-29407400	Weak transcription	Fetal Intestine Small	intestine
10	chr18:29401800-29407800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:29401800-29409000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr18:29401800-29409400	Weak transcription	HUVEC	blood vessel
13	chr18:29402000-29406600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:29402000-29406800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:29402000-29407000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:29402000-29408600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:29402000-29408600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr18:29402000-29408800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr18:29402000-29408800	Weak transcription	Left Ventricle	heart
20	chr18:29402000-29409200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr18:29402000-29409400	Weak transcription	Fetal Lung	lung
22	chr18:29402000-29415400	Weak transcription	Right Ventricle	heart
23	chr18:29402200-29408600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr18:29402200-29408600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:29402200-29408800	Weak transcription	Adipose Nuclei	Adipose
26	chr18:29402200-29408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr18:29402200-29408800	Weak transcription	Fetal Intestine Large	intestine
28	chr18:29402200-29409000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr18:29402200-29409200	Weak transcription	HepG2	liver
30	chr18:29402200-29409400	Weak transcription	Gastric	stomach
31	chr18:29402200-29414600	Weak transcription	Fetal Heart	heart
32	chr18:29402200-29417200	Weak transcription	Pancreas	Pancrea
33	chr18:29402400-29408800	Weak transcription	K562	blood
34	chr18:29402400-29415400	Weak transcription	Ovary	ovary
35	chr18:29402800-29409400	Weak transcription	Lung	lung
36	chr18:29403600-29408800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:29403800-29409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:29404800-29407400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr18:29404800-29407400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr18:29405200-29413600	Weak transcription	Fetal Stomach	stomach
41	chr18:29405400-29407200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:29405400-29408800	Weak transcription	Liver	Liver
43	chr18:29405400-29415200	Weak transcription	Small Intestine	intestine
44	chr18:29405600-29406200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr18:29405600-29406200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr18:29405600-29406200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr18:29405600-29406600	Enhancers	GM12878-XiMat	blood
48	chr18:29405600-29406800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr18:29405600-29407200	Weak transcription	Primary T cells from cord blood	blood
50	chr18:29405600-29409400	Weak transcription	H9 Cell Line	embryonic stem cell

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