Variant report

Variant	rs2445801
Chromosome Location	chr5:80387551-80387552
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	chr5:80383984..80386036-chr5:80386317..80388050,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs252580	0.84[ASN][1000 genomes]
rs252581	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs465909	0.91[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]

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	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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2445801	FAM151B	cis	parietal	SCAN
rs2445801	AP3B1	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80343200-80394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:80373800-80393600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:80375000-80422600	Weak transcription	Left Ventricle	heart
4	chr5:80375200-80401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:80375600-80393600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:80375800-80400400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:80376800-80388400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:80377000-80401000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:80377600-80389800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:80382800-80400600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:80383000-80389200	Weak transcription	Spleen	Spleen
12	chr5:80383200-80388400	Weak transcription	Brain Substantia Nigra	brain
13	chr5:80383200-80409800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:80383200-80413600	Weak transcription	Ovary	ovary
15	chr5:80383400-80388400	Weak transcription	Brain Angular Gyrus	brain
16	chr5:80383400-80393800	Weak transcription	NHLF	lung
17	chr5:80383400-80400600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:80383400-80408400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:80383400-80414800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:80383400-80421600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:80383600-80392200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:80383600-80394200	Weak transcription	Small Intestine	intestine
23	chr5:80383600-80394400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:80383600-80400800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:80383600-80409000	Weak transcription	Adipose Nuclei	Adipose
26	chr5:80383600-80412600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:80383800-80394400	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:80383800-80400600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr5:80384200-80387800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr5:80384200-80389800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr5:80384200-80390200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:80384200-80393400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:80384200-80393600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:80384200-80400600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:80384400-80388400	Weak transcription	Primary T cells from cord blood	blood
36	chr5:80384400-80392200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:80384800-80388400	Weak transcription	HepG2	liver
38	chr5:80385600-80388600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:80387400-80389000	Weak transcription	Aorta	Aorta
40	chr5:80387400-80389200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:80387400-80394200	Weak transcription	Pancreas	Pancrea

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