Variant report

Variant	rs639444
Chromosome Location	chr18:8343115-8343116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8336321..8338584-chr18:8341680..8343766,3	K562	blood:

Variant related genes	Relation type
ENSG00000268046	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2246146	0.95[LWK][hapmap];0.94[MKK][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589107	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs603504	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs635416	0.86[CHB][hapmap];0.96[YRI][hapmap]
rs638511	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs656568	0.86[CHB][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap]
rs685144	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs694406	0.89[YRI][hapmap]
rs754140	0.85[EUR][1000 genomes]
rs8093169	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
4	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8320800-8357200	Weak transcription	Thymus	Thymus
2	chr18:8329600-8358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr18:8329800-8365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:8339400-8344200	Enhancers	Fetal Heart	heart
5	chr18:8339600-8344000	Enhancers	Fetal Lung	lung
6	chr18:8340200-8344200	Weak transcription	Brain Anterior Caudate	brain
7	chr18:8340200-8365600	Weak transcription	Psoas Muscle	Psoas
8	chr18:8340800-8344200	Enhancers	Stomach Mucosa	stomach
9	chr18:8341200-8343800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:8341400-8343600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:8341600-8348800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr18:8342000-8343400	Weak transcription	Right Atrium	heart
13	chr18:8342000-8346000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:8342000-8346000	Weak transcription	Ovary	ovary
15	chr18:8342000-8346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:8342000-8346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr18:8342000-8348200	Weak transcription	Fetal Intestine Large	intestine
18	chr18:8342000-8359200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr18:8342000-8362400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr18:8342200-8343400	Weak transcription	Right Ventricle	heart
21	chr18:8342200-8343800	Enhancers	HepG2	liver
22	chr18:8342200-8346000	Weak transcription	Fetal Stomach	stomach
23	chr18:8342200-8346000	Weak transcription	Lung	lung
24	chr18:8342200-8346200	Weak transcription	Fetal Intestine Small	intestine
25	chr18:8342200-8348200	Weak transcription	Pancreas	Pancrea
26	chr18:8342200-8349000	Weak transcription	Hela-S3	cervix
27	chr18:8342200-8350200	Weak transcription	Fetal Muscle Leg	muscle
28	chr18:8342200-8354600	Weak transcription	Gastric	stomach
29	chr18:8342200-8354600	Weak transcription	Left Ventricle	heart
30	chr18:8342200-8355200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:8342200-8359600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:8342200-8366800	Weak transcription	Adipose Nuclei	Adipose
33	chr18:8342200-8367400	Weak transcription	Aorta	Aorta
34	chr18:8342400-8344800	Weak transcription	NHLF	lung
35	chr18:8342400-8346600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr18:8342400-8346600	Weak transcription	NHDF-Ad	bronchial
37	chr18:8342400-8347000	Weak transcription	Brain Hippocampus Middle	brain
38	chr18:8342600-8345800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:8342600-8348000	Weak transcription	Osteobl	bone
40	chr18:8342600-8349400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:8342600-8349600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr18:8342600-8350400	Weak transcription	HSMMtube	muscle
43	chr18:8342600-8366400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr18:8342800-8343200	Weak transcription	Fetal Kidney	kidney
45	chr18:8342800-8343600	Enhancers	A549	lung
46	chr18:8342800-8357600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:8343000-8351800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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