Variant report

Variant	rs62095226
Chromosome Location	chr18:29124067-29124068
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10163532	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10502573	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11542765	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12327220	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12604517	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12605787	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12607843	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12607944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1375443	0.94[EUR][1000 genomes]
rs16962075	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16962077	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17802774	0.95[EUR][1000 genomes]
rs1791155	0.97[EUR][1000 genomes]
rs2053825	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2053826	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2053827	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2096918	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2256638	1.00[EUR][1000 genomes]
rs2278792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2290128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2290129	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3737375	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3737378	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3829628	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4470222	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4471764	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55899143	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389431	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62095191	0.99[EUR][1000 genomes]
rs62095194	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62095195	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62095196	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62095222	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62095223	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7243604	0.81[ASN][1000 genomes]
rs7244098	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7506013	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9807377	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9807379	0.95[EUR][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	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29096800-29134600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:29097200-29129400	Weak transcription	Small Intestine	intestine
3	chr18:29097600-29128000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr18:29097800-29130600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:29098200-29127600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr18:29098600-29127400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:29099400-29127400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:29099400-29128000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr18:29099600-29127400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr18:29099600-29128000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:29101400-29131800	Weak transcription	Stomach Mucosa	stomach
12	chr18:29103400-29128200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr18:29105200-29127600	Weak transcription	Fetal Heart	heart
14	chr18:29111000-29127200	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr18:29111000-29127400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr18:29113600-29126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr18:29114600-29127400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr18:29115200-29127200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:29117000-29136000	Weak transcription	A549	lung
20	chr18:29118000-29127400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr18:29118000-29127600	Strong transcription	NHEK	skin
22	chr18:29118400-29124400	Strong transcription	HMEC	breast
23	chr18:29118400-29126800	Strong transcription	GM12878-XiMat	blood
24	chr18:29119800-29127800	Weak transcription	Fetal Muscle Leg	muscle
25	chr18:29120000-29127800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr18:29120000-29129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr18:29120600-29124800	Weak transcription	Esophagus	oesophagus
28	chr18:29122000-29128800	Weak transcription	NH-A	brain
29	chr18:29122400-29125000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:29122800-29125800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:29122800-29126800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr18:29122800-29131800	Weak transcription	Colonic Mucosa	Colon
33	chr18:29123000-29125800	Weak transcription	Liver	Liver
34	chr18:29123000-29126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr18:29123200-29124800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:29123200-29124800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr18:29123200-29125800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr18:29123200-29126000	Weak transcription	Gastric	stomach
39	chr18:29123400-29124800	Weak transcription	Fetal Thymus	thymus
40	chr18:29123400-29124800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr18:29123400-29125400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr18:29123400-29125600	Weak transcription	Left Ventricle	heart
43	chr18:29123400-29125800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr18:29123400-29125800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr18:29123400-29125800	Weak transcription	HepG2	liver
46	chr18:29123400-29126000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:29123400-29126000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr18:29123400-29126000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr18:29123400-29126000	Weak transcription	Ovary	ovary
50	chr18:29123400-29126000	Weak transcription	Thymus	Thymus

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