Variant report

Variant	rs59722857
Chromosome Location	chr4:22239453-22239454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10013755	0.92[EUR][1000 genomes]
rs10461102	0.84[EUR][1000 genomes]
rs11931969	1.00[EUR][1000 genomes]
rs11933715	1.00[EUR][1000 genomes]
rs16872470	0.84[EUR][1000 genomes]
rs2323302	0.84[EUR][1000 genomes]
rs73105789	0.84[EUR][1000 genomes]
rs73107814	0.92[EUR][1000 genomes]
rs73801078	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22235200-22239600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:22235400-22239600	Weak transcription	Brain Angular Gyrus	brain
3	chr4:22235400-22239600	Weak transcription	Brain Substantia Nigra	brain
4	chr4:22237600-22239600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:22238200-22239600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr4:22238400-22239800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:22238800-22240000	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr4:22238800-22240400	Enhancers	Brain Hippocampus Middle	brain
9	chr4:22239000-22239600	Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr4:22239000-22239600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr4:22239000-22239600	Active TSS	Liver	Liver
12	chr4:22239000-22240200	Active TSS	Duodenum Mucosa	Duodenum
13	chr4:22239000-22240200	Active TSS	Fetal Intestine Small	intestine
14	chr4:22239000-22240400	Active TSS	Colonic Mucosa	Colon
15	chr4:22239000-22240800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr4:22239200-22239600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:22239200-22239600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:22239200-22239800	Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr4:22239200-22240000	Active TSS	Primary T cells fromperipheralblood	blood
20	chr4:22239200-22240000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr4:22239200-22240200	Active TSS	Primary hematopoietic stem cells	blood
22	chr4:22239200-22240200	Active TSS	Ovary	ovary
23	chr4:22239200-22240200	Active TSS	Stomach Mucosa	stomach
24	chr4:22239400-22239600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:22239400-22239600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:22239400-22239800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr4:22239400-22239800	Active TSS	Primary B cells from cord blood	blood
28	chr4:22239400-22239800	Active TSS	Primary T cells from cord blood	blood
29	chr4:22239400-22240000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:22239400-22240000	Active TSS	Primary B cells from peripheral blood	blood
31	chr4:22239400-22240200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr4:22239400-22240200	Active TSS	Fetal Intestine Large	intestine
33	chr4:22239400-22240200	Enhancers	HepG2	liver
34	chr4:22239400-22240600	Enhancers	HUES64 Cell Line	embryonic stem cell

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