Variant report

Variant	rs553367212
Chromosome Location	chr18:8949633-8949634
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	chr18:8945082..8946777-chr18:8948089..8950615,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1789463	chr18:8949631-8949637	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8946600-8949800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:8947600-8949800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr18:8947600-8949800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr18:8947600-8949800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr18:8947600-8950200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:8947600-8950400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:8947600-8950400	Enhancers	Fetal Brain Male	brain
8	chr18:8947800-8949800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:8947800-8949800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:8947800-8949800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:8947800-8950000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr18:8947800-8950000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr18:8947800-8950200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr18:8947800-8950400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr18:8947800-8952400	Enhancers	Fetal Thymus	thymus
16	chr18:8947800-8955000	Enhancers	Primary B cells from peripheral blood	blood
17	chr18:8948000-8949800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:8948000-8950000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:8948000-8954200	Enhancers	Primary B cells from cord blood	blood
20	chr18:8948200-8949800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:8948200-8950000	Flanking Active TSS	NHEK	skin
22	chr18:8948400-8949800	Enhancers	Fetal Muscle Leg	muscle
23	chr18:8948400-8950000	Enhancers	Brain Germinal Matrix	brain
24	chr18:8948400-8950200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr18:8948400-8955600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr18:8948600-8949800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:8948800-8949800	Flanking Active TSS	NHDF-Ad	bronchial
28	chr18:8949000-8949800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:8949200-8949800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:8949200-8949800	Flanking Active TSS	NHLF	lung
31	chr18:8949200-8950200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:8949200-8953200	Enhancers	Dnd41	blood
33	chr18:8949400-8949800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:8949400-8949800	Enhancers	Colon Smooth Muscle	Colon
35	chr18:8949400-8949800	Enhancers	NH-A	brain
36	chr18:8949400-8950000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr18:8949400-8950000	Enhancers	A549	lung
38	chr18:8949400-8950400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:8949400-8950600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr18:8949400-8952200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr18:8949400-8952600	Enhancers	K562	blood
42	chr18:8949400-8952600	Weak transcription	Osteobl	bone
43	chr18:8949600-8949800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr18:8949600-8949800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:8949600-8950000	Enhancers	Rectal Smooth Muscle	rectum
46	chr18:8949600-8950000	Enhancers	HSMMtube	muscle
47	chr18:8949600-8950200	Enhancers	HMEC	breast
48	chr18:8949600-8950200	Enhancers	HSMM	muscle
49	chr18:8949600-8950400	Enhancers	Fetal Brain Female	brain

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