Variant report

Variant	rs27650
Chromosome Location	chr5:80376142-80376143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80375500..80378381-chr5:80384547..80387171,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs153226	0.86[MKK][hapmap]
rs190408	0.86[CHB][hapmap];0.91[JPT][hapmap];0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs190409	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs252586	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs27650	AP3B1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80338200-80376200	Weak transcription	NHLF	lung
2	chr5:80343200-80394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:80344800-80382600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:80354200-80382400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:80364200-80384200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:80364200-80386200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:80364600-80382800	Weak transcription	Gastric	stomach
8	chr5:80368800-80384200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr5:80371600-80376200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:80371600-80376200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:80372000-80379000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:80372800-80377600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:80373000-80383600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:80373800-80393600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:80374400-80384800	Strong transcription	HepG2	liver
16	chr5:80374600-80377200	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr5:80374800-80376400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:80374800-80382600	Weak transcription	Fetal Intestine Large	intestine
19	chr5:80375000-80376200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:80375000-80376200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:80375000-80376800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:80375000-80377600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:80375000-80382400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:80375000-80382800	Weak transcription	Fetal Intestine Small	intestine
25	chr5:80375000-80382800	Weak transcription	Spleen	Spleen
26	chr5:80375000-80384400	Strong transcription	Primary T cells from cord blood	blood
27	chr5:80375000-80384400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:80375000-80422600	Weak transcription	Left Ventricle	heart
29	chr5:80375200-80382800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:80375200-80382800	Weak transcription	Aorta	Aorta
31	chr5:80375200-80401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:80375400-80376200	Weak transcription	Adipose Nuclei	Adipose
33	chr5:80375400-80376200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:80375400-80376200	Weak transcription	Brain Substantia Nigra	brain
35	chr5:80375400-80376400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:80375400-80376400	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:80375400-80377000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:80375400-80382800	Weak transcription	Lung	lung
39	chr5:80375400-80385600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:80375600-80376800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:80375600-80384600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:80375600-80393600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:80375800-80377600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:80375800-80377600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:80375800-80400400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:80376000-80376600	Enhancers	Ovary	ovary
47	chr5:80376000-80376800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:80376000-80377000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:80376000-80377600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:80376000-80378800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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