Variant report

Variant	rs7245117
Chromosome Location	chr18:29208681-29208682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28704012	1.00[AMR][1000 genomes]
rs7239174	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8089955	0.83[AMR][1000 genomes]
rs9948445	0.83[AFR][1000 genomes]
rs9966608	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29192400-29217400	Weak transcription	Left Ventricle	heart
2	chr18:29194800-29226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:29197200-29210600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr18:29197600-29224800	Weak transcription	Brain Anterior Caudate	brain
5	chr18:29197600-29224800	Weak transcription	Brain Germinal Matrix	brain
6	chr18:29199200-29212400	Weak transcription	Aorta	Aorta
7	chr18:29199800-29217200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:29200000-29222400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:29200200-29222000	Weak transcription	HMEC	breast
10	chr18:29200400-29210400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:29202800-29235000	Weak transcription	Pancreas	Pancrea
12	chr18:29202800-29240200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:29203200-29217000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:29203400-29211000	Weak transcription	HUVEC	blood vessel
15	chr18:29203800-29220200	Weak transcription	Ovary	ovary
16	chr18:29203800-29226000	Weak transcription	Fetal Lung	lung
17	chr18:29203800-29227400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:29204000-29210000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr18:29204000-29210400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr18:29204000-29210400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr18:29204000-29213600	Weak transcription	Thymus	Thymus
22	chr18:29204000-29228400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:29204200-29223200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr18:29204400-29220800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:29204400-29228400	Weak transcription	Psoas Muscle	Psoas
26	chr18:29204600-29213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr18:29204600-29238600	Weak transcription	Gastric	stomach
28	chr18:29204800-29209000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr18:29204800-29209000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:29205000-29215600	Weak transcription	Fetal Stomach	stomach
31	chr18:29205000-29215800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr18:29205000-29227400	Weak transcription	A549	lung
33	chr18:29206000-29208800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr18:29206400-29209000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr18:29206600-29210400	Weak transcription	Fetal Brain Female	brain
36	chr18:29206600-29213200	Weak transcription	Fetal Thymus	thymus
37	chr18:29206800-29217000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr18:29206800-29225800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr18:29207000-29209000	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr18:29207600-29209200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:29207600-29209400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr18:29207600-29209400	Strong transcription	Dnd41	blood
43	chr18:29207600-29210000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr18:29207600-29217600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:29207800-29208800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr18:29208000-29210400	Weak transcription	GM12878-XiMat	blood
47	chr18:29208000-29211000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr18:29208000-29227400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr18:29208200-29208800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:29208200-29209400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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