Variant report

Variant	rs62097130
Chromosome Location	chr18:12611425-12611426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12610305..12612983-chr18:12619196..12621821,2	MCF-7	breast:
2	chr18:12598216..12599917-chr18:12611119..12613294,2	MCF-7	breast:
3	chr18:12608327..12609918-chr18:12610688..12613399,2	K562	blood:
4	chr18:12600695..12603563-chr18:12609773..12612258,2	K562	blood:
5	chr18:12604800..12607453-chr18:12610712..12612678,2	MCF-7	breast:
6	chr18:12610969..12612983-chr18:12616127..12617928,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1539813	0.81[ASN][1000 genomes]
rs16939680	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1785308	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1833326	0.81[ASN][1000 genomes]
rs2015197	0.82[AMR][1000 genomes]
rs2249830	0.80[ASN][1000 genomes]
rs2542172	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2542174	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2847305	0.81[ASN][1000 genomes]
rs4796966	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4797698	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4797701	0.84[AMR][1000 genomes]
rs479860	0.80[AMR][1000 genomes]
rs507868	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56063272	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56328751	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58135011	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60876158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61542301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61635631	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62095972	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62097132	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62097145	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8089003	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9635805	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12597800-12634600	Weak transcription	Aorta	Aorta
2	chr18:12602200-12638400	Weak transcription	Fetal Brain Female	brain
3	chr18:12606000-12615600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:12606200-12616200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:12606600-12611600	Enhancers	HepG2	liver
6	chr18:12607000-12640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:12607400-12615600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:12607400-12616000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:12607800-12651800	Weak transcription	Brain Germinal Matrix	brain
10	chr18:12608000-12611800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:12608200-12611600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:12608800-12628800	Weak transcription	NH-A	brain
13	chr18:12609200-12615800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr18:12609200-12629400	Weak transcription	HSMMtube	muscle
15	chr18:12609400-12621400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:12609400-12621600	Weak transcription	NHEK	skin
17	chr18:12609400-12628800	Weak transcription	HUVEC	blood vessel
18	chr18:12609600-12629000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:12609800-12622800	Weak transcription	Fetal Brain Male	brain
20	chr18:12610000-12611600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr18:12610200-12611600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:12610600-12611600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:12610600-12611600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:12610600-12611600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr18:12610600-12611600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr18:12610600-12611600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr18:12610800-12611800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:12610800-12615800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:12611200-12611800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr18:12611200-12616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:12611400-12616200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:12611400-12629000	Weak transcription	HSMM	muscle

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