Variant report

Variant	rs62085888
Chromosome Location	chr18:9183742-9183743
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	chr18:9182719..9184745-chr18:9190563..9192792,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12605340	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7238828	1.00[ASN][1000 genomes]
rs7506347	0.99[ASN][1000 genomes]
rs9675608	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9946176	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9952621	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs998172	0.95[EUR][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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9148400-9187200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr18:9153600-9185000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr18:9162200-9187800	Weak transcription	Thymus	Thymus
4	chr18:9164400-9200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:9165600-9195400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr18:9168400-9185600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
8	chr18:9172200-9185000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr18:9172400-9187000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:9173000-9208400	Weak transcription	NHLF	lung
11	chr18:9174200-9191800	Weak transcription	Fetal Stomach	stomach
12	chr18:9174200-9192000	Weak transcription	HMEC	breast
13	chr18:9174400-9183800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:9174400-9184000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr18:9174400-9191800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:9174600-9183800	Weak transcription	Primary B cells from cord blood	blood
17	chr18:9174600-9184000	Weak transcription	Placenta	Placenta
18	chr18:9174600-9184400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:9174600-9184600	Weak transcription	Adipose Nuclei	Adipose
20	chr18:9174600-9185000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr18:9174600-9188000	Weak transcription	Ovary	ovary
22	chr18:9174600-9188000	Weak transcription	HSMMtube	muscle
23	chr18:9174600-9188200	Weak transcription	Fetal Thymus	thymus
24	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
25	chr18:9174800-9184400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr18:9174800-9184600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr18:9174800-9184600	Weak transcription	Gastric	stomach
28	chr18:9174800-9187000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr18:9174800-9187000	Weak transcription	Esophagus	oesophagus
30	chr18:9174800-9187000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr18:9174800-9188000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr18:9174800-9191800	Weak transcription	Lung	lung
33	chr18:9174800-9211000	Weak transcription	Hela-S3	cervix
34	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
35	chr18:9175200-9184400	Weak transcription	Fetal Muscle Leg	muscle
36	chr18:9175400-9184400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr18:9175400-9184600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr18:9175400-9184800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr18:9175600-9184600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr18:9176600-9195000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr18:9177000-9188000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr18:9177400-9188400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr18:9177800-9184400	Weak transcription	Right Ventricle	heart
44	chr18:9177800-9188200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr18:9178000-9188000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:9178000-9221800	Weak transcription	Fetal Heart	heart
47	chr18:9178200-9184000	Weak transcription	HUVEC	blood vessel
48	chr18:9179800-9188800	Weak transcription	Left Ventricle	heart
49	chr18:9180200-9214200	Weak transcription	A549	lung
50	chr18:9180800-9188000	Weak transcription	Brain Anterior Caudate	brain

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