Variant report

Variant	rs114420947
Chromosome Location	chr18:8950325-8950326
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	chr18:8945082..8946777-chr18:8948089..8950615,2	K562	blood:
2	chr18:8937660..8940609-chr18:8949804..8952310,3	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	chr18:8947600-8950400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:8947600-8950400	Enhancers	Fetal Brain Male	brain
3	chr18:8947800-8950400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr18:8947800-8952400	Enhancers	Fetal Thymus	thymus
5	chr18:8947800-8955000	Enhancers	Primary B cells from peripheral blood	blood
6	chr18:8948000-8954200	Enhancers	Primary B cells from cord blood	blood
7	chr18:8948400-8955600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:8949200-8953200	Enhancers	Dnd41	blood
9	chr18:8949400-8950400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:8949400-8950600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr18:8949400-8952200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:8949400-8952600	Enhancers	K562	blood
13	chr18:8949400-8952600	Weak transcription	Osteobl	bone
14	chr18:8949600-8950400	Enhancers	Fetal Brain Female	brain
15	chr18:8949800-8950400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:8949800-8950600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:8949800-8950600	Enhancers	NHLF	lung
18	chr18:8949800-8951600	Weak transcription	NH-A	brain
19	chr18:8949800-8951800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:8949800-8952200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:8949800-8952200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr18:8949800-8953800	Enhancers	NHDF-Ad	bronchial
23	chr18:8949800-8959000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:8949800-8959000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr18:8949800-8962200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:8950000-8950400	Enhancers	NHEK	skin
27	chr18:8950000-8951200	Weak transcription	HSMMtube	muscle
28	chr18:8950000-8952000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:8950000-8952000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr18:8950000-8958600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr18:8950200-8950600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:8950200-8951200	Weak transcription	HMEC	breast
33	chr18:8950200-8951400	Weak transcription	HSMM	muscle
34	chr18:8950200-8951600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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