Variant report

Variant	rs544163566
Chromosome Location	chr1:56002394-56002395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv11545	chr1:56002387-56002939	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:55997000-56002600	Enhancers	HepG2	liver
2	chr1:55997000-56005400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:56000800-56002800	Enhancers	Fetal Intestine Large	intestine
4	chr1:56001600-56005400	Weak transcription	Psoas Muscle	Psoas
5	chr1:56002000-56002400	Enhancers	Fetal Intestine Small	intestine
6	chr1:56002000-56002400	Enhancers	Fetal Muscle Leg	muscle
7	chr1:56002000-56002400	Enhancers	Fetal Thymus	thymus
8	chr1:56002000-56002600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:56002000-56002600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:56002000-56002600	Enhancers	Colonic Mucosa	Colon
11	chr1:56002000-56002600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:56002000-56003200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:56002200-56002400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:56002200-56002400	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr1:56002200-56002600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:56002200-56002600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:56002200-56002600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:56002200-56002600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:56002200-56002600	Active TSS	Colon Smooth Muscle	Colon
20	chr1:56002200-56002600	Active TSS	Duodenum Mucosa	Duodenum
21	chr1:56002200-56002600	Flanking Active TSS	NHDF-Ad	bronchial
22	chr1:56002200-56002600	Enhancers	NHLF	lung
23	chr1:56002200-56002600	Enhancers	Osteobl	bone
24	chr1:56002200-56005400	Weak transcription	Right Atrium	heart

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