Variant report

Variant	rs9953097
Chromosome Location	chr18:30501355-30501356
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12104007	1.00[AMR][1000 genomes]
rs16963999	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964005	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964036	1.00[AMR][1000 genomes]
rs16964062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964115	1.00[AMR][1000 genomes]
rs16964116	1.00[AMR][1000 genomes]
rs16964117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28458243	1.00[AMR][1000 genomes]
rs28496433	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28516912	0.88[AFR][1000 genomes]
rs28771668	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56017479	1.00[AMR][1000 genomes]
rs60730880	0.88[AFR][1000 genomes]
rs60766333	0.92[AFR][1000 genomes]
rs61164044	1.00[AMR][1000 genomes]
rs9783891	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9783904	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9944992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9945125	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9949048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9949112	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9949158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9951977	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9956243	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9956679	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9958205	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963068	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9965451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758474	chr18:30383327-30574737	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2758720	chr18:30383327-30574737	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv2250	chr18:30473758-30505927	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1060448	chr18:30481131-30540347	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1056985	chr18:30486272-30540347	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1816769	chr18:30486596-30518855	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv3503410	chr18:30494604-30502302	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3503411	chr18:30495004-30502252	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3503413	chr18:30495247-30501906	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3503407	chr18:30495572-30501363	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv20109	chr18:30495710-30503537	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3316634	chr18:30497283-30503651	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3316636	chr18:30497305-30503632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3316635	chr18:30497312-30503592	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3316637	chr18:30497386-30503541	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv528397	chr18:30498621-30556985	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30499600-30502000	Enhancers	HepG2	liver
2	chr18:30500000-30502200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr18:30500000-30502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:30500000-30503200	Enhancers	NHEK	skin
5	chr18:30500200-30502000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr18:30500200-30502200	Enhancers	HMEC	breast
7	chr18:30500400-30502400	Weak transcription	Primary B cells from cord blood	blood
8	chr18:30500400-30504000	Enhancers	HSMM	muscle
9	chr18:30500600-30502200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:30500600-30502400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:30500600-30503800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:30500800-30502200	Enhancers	Hela-S3	cervix
13	chr18:30500800-30502200	Enhancers	HUVEC	blood vessel
14	chr18:30500800-30503400	Enhancers	Osteobl	bone
15	chr18:30500800-30503600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:30500800-30503600	Enhancers	HSMMtube	muscle
17	chr18:30501000-30501400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr18:30501000-30501400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr18:30501000-30501400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:30501000-30501400	Flanking Active TSS	NH-A	brain
21	chr18:30501000-30501600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:30501000-30502000	Enhancers	Dnd41	blood
23	chr18:30501000-30502200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:30501000-30502400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr18:30501200-30501400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:30501200-30502000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:30501200-30502000	Enhancers	NHDF-Ad	bronchial
28	chr18:30501200-30502200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:30501200-30503200	Enhancers	Primary monocytes fromperipheralblood	blood

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