Variant report

Variant	rs187183592
Chromosome Location	chr4:54375635-54375636
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	chr4:54375519..54377286-chr4:54400053..54402800,2	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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv21302	chr4:54375399-54378966	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54343000-54385600	Weak transcription	Fetal Brain Female	brain
2	chr4:54343200-54376800	Weak transcription	Brain Anterior Caudate	brain
3	chr4:54347600-54401800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:54355200-54378600	Weak transcription	Fetal Brain Male	brain
5	chr4:54362800-54376000	Weak transcription	Brain Angular Gyrus	brain
6	chr4:54363200-54384200	Weak transcription	Esophagus	oesophagus
7	chr4:54363800-54384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:54366600-54384200	Weak transcription	Pancreas	Pancrea
9	chr4:54368000-54376600	Weak transcription	Ovary	ovary
10	chr4:54372800-54388400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:54373200-54375800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:54374400-54376600	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:54374400-54376800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:54374400-54399000	Weak transcription	Fetal Intestine Large	intestine
15	chr4:54374400-54421000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:54374600-54376800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:54374600-54377800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:54374800-54377000	Enhancers	Osteobl	bone
19	chr4:54374800-54377600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:54374800-54393600	Weak transcription	Placenta	Placenta
21	chr4:54375000-54375800	Weak transcription	Right Atrium	heart
22	chr4:54375000-54376200	Weak transcription	NHLF	lung
23	chr4:54375000-54376400	Weak transcription	Aorta	Aorta
24	chr4:54375000-54376400	Weak transcription	Liver	Liver
25	chr4:54375000-54376800	Weak transcription	Psoas Muscle	Psoas
26	chr4:54375000-54378000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:54375000-54393600	Weak transcription	Gastric	stomach
28	chr4:54375000-54398800	Weak transcription	Fetal Intestine Small	intestine
29	chr4:54375200-54377000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:54375400-54376200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:54375400-54376200	Weak transcription	HSMMtube	muscle
32	chr4:54375400-54376800	Weak transcription	HSMM	muscle
33	chr4:54375400-54377200	Weak transcription	Stomach Mucosa	stomach
34	chr4:54375600-54376200	Weak transcription	NHDF-Ad	bronchial

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