Variant report

Variant	rs62086587
Chromosome Location	chr18:8788277-8788278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8776679..8778190-chr18:8786494..8789082,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56848389	1.00[EUR][1000 genomes]
rs62086591	1.00[EUR][1000 genomes]
rs62086597	1.00[AMR][1000 genomes];1.00[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	nsv948672	chr18:8699323-8794278	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8748200-8788800	Weak transcription	Right Atrium	heart
2	chr18:8760200-8792600	Weak transcription	Hela-S3	cervix
3	chr18:8763200-8791000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:8772200-8788800	Weak transcription	Left Ventricle	heart
5	chr18:8776800-8791200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:8778200-8793200	Weak transcription	Stomach Mucosa	stomach
7	chr18:8778400-8793800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr18:8779600-8793600	Weak transcription	Fetal Heart	heart
9	chr18:8781600-8793200	Strong transcription	NHLF	lung
10	chr18:8781600-8793800	Strong transcription	NHDF-Ad	bronchial
11	chr18:8781800-8789400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:8781800-8789600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:8781800-8789800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr18:8782200-8789200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr18:8782400-8789400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr18:8782400-8791400	Weak transcription	HepG2	liver
17	chr18:8782600-8788600	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr18:8783000-8799600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr18:8783600-8789400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr18:8783600-8793200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr18:8784200-8789000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr18:8784400-8790600	Strong transcription	Osteobl	bone
23	chr18:8784800-8788400	Strong transcription	HSMMtube	muscle
24	chr18:8784800-8790800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:8785200-8788800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:8785200-8789000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:8785200-8790200	Strong transcription	NH-A	brain
28	chr18:8785400-8789200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:8785400-8789800	Genic enhancers	Stomach Smooth Muscle	stomach
30	chr18:8785600-8789400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:8785600-8790400	Weak transcription	Lung	lung
32	chr18:8785600-8800000	Weak transcription	Esophagus	oesophagus
33	chr18:8785800-8788800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr18:8785800-8789000	Weak transcription	Right Ventricle	heart
35	chr18:8786200-8788600	Genic enhancers	Fetal Stomach	stomach
36	chr18:8786200-8788800	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr18:8786200-8789000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:8786200-8789200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:8786200-8789600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:8786400-8788600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr18:8786400-8789600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
42	chr18:8786600-8788600	Weak transcription	HSMM	muscle
43	chr18:8786600-8789000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:8786600-8789600	Genic enhancers	Fetal Muscle Leg	muscle
45	chr18:8786600-8800000	Weak transcription	Ovary	ovary
46	chr18:8786800-8788800	Strong transcription	A549	lung
47	chr18:8786800-8789000	Enhancers	Brain Cingulate Gyrus	brain
48	chr18:8786800-8789000	Enhancers	Brain Hippocampus Middle	brain
49	chr18:8786800-8791000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr18:8786800-8797000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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