Variant report

Variant	rs644183
Chromosome Location	chr18:8123197-8123198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16952894	0.89[CHB][hapmap]
rs17397183	0.89[CHB][hapmap]
rs17397841	0.90[CHB][hapmap]
rs4456614	0.89[CHB][hapmap]
rs489590	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs512522	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs530290	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538985	1.00[CHB][hapmap]
rs550672	0.90[CHB][hapmap]
rs557952	0.86[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs565798	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs577369	0.90[CEU][hapmap];0.81[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585266	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591062	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591432	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603243	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618381	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633126	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506549	0.89[CHB][hapmap]
rs663105	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684974	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs687245	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8099174	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8068600-8124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:8096600-8125000	Weak transcription	Pancreas	Pancrea
3	chr18:8102800-8126600	Weak transcription	Psoas Muscle	Psoas
4	chr18:8103400-8123800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr18:8103600-8124800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:8103600-8136600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:8103600-8139200	Weak transcription	Brain Anterior Caudate	brain
8	chr18:8104200-8132600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:8110400-8138600	Weak transcription	Fetal Muscle Leg	muscle
10	chr18:8111200-8137200	Weak transcription	Left Ventricle	heart
11	chr18:8113600-8125000	Weak transcription	Gastric	stomach
12	chr18:8117200-8124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:8117200-8132600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:8117200-8137800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:8117400-8124600	Weak transcription	HepG2	liver
16	chr18:8117400-8153200	Weak transcription	Liver	Liver
17	chr18:8117600-8124800	Weak transcription	Right Atrium	heart
18	chr18:8119200-8138200	Weak transcription	Ovary	ovary
19	chr18:8120000-8126800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:8121200-8145600	Weak transcription	Primary T cells from cord blood	blood
21	chr18:8121400-8123200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:8121400-8123400	Enhancers	NH-A	brain
23	chr18:8121400-8125800	Enhancers	Osteobl	bone
24	chr18:8121400-8126800	Enhancers	HMEC	breast
25	chr18:8121800-8123400	Enhancers	NHEK	skin
26	chr18:8121800-8125800	Enhancers	HSMM	muscle
27	chr18:8122400-8123400	Enhancers	NHDF-Ad	bronchial
28	chr18:8122400-8124400	Weak transcription	Adipose Nuclei	Adipose
29	chr18:8122400-8124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:8122400-8124800	Weak transcription	NHLF	lung
31	chr18:8122400-8125800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:8122400-8127000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:8122400-8157400	Weak transcription	Aorta	Aorta
34	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
35	chr18:8122600-8124800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr18:8122600-8125000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:8122600-8125000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:8122600-8126800	Enhancers	A549	lung
39	chr18:8122800-8124000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:8123000-8123800	Weak transcription	HSMMtube	muscle
41	chr18:8123000-8124400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr18:8123000-8124600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr18:8123000-8124800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:8123000-8124800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr18:8123000-8124800	Weak transcription	Placenta Amnion	Placenta Amnion

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