Variant report

Variant	rs72663358
Chromosome Location	chr18:67828339-67828340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12656510	1.00[EUR][1000 genomes]
rs12658318	0.80[EUR][1000 genomes]
rs32207	0.83[EUR][1000 genomes]
rs32208	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs32209	0.83[EUR][1000 genomes]
rs32210	0.83[EUR][1000 genomes]
rs32211	0.83[EUR][1000 genomes]
rs32212	0.83[EUR][1000 genomes]
rs32213	0.83[EUR][1000 genomes]
rs39936	0.83[EUR][1000 genomes]
rs39937	0.83[EUR][1000 genomes]
rs39939	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41080	0.83[EUR][1000 genomes]
rs42280	0.83[EUR][1000 genomes]
rs42688	0.83[EUR][1000 genomes]
rs469913	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72663359	0.97[EUR][1000 genomes]

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	nsv1066777	chr18:67488206-67933426	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv543765	chr18:67488206-67933426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv833686	chr18:67705715-67927449	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv492058	chr18:67713256-68517121	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv577546	chr18:67742446-67871511	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:67716400-67843400	Weak transcription	NHEK	skin
2	chr18:67772600-67829400	Weak transcription	Fetal Heart	heart
3	chr18:67772800-67833400	Weak transcription	Fetal Kidney	kidney
4	chr18:67773600-67846800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:67773600-67860400	Weak transcription	Right Ventricle	heart
6	chr18:67774800-67834000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr18:67775000-67838400	Weak transcription	Fetal Brain Female	brain
8	chr18:67778600-67829400	Weak transcription	Gastric	stomach
9	chr18:67778800-67829400	Weak transcription	Esophagus	oesophagus
10	chr18:67789400-67832800	Weak transcription	Fetal Brain Male	brain
11	chr18:67793800-67829600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:67795000-67829600	Weak transcription	Lung	lung
13	chr18:67796200-67848200	Weak transcription	HSMM	muscle
14	chr18:67800200-67831000	Weak transcription	Colonic Mucosa	Colon
15	chr18:67800600-67850400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr18:67800600-67853600	Weak transcription	Pancreas	Pancrea
17	chr18:67807000-67834200	Weak transcription	Brain Angular Gyrus	brain
18	chr18:67807000-67834200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr18:67807400-67859000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr18:67808200-67829400	Weak transcription	Brain Germinal Matrix	brain
21	chr18:67809000-67859800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:67812000-67829200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:67812400-67850400	Weak transcription	Aorta	Aorta
24	chr18:67813200-67832000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr18:67814000-67831000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:67814200-67853600	Weak transcription	Brain Substantia Nigra	brain
27	chr18:67814600-67834200	Weak transcription	Brain Hippocampus Middle	brain
28	chr18:67815000-67833200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:67815000-67853800	Weak transcription	Brain Anterior Caudate	brain
30	chr18:67815200-67829600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr18:67815400-67833200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:67815400-67853600	Weak transcription	Psoas Muscle	Psoas
33	chr18:67815800-67855800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr18:67816000-67829200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr18:67816000-67829400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:67816200-67829200	Weak transcription	Placenta	Placenta
37	chr18:67816200-67848200	Weak transcription	HMEC	breast
38	chr18:67816600-67829400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr18:67817400-67829400	Weak transcription	Primary B cells from cord blood	blood
40	chr18:67817400-67829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr18:67817600-67828400	Weak transcription	Adipose Nuclei	Adipose
42	chr18:67817600-67854800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr18:67817800-67829400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:67817800-67850400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr18:67817800-67850400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr18:67818000-67829400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr18:67818000-67829600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr18:67818000-67832000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr18:67819400-67829400	Weak transcription	HUVEC	blood vessel
50	chr18:67819600-67829000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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