Variant report

Variant	rs7239098
Chromosome Location	chr18:29432278-29432279
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10468902	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1074636	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10853415	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10853416	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11081730	0.85[EUR][1000 genomes]
rs11662341	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12604640	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12607426	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12957331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12969126	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1680643	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1786764	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1815822	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35203717	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3826612	0.84[ASN][1000 genomes]
rs3865397	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4513172	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5011500	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs521491	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs549818	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs563247	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614342	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs639595	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6506944	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6506945	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6506946	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675570	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67874605	0.86[EUR][1000 genomes]
rs7229979	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7230326	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7239951	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8084869	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8088396	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8094542	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs930018	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9958368	0.80[EUR][1000 genomes]
rs9966530	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][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	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29408000-29460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:29409000-29439000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr18:29409000-29456600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:29409800-29466600	Weak transcription	Gastric	stomach
8	chr18:29413200-29437200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:29413800-29456600	Weak transcription	Spleen	Spleen
10	chr18:29414200-29444800	Strong transcription	Fetal Thymus	thymus
11	chr18:29414400-29448200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr18:29415800-29461800	Weak transcription	Fetal Heart	heart
13	chr18:29416200-29456600	Weak transcription	Aorta	Aorta
14	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:29418400-29454800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:29418400-29470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr18:29418600-29436000	Weak transcription	Pancreas	Pancrea
18	chr18:29418600-29454400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:29418600-29456600	Weak transcription	Right Ventricle	heart
20	chr18:29418800-29454800	Weak transcription	Colonic Mucosa	Colon
21	chr18:29418800-29456600	Weak transcription	NHEK	skin
22	chr18:29419000-29433400	Weak transcription	A549	lung
23	chr18:29419000-29433600	Weak transcription	HepG2	liver
24	chr18:29419000-29460400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:29419000-29461800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr18:29419400-29458600	Weak transcription	NHLF	lung
27	chr18:29421600-29448200	Strong transcription	Dnd41	blood
28	chr18:29421800-29434000	Strong transcription	Fetal Intestine Large	intestine
29	chr18:29421800-29439800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr18:29421800-29448400	Strong transcription	Adipose Nuclei	Adipose
31	chr18:29421800-29455400	Strong transcription	Liver	Liver
32	chr18:29422000-29434400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr18:29422000-29438400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:29422000-29445000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr18:29422000-29448200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:29422000-29448200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr18:29422000-29448200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr18:29422000-29448400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:29422200-29437200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr18:29422200-29438400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr18:29422200-29447600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr18:29422800-29455200	Weak transcription	Ovary	ovary
43	chr18:29423000-29433600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:29423000-29445200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr18:29423200-29448400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr18:29423400-29437800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr18:29423800-29439200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:29424000-29438800	Strong transcription	Placenta	Placenta
49	chr18:29424000-29447200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:29424000-29448400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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