Variant report

Variant	rs72942739
Chromosome Location	chr18:8984508-8984509
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	chr18:8983237..8985130-chr18:8988547..8990547,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16954628	0.84[AMR][1000 genomes]
rs72942737	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9948418	0.82[AMR][1000 genomes]
rs9959249	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv3317280	chr18:8984505-8985569	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv3317281	chr18:8984505-8985569	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8978800-8984600	Enhancers	Rectal Smooth Muscle	rectum
2	chr18:8981200-8987000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:8981400-8988000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr18:8982000-8984600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr18:8982000-8984600	Enhancers	HMEC	breast
6	chr18:8982200-8984800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:8982400-8984600	Enhancers	NHDF-Ad	bronchial
8	chr18:8983000-8984600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:8983000-8987000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:8983200-8984600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:8983200-8986400	Weak transcription	Pancreas	Pancrea
12	chr18:8983200-8986800	Weak transcription	A549	lung
13	chr18:8983200-8987000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:8983200-8987000	Weak transcription	HSMM	muscle
15	chr18:8983200-8987000	Weak transcription	NH-A	brain
16	chr18:8983200-8988000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr18:8983200-8988800	Enhancers	Colon Smooth Muscle	Colon
18	chr18:8983400-8984600	Enhancers	NHEK	skin
19	chr18:8983400-8986800	Weak transcription	Osteobl	bone
20	chr18:8983400-8987000	Weak transcription	HSMMtube	muscle
21	chr18:8983400-8987200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr18:8983400-8987800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:8983600-8985800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:8983600-8987000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr18:8983600-8987200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr18:8983600-8987400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr18:8983800-8987400	Weak transcription	Fetal Stomach	stomach
28	chr18:8984200-8986200	Weak transcription	K562	blood
29	chr18:8984200-8987200	Weak transcription	Fetal Thymus	thymus
30	chr18:8984400-8986800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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