Variant report

Variant	rs562486397
Chromosome Location	chr1:93250192-93250193
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93248724..93252766-chr1:93297083..93300077,5	MCF-7	breast:
2	chr1:93213561..93216239-chr1:93249509..93251766,2	K562	blood:
3	chr1:93249024..93254901-chr1:93255339..93260264,13	K562	blood:
4	chr1:93249660..93252667-chr1:93296431..93299077,5	K562	blood:
5	chr1:93214671..93215199-chr1:93250016..93250945,2	K562	blood:
6	chr1:93249360..93255989-chr1:93295958..93302033,8	K562	blood:
7	chr1:93219197..93221453-chr1:93249271..93251757,2	K562	blood:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction
ENSG00000223896	Chromatin interaction
ENSG00000067208	Chromatin interaction
ENSG00000234202	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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	esv3379601	chr1:93249189-93251737	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93247800-93252000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:93248000-93251800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:93248400-93251200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:93248600-93250800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:93248600-93251400	Active TSS	Right Ventricle	heart
6	chr1:93248600-93251600	Active TSS	NHLF	lung
7	chr1:93248800-93251000	Active TSS	Hela-S3	cervix
8	chr1:93248800-93251000	Active TSS	NHEK	skin
9	chr1:93249000-93250800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:93249000-93251000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:93249000-93251000	Active TSS	HSMM	muscle
12	chr1:93249000-93251400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:93249000-93251400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:93249000-93251400	Active TSS	Aorta	Aorta
15	chr1:93249000-93251600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:93249000-93251600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:93249000-93251600	Active TSS	Stomach Smooth Muscle	stomach
18	chr1:93249000-93251800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:93249200-93250400	Active TSS	Right Atrium	heart
20	chr1:93249200-93250800	Active TSS	HMEC	breast
21	chr1:93249200-93251000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:93249200-93251000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:93249200-93251000	Active TSS	Fetal Intestine Large	intestine
24	chr1:93249200-93251200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:93249200-93251200	Active TSS	Fetal Intestine Small	intestine
26	chr1:93249200-93251400	Active TSS	Colon Smooth Muscle	Colon
27	chr1:93249200-93251400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:93249200-93251400	Active TSS	Fetal Kidney	kidney
29	chr1:93249200-93251400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr1:93249200-93251400	Active TSS	Fetal Stomach	stomach
31	chr1:93249200-93251400	Active TSS	Left Ventricle	heart
32	chr1:93249200-93251400	Active TSS	Pancreas	Pancrea
33	chr1:93249200-93251400	Active TSS	A549	lung
34	chr1:93249200-93251400	Active TSS	NH-A	brain
35	chr1:93249200-93251600	Active TSS	Rectal Smooth Muscle	rectum
36	chr1:93249200-93251600	Active TSS	Osteobl	bone
37	chr1:93249400-93250200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr1:93249400-93250200	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr1:93249400-93250200	Active TSS	Fetal Heart	heart
40	chr1:93249400-93250200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
41	chr1:93249400-93250800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr1:93249400-93251000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr1:93249400-93251000	Active TSS	Fetal Muscle Trunk	muscle
44	chr1:93249400-93251200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr1:93249400-93251200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr1:93249400-93251400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:93249400-93251400	Active TSS	Brain Substantia Nigra	brain
48	chr1:93249400-93251400	Active TSS	Fetal Lung	lung
49	chr1:93249400-93251400	Active TSS	Ovary	ovary
50	chr1:93249400-93251400	Active TSS	Psoas Muscle	Psoas

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