Variant report

Variant	rs71362044
Chromosome Location	chr18:8839138-8839139
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	chr18:8834969..8836760-chr18:8839023..8841481,2	MCF-7	breast:
2	chr18:8837663..8839556-chr18:8847545..8849387,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10432143	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11081410	0.86[ASN][1000 genomes]
rs12956170	0.81[ASN][1000 genomes]
rs12956773	0.81[ASN][1000 genomes]
rs12957034	0.81[ASN][1000 genomes]
rs1564484	0.84[ASN][1000 genomes]
rs16954398	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2170297	0.86[ASN][1000 genomes]
rs2242273	0.86[ASN][1000 genomes]
rs34740257	0.82[ASN][1000 genomes]
rs35950206	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7233770	0.86[ASN][1000 genomes]
rs7240816	0.81[ASN][1000 genomes]

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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8826200-8839600	Weak transcription	Brain Angular Gyrus	brain
2	chr18:8826400-8841600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:8832800-8841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr18:8835600-8839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr18:8835800-8844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:8836000-8839200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr18:8836000-8841600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:8836200-8841600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:8837400-8839200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr18:8837800-8842000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:8838600-8839400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:8838800-8839800	Enhancers	Stomach Mucosa	stomach
13	chr18:8839000-8839200	Enhancers	Gastric	stomach
14	chr18:8839000-8839400	Enhancers	Stomach Smooth Muscle	stomach
15	chr18:8839000-8839600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr18:8839000-8839600	Enhancers	Esophagus	oesophagus
17	chr18:8839000-8839600	Enhancers	Fetal Brain Male	brain
18	chr18:8839000-8839600	Enhancers	Fetal Heart	heart
19	chr18:8839000-8839600	Enhancers	Fetal Muscle Trunk	muscle
20	chr18:8839000-8839600	Enhancers	Lung	lung
21	chr18:8839000-8839600	Enhancers	Ovary	ovary
22	chr18:8839000-8839600	Enhancers	Pancreas	Pancrea
23	chr18:8839000-8839600	Enhancers	Right Atrium	heart
24	chr18:8839000-8839600	Enhancers	Right Ventricle	heart
25	chr18:8839000-8839600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr18:8839000-8839800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:8839000-8839800	Enhancers	Left Ventricle	heart
28	chr18:8839000-8839800	Enhancers	HSMMtube	muscle
29	chr18:8839000-8840200	Enhancers	Colon Smooth Muscle	Colon
30	chr18:8839000-8840200	Enhancers	Fetal Muscle Leg	muscle

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