Variant report

Variant	rs551228258
Chromosome Location	chr1:85069623-85069624
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	chr1:84971513..84973895-chr1:85067584..85070054,2	K562	blood:
2	chr1:85065241..85066819-chr1:85068863..85070458,2	K562	blood:

Variant related genes	Relation type
ENSG00000174021	Chromatin interaction
ENSG00000122432	Chromatin interaction

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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3364770	chr1:85069339-85078334	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85051000-85069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85068000-85069800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:85068600-85070200	Enhancers	Fetal Heart	heart
4	chr1:85069000-85070200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:85069000-85070200	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr1:85069000-85070200	Flanking Active TSS	NH-A	brain
7	chr1:85069000-85070400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:85069000-85070400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:85069000-85070400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:85069000-85070400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:85069000-85070400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:85069000-85070400	Flanking Active TSS	NHEK	skin
13	chr1:85069000-85070600	Flanking Active TSS	Hela-S3	cervix
14	chr1:85069000-85070600	Flanking Active TSS	Osteobl	bone
15	chr1:85069200-85070000	Active TSS	Ovary	ovary
16	chr1:85069200-85070000	Active TSS	Rectal Smooth Muscle	rectum
17	chr1:85069200-85070200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:85069200-85070200	Flanking Active TSS	HSMMtube	muscle
19	chr1:85069200-85070400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:85069200-85070400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:85069200-85070400	Flanking Active TSS	HUVEC	blood vessel
22	chr1:85069400-85069800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:85069400-85069800	Active TSS	HSMM	muscle
24	chr1:85069400-85069800	Active TSS	NHDF-Ad	bronchial
25	chr1:85069400-85070000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:85069400-85070000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:85069400-85070000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:85069400-85070000	Active TSS	Colon Smooth Muscle	Colon
29	chr1:85069400-85070200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:85069400-85070200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:85069400-85070200	Active TSS	Aorta	Aorta
32	chr1:85069400-85070200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:85069400-85070200	Enhancers	Placenta	Placenta
34	chr1:85069400-85070400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:85069400-85070400	Active TSS	Adipose Nuclei	Adipose
36	chr1:85069400-85070400	Active TSS	Right Atrium	heart
37	chr1:85069400-85070400	Flanking Active TSS	HMEC	breast
38	chr1:85069600-85069800	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr1:85069600-85069800	Active TSS	HepG2	liver
40	chr1:85069600-85069800	Enhancers	NHLF	lung
41	chr1:85069600-85070000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:85069600-85070000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:85069600-85070000	Active TSS	Brain Anterior Caudate	brain
44	chr1:85069600-85070000	Active TSS	Brain Cingulate Gyrus	brain
45	chr1:85069600-85070000	Flanking Active TSS	Left Ventricle	heart
46	chr1:85069600-85070000	Active TSS	A549	lung
47	chr1:85069600-85070200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr1:85069600-85070400	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:85069600-85070400	Flanking Active TSS	K562	blood
50	chr1:85069600-85077400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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