Variant report

Variant	rs2230601
Chromosome Location	chr18:8069868-8069869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1297389	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3865362	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs478396	0.84[CEU][hapmap];0.90[JPT][hapmap]
rs490065	0.81[JPT][hapmap]
rs502843	0.81[JPT][hapmap]
rs523280	0.96[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs567595	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615129	0.80[JPT][hapmap]
rs616698	0.81[JPT][hapmap]
rs620346	0.81[JPT][hapmap]
rs629391	0.81[JPT][hapmap]
rs630778	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs630815	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs646575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240054	0.96[CEU][hapmap]

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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8045800-8072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:8047000-8073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:8052600-8078200	Weak transcription	Ovary	ovary
4	chr18:8052600-8105200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:8063600-8073800	Weak transcription	Pancreas	Pancrea
6	chr18:8063600-8074000	Weak transcription	Liver	Liver
7	chr18:8065600-8073600	Weak transcription	Left Ventricle	heart
8	chr18:8065600-8101600	Weak transcription	Aorta	Aorta
9	chr18:8066200-8094000	Weak transcription	Hela-S3	cervix
10	chr18:8067000-8085800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr18:8067400-8110200	Weak transcription	Right Ventricle	heart
12	chr18:8067600-8094800	Weak transcription	NHDF-Ad	bronchial
13	chr18:8067800-8081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:8067800-8081600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr18:8068000-8070800	Weak transcription	HepG2	liver
16	chr18:8068000-8072000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:8068000-8078800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr18:8068000-8084000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:8068000-8085800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:8068000-8092400	Weak transcription	Thymus	Thymus
21	chr18:8068000-8094800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr18:8068000-8100000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:8068400-8072000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr18:8068400-8078200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:8068400-8095200	Weak transcription	Lung	lung
26	chr18:8068400-8101600	Weak transcription	Fetal Stomach	stomach
27	chr18:8068400-8102400	Weak transcription	Fetal Thymus	thymus
28	chr18:8068600-8124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:8068800-8071600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:8068800-8073000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:8068800-8084400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr18:8068800-8084800	Weak transcription	Fetal Heart	heart
33	chr18:8069000-8071600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr18:8069000-8087600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr18:8069000-8102200	Weak transcription	Fetal Muscle Leg	muscle
36	chr18:8069000-8102400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr18:8069000-8102400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr18:8069200-8070000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr18:8069200-8070000	Enhancers	Psoas Muscle	Psoas
40	chr18:8069200-8070200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:8069400-8070000	Strong transcription	A549	lung
42	chr18:8069400-8103400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr18:8069600-8070000	Strong transcription	Adipose Nuclei	Adipose
44	chr18:8069600-8070200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:8069600-8070200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr18:8069600-8071400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr18:8069600-8088400	Weak transcription	HMEC	breast
48	chr18:8069600-8102400	Weak transcription	Brain Anterior Caudate	brain
49	chr18:8069800-8070000	ZNF genes & repeats	Brain Substantia Nigra	brain
50	chr18:8069800-8070000	ZNF genes & repeats	Fetal Lung	lung

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