Variant report

Variant	rs62093514
Chromosome Location	chr18:29230977-29230978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs62093482	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62093487	1.00[AFR][1000 genomes]
rs62093540	1.00[ASN][1000 genomes]
rs62093544	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62095460	1.00[AFR][1000 genomes];1.00[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	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:53 , 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	chr18:29224800-29232400	Enhancers	Primary hematopoietic stem cells	blood
10	chr18:29225200-29233600	Weak transcription	Dnd41	blood
11	chr18:29225800-29231600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr18:29226800-29231200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:29226800-29232000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr18:29227400-29231000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:29227400-29238000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr18:29227600-29252000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr18:29227800-29232400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:29227800-29238800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr18:29227800-29240800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:29228200-29236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr18:29228600-29232000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr18:29228600-29233800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr18:29228600-29235200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:29228600-29238000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr18:29229000-29232400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr18:29229000-29233400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr18:29229200-29231200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr18:29229200-29231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr18:29229200-29231400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr18:29229200-29232600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr18:29229200-29236800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr18:29229200-29238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:29229200-29238200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr18:29229200-29245200	Weak transcription	Brain Anterior Caudate	brain
35	chr18:29229400-29231200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr18:29229400-29233200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:29229400-29234600	Weak transcription	HUVEC	blood vessel
38	chr18:29229400-29238600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr18:29229400-29239600	Weak transcription	Brain Hippocampus Middle	brain
40	chr18:29229400-29239600	Weak transcription	Right Atrium	heart
41	chr18:29229400-29252800	Weak transcription	NHEK	skin
42	chr18:29229600-29238200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:29229600-29239800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr18:29229800-29236800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr18:29230400-29233600	Weak transcription	Fetal Intestine Small	intestine
46	chr18:29230400-29236800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr18:29230600-29231600	Weak transcription	Fetal Thymus	thymus
48	chr18:29230600-29232200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr18:29230600-29232200	Weak transcription	Thymus	Thymus
50	chr18:29230600-29232200	Enhancers	GM12878-XiMat	blood

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