Variant report

Variant	rs73391321
Chromosome Location	chr15:40528271-40528272
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	chr15:40526580..40529009-chr15:40601249..40602782,2	K562	blood:
2	chr15:40527496..40529447-chr15:40561736..40564505,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BUB1B-1	chr15:40525645-40528308	ENSG00000260648.1
2	lnc-BUB1B-1	chr15:40524283-40528308	ENSG00000260648.2

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1017842	1.00[EUR][1000 genomes]
rs16970425	1.00[EUR][1000 genomes]
rs58030495	1.00[EUR][1000 genomes]
rs60019318	1.00[EUR][1000 genomes]
rs61523420	1.00[EUR][1000 genomes]
rs73389518	1.00[EUR][1000 genomes]
rs73389528	1.00[EUR][1000 genomes]
rs73391311	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73391322	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73391327	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73392673	1.00[EUR][1000 genomes]
rs73392686	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv904095	chr15:40525430-40591570	Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv471240	chr15:40528155-40595627	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40455400-40530400	Weak transcription	Fetal Brain Female	brain
2	chr15:40455600-40530400	Weak transcription	Brain Germinal Matrix	brain
3	chr15:40492800-40530800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:40513200-40531200	Weak transcription	NHDF-Ad	bronchial
5	chr15:40513400-40530800	Weak transcription	A549	lung
6	chr15:40515400-40530600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:40516200-40530600	Weak transcription	Fetal Intestine Large	intestine
8	chr15:40517200-40530200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:40518200-40528600	Weak transcription	HUVEC	blood vessel
10	chr15:40519400-40529000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr15:40522200-40528800	Weak transcription	NHLF	lung
12	chr15:40522200-40530000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr15:40522400-40528600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr15:40522400-40528800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:40522400-40530400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:40522400-40530400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:40522400-40531800	Weak transcription	Gastric	stomach
18	chr15:40523600-40530400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:40523800-40528600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:40524000-40529200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:40524200-40528600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:40524400-40530800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:40524600-40528400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr15:40525200-40529200	Weak transcription	NH-A	brain
25	chr15:40525200-40530400	Weak transcription	Fetal Intestine Small	intestine
26	chr15:40525200-40530400	Weak transcription	Lung	lung
27	chr15:40525200-40530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:40525200-40531000	Weak transcription	Brain Anterior Caudate	brain
29	chr15:40525200-40531200	Weak transcription	Right Atrium	heart
30	chr15:40525400-40530600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:40525400-40531200	Weak transcription	Adipose Nuclei	Adipose
32	chr15:40526200-40530400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:40526600-40529600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:40526600-40530800	Weak transcription	Thymus	Thymus
35	chr15:40526800-40528400	Enhancers	Primary B cells from peripheral blood	blood
36	chr15:40527000-40530200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr15:40527200-40529400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr15:40527200-40530600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr15:40527400-40528400	Enhancers	NHEK	skin
40	chr15:40527600-40530400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:40527600-40530600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:40527600-40530600	Weak transcription	Placenta	Placenta
43	chr15:40527800-40530600	Weak transcription	Hela-S3	cervix
44	chr15:40527800-40531000	Weak transcription	K562	blood
45	chr15:40528000-40528400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr15:40528000-40528400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr15:40528000-40530400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:40528000-40530600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:40528000-40530600	Weak transcription	Esophagus	oesophagus
50	chr15:40528000-40530800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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