Variant report

Variant	rs12953973
Chromosome Location	chr18:8939298-8939299
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8937660..8940609-chr18:8949804..8952310,3	K562	blood:
2	chr18:8931675..8934249-chr18:8938226..8940118,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12965683	1.00[AFR][1000 genomes]
rs34156538	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62085537	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62085542	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8929200-8942800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:8934200-8943200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:8936000-8939600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr18:8936200-8939800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:8936200-8940800	Enhancers	K562	blood
6	chr18:8936600-8939600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:8936600-8939600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr18:8936800-8939600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr18:8937200-8940000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr18:8937600-8939600	Enhancers	Primary B cells from peripheral blood	blood
11	chr18:8937600-8942000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:8937600-8942000	Weak transcription	NH-A	brain
13	chr18:8937600-8942000	Weak transcription	NHLF	lung
14	chr18:8937600-8942800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:8937600-8948000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:8937800-8939400	Enhancers	Primary B cells from cord blood	blood
17	chr18:8937800-8939800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr18:8937800-8940000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr18:8937800-8941800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr18:8937800-8941800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:8938000-8940600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:8938000-8941800	Weak transcription	NHDF-Ad	bronchial
23	chr18:8938000-8942000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:8938200-8942000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr18:8938200-8943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:8938200-8943600	Weak transcription	HMEC	breast
27	chr18:8938400-8939400	Enhancers	Fetal Stomach	stomach
28	chr18:8938600-8939400	Enhancers	Fetal Muscle Leg	muscle
29	chr18:8938600-8939600	Enhancers	Fetal Thymus	thymus
30	chr18:8938800-8939400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr18:8938800-8939400	Enhancers	Thymus	Thymus
32	chr18:8938800-8939400	Enhancers	HSMM	muscle
33	chr18:8938800-8939600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:8938800-8942000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr18:8938800-8943400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:8939000-8939400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr18:8939000-8940000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:8939000-8942000	Weak transcription	Fetal Kidney	kidney
39	chr18:8939000-8943800	Weak transcription	NHEK	skin
40	chr18:8939000-8945000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr18:8939000-8945800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr18:8939200-8939600	Enhancers	Primary hematopoietic stem cells	blood
43	chr18:8939200-8940600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr18:8939200-8941200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr18:8939200-8943000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr18:8939200-8943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr18:8939200-8943200	Weak transcription	HSMMtube	muscle
48	chr18:8939200-8944200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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