Variant report

Variant	rs542464993
Chromosome Location	chr4:22239927-22239928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817467	chr4:21602921-22422816	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv829881	chr4:22084704-22254679	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv593822	chr4:22165174-22246276	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv997783	chr4:22223503-22338543	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv428756	chr4:22239826-22406106	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22238800-22240000	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr4:22238800-22240400	Enhancers	Brain Hippocampus Middle	brain
3	chr4:22239000-22240200	Active TSS	Duodenum Mucosa	Duodenum
4	chr4:22239000-22240200	Active TSS	Fetal Intestine Small	intestine
5	chr4:22239000-22240400	Active TSS	Colonic Mucosa	Colon
6	chr4:22239000-22240800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:22239200-22240000	Active TSS	Primary T cells fromperipheralblood	blood
8	chr4:22239200-22240000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:22239200-22240200	Active TSS	Primary hematopoietic stem cells	blood
10	chr4:22239200-22240200	Active TSS	Ovary	ovary
11	chr4:22239200-22240200	Active TSS	Stomach Mucosa	stomach
12	chr4:22239400-22240000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:22239400-22240000	Active TSS	Primary B cells from peripheral blood	blood
14	chr4:22239400-22240200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr4:22239400-22240200	Active TSS	Fetal Intestine Large	intestine
16	chr4:22239400-22240200	Enhancers	HepG2	liver
17	chr4:22239400-22240600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:22239600-22240000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:22239600-22240000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:22239600-22240000	Enhancers	Brain Angular Gyrus	brain
21	chr4:22239600-22240200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:22239600-22240200	Active TSS	Rectal Smooth Muscle	rectum
23	chr4:22239600-22240200	Active TSS	Osteobl	bone
24	chr4:22239600-22240400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:22239600-22240400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:22239600-22240400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:22239600-22240400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:22239600-22240400	Flanking Active TSS	Liver	Liver
29	chr4:22239600-22240400	Active TSS	Brain Anterior Caudate	brain
30	chr4:22239600-22240400	Enhancers	Brain Germinal Matrix	brain
31	chr4:22239600-22240600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:22239600-22240600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:22239800-22240000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:22239800-22240000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:22239800-22240000	Enhancers	Brain Cingulate Gyrus	brain
36	chr4:22239800-22240400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:22239800-22240400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:22239800-22240600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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