Variant report

Variant	rs9962191
Chromosome Location	chr18:29229523-29229524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6506934	1.00[AMR][1000 genomes]
rs8089955	0.85[AMR][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	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29202800-29235000	Weak transcription	Pancreas	Pancrea
2	chr18:29202800-29240200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr18:29204600-29238600	Weak transcription	Gastric	stomach
4	chr18:29218800-29232200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr18:29219200-29240000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:29219200-29252000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:29219200-29252000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:29223200-29236400	Weak transcription	Esophagus	oesophagus
9	chr18:29224600-29230800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:29224800-29232400	Enhancers	Primary hematopoietic stem cells	blood
11	chr18:29225200-29233600	Weak transcription	Dnd41	blood
12	chr18:29225400-29230200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr18:29225800-29230600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr18:29225800-29230600	Flanking Active TSS	GM12878-XiMat	blood
15	chr18:29225800-29231600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr18:29226000-29230600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr18:29226400-29230600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:29226400-29230600	Enhancers	Fetal Intestine Large	intestine
19	chr18:29226800-29231200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:29226800-29232000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr18:29227000-29230600	Enhancers	Fetal Lung	lung
22	chr18:29227400-29229600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:29227400-29231000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:29227400-29238000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr18:29227600-29230000	Weak transcription	Fetal Muscle Leg	muscle
26	chr18:29227600-29252000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr18:29227800-29230200	Weak transcription	Fetal Thymus	thymus
28	chr18:29227800-29230200	Weak transcription	Thymus	Thymus
29	chr18:29227800-29232400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr18:29227800-29238800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr18:29227800-29240800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr18:29228200-29230000	Enhancers	Hela-S3	cervix
33	chr18:29228200-29230000	Enhancers	HMEC	breast
34	chr18:29228200-29236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr18:29228400-29229600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:29228400-29229600	Enhancers	A549	lung
37	chr18:29228400-29229800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr18:29228600-29230200	Weak transcription	Brain Germinal Matrix	brain
39	chr18:29228600-29230400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr18:29228600-29232000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:29228600-29233800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr18:29228600-29235200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:29228600-29238000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr18:29228800-29229600	Enhancers	HSMMtube	muscle
45	chr18:29229000-29230000	Weak transcription	Fetal Intestine Small	intestine
46	chr18:29229000-29232400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr18:29229000-29233400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr18:29229200-29230200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr18:29229200-29230200	Weak transcription	Brain Substantia Nigra	brain
50	chr18:29229200-29231200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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