Variant report

Variant	rs521135
Chromosome Location	chr5:80288174-80288175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs500676	0.83[JPT][hapmap]
rs541624	0.83[JPT][hapmap]
rs559181	0.98[ASN][1000 genomes]
rs701394	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv4897	chr5:80284196-80330223	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs521135	ZCCHC9	cis	cerebellum	SCAN
rs521135	ARSB	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80278000-80293000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr5:80281400-80290800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr5:80281400-80290800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr5:80284400-80289400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:80284600-80289200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:80284600-80291600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:80284600-80294600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:80284800-80289400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:80285000-80295800	Weak transcription	Left Ventricle	heart
10	chr5:80285400-80288200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:80285600-80288400	Enhancers	Brain Hippocampus Middle	brain
12	chr5:80285600-80288800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:80286200-80288600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:80286400-80290600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:80286600-80293000	Weak transcription	Fetal Intestine Small	intestine
16	chr5:80286600-80299600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:80286800-80288200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:80286800-80288400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:80286800-80293000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:80286800-80299800	Weak transcription	Brain Angular Gyrus	brain
21	chr5:80287000-80288200	Enhancers	Right Atrium	heart
22	chr5:80287000-80288200	Enhancers	Right Ventricle	heart
23	chr5:80287000-80290000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr5:80287000-80291000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr5:80287200-80295800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:80287200-80299800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:80287400-80291800	Weak transcription	HepG2	liver
28	chr5:80287600-80288200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr5:80287800-80288200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:80287800-80288800	Enhancers	Brain Substantia Nigra	brain
31	chr5:80288000-80289200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:80288000-80293800	Weak transcription	Brain Anterior Caudate	brain
33	chr5:80288000-80294000	Enhancers	Primary T cells from cord blood	blood
34	chr5:80288000-80299600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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