Variant report

Variant	rs62085542
Chromosome Location	chr18:8952017-8952018
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	chr18:8937660..8940609-chr18:8949804..8952310,3	K562	blood:
2	chr18:8944596..8946523-chr18:8951781..8953416,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12953973	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12965683	1.00[AFR][1000 genomes]
rs34156538	1.00[AFR][1000 genomes]
rs62085537	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3344433	chr18:8949252-8953250	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8947800-8952400	Enhancers	Fetal Thymus	thymus
2	chr18:8947800-8955000	Enhancers	Primary B cells from peripheral blood	blood
3	chr18:8948000-8954200	Enhancers	Primary B cells from cord blood	blood
4	chr18:8948400-8955600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr18:8949200-8953200	Enhancers	Dnd41	blood
6	chr18:8949400-8952200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr18:8949400-8952600	Enhancers	K562	blood
8	chr18:8949400-8952600	Weak transcription	Osteobl	bone
9	chr18:8949800-8952200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:8949800-8952200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:8949800-8953800	Enhancers	NHDF-Ad	bronchial
12	chr18:8949800-8959000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr18:8949800-8959000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:8949800-8962200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:8950000-8958600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr18:8951200-8952400	Enhancers	HMEC	breast
17	chr18:8951200-8952600	Enhancers	Primary T cells from cord blood	blood
18	chr18:8951400-8952200	Enhancers	Thymus	Thymus
19	chr18:8951400-8952200	Enhancers	GM12878-XiMat	blood
20	chr18:8951400-8953400	Enhancers	HSMM	muscle
21	chr18:8951400-8953800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:8951600-8952200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:8951600-8952200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr18:8951600-8952400	Enhancers	NHEK	skin
25	chr18:8951600-8953800	Enhancers	Fetal Brain Male	brain
26	chr18:8951800-8952400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr18:8951800-8952400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr18:8951800-8952400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr18:8951800-8953400	Enhancers	Fetal Brain Female	brain
30	chr18:8952000-8952400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr18:8952000-8952400	Enhancers	Fetal Muscle Leg	muscle
32	chr18:8952000-8952600	Enhancers	HepG2	liver
33	chr18:8952000-8953200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:8952000-8953600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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