Variant report

Variant	rs61542301
Chromosome Location	chr18:12600095-12600096
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	chr18:12594070..12599084-chr18:12599553..12605396,7	K562	blood:
2	chr18:12407681..12409442-chr18:12599712..12601429,2	K562	blood:

Variant related genes	Relation type
ENSG00000141391	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1539813	0.83[ASN][1000 genomes]
rs16939680	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1785308	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1833326	0.83[ASN][1000 genomes]
rs2015197	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2249830	0.82[ASN][1000 genomes]
rs2542172	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2542174	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2847272	0.80[ASN][1000 genomes]
rs2847305	0.83[ASN][1000 genomes]
rs4796966	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4797698	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4797701	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs479860	0.80[AMR][1000 genomes]
rs507868	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56063272	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56328751	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58135011	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60876158	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];0.87[ASN][1000 genomes]
rs62095972	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62097130	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62097132	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62097145	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8089003	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9635805	0.81[AMR][1000 genomes];0.84[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12594600-12600400	Enhancers	HepG2	liver
2	chr18:12595400-12600400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr18:12595600-12600400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:12595600-12600400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr18:12595600-12600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:12595800-12600600	Enhancers	HMEC	breast
7	chr18:12596800-12600400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:12596800-12600400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:12596800-12600400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:12596800-12600400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:12596800-12600600	Enhancers	NHDF-Ad	bronchial
12	chr18:12596800-12600600	Enhancers	NHEK	skin
13	chr18:12597000-12600200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr18:12597000-12605800	Weak transcription	Gastric	stomach
15	chr18:12597000-12605800	Weak transcription	K562	blood
16	chr18:12597000-12606800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr18:12597200-12600400	Enhancers	NHLF	lung
18	chr18:12597400-12600400	Enhancers	Primary T cells from cord blood	blood
19	chr18:12597600-12600400	Enhancers	HSMM	muscle
20	chr18:12597800-12610800	Weak transcription	Right Ventricle	heart
21	chr18:12597800-12634600	Weak transcription	Aorta	Aorta
22	chr18:12598000-12600400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:12598000-12600400	Enhancers	Osteobl	bone
24	chr18:12598000-12600600	Enhancers	HSMMtube	muscle
25	chr18:12598000-12601800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:12598000-12601800	Weak transcription	Brain Hippocampus Middle	brain
27	chr18:12598000-12601800	Weak transcription	Fetal Thymus	thymus
28	chr18:12598000-12606600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:12598000-12607000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr18:12598000-12607200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr18:12598000-12610000	Weak transcription	Lung	lung
32	chr18:12598200-12600400	Enhancers	Primary hematopoietic stem cells	blood
33	chr18:12598200-12606800	Weak transcription	Brain Anterior Caudate	brain
34	chr18:12598600-12608600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr18:12598800-12600400	Enhancers	Hela-S3	cervix
36	chr18:12598800-12600400	Enhancers	HUVEC	blood vessel
37	chr18:12598800-12600600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr18:12598800-12606000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr18:12598800-12606000	Weak transcription	Left Ventricle	heart
40	chr18:12598800-12606800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr18:12598800-12607000	Weak transcription	Brain Angular Gyrus	brain
42	chr18:12598800-12609000	Weak transcription	Right Atrium	heart
43	chr18:12599000-12600400	Enhancers	NH-A	brain
44	chr18:12599000-12600600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr18:12599000-12601800	Weak transcription	Fetal Brain Male	brain
46	chr18:12599000-12606800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:12599000-12606800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr18:12599400-12601800	Weak transcription	Fetal Heart	heart
49	chr18:12599600-12600400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:12599800-12600800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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