Variant report

Variant	rs931952
Chromosome Location	chr18:8990708-8990709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8974277..8977076-chr18:8989092..8991571,2	MCF-7	breast:
2	chr18:8988621..8991582-chr18:9016532..9018302,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2032165	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4797344	0.86[EUR][1000 genomes]
rs4798741	0.87[ASN][1000 genomes]
rs4798742	0.82[ASN][1000 genomes]
rs4798747	0.96[ASN][1000 genomes]
rs8090221	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9304026	0.88[ASN][1000 genomes]
rs9959904	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8986200-8991200	Enhancers	K562	blood
2	chr18:8986800-8992600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:8988200-8991000	Weak transcription	Osteobl	bone
4	chr18:8988200-8991400	Enhancers	Liver	Liver
5	chr18:8988200-8994800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:8988400-8991000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:8989200-8990800	Weak transcription	NH-A	brain
8	chr18:8989400-8990800	Enhancers	HMEC	breast
9	chr18:8989400-8991800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:8989600-8991400	Enhancers	Colon Smooth Muscle	Colon
11	chr18:8989800-8991600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr18:8990000-8990800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:8990000-8991000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:8990000-8991000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr18:8990000-8991000	Enhancers	Psoas Muscle	Psoas
16	chr18:8990000-8991200	Enhancers	Fetal Muscle Leg	muscle
17	chr18:8990000-8991600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:8990000-8992200	Enhancers	NHDF-Ad	bronchial
19	chr18:8990200-8990800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:8990200-8991800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:8990200-8992000	Enhancers	HSMMtube	muscle
22	chr18:8990400-8990800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr18:8990400-8991000	Enhancers	Pancreas	Pancrea
24	chr18:8990400-8991000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr18:8990400-8991200	Enhancers	Brain Hippocampus Middle	brain
26	chr18:8990400-8991600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr18:8990400-8991800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:8990400-8991800	Enhancers	HSMM	muscle
29	chr18:8990600-8991000	Enhancers	Adipose Nuclei	Adipose
30	chr18:8990600-8991000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr18:8990600-8991000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr18:8990600-8991000	Enhancers	Fetal Brain Male	brain
33	chr18:8990600-8991400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:8990600-8991400	Enhancers	Rectal Smooth Muscle	rectum
35	chr18:8990600-8991800	Enhancers	NHLF	lung
36	chr18:8990600-8998800	Weak transcription	A549	lung

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