Variant report

Variant	rs73391311
Chromosome Location	chr15:40526228-40526229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40525420-40526769	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr15:40525780-40527346	K562	blood:	n/a	n/a
3	CTCF	chr15:40526200-40526350	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40525172..40526720-chr15:40530276..40532745,2	K562	blood:
2	chr15:40509887..40512383-chr15:40524921..40526785,2	K562	blood:
3	chr15:40525148..40526892-chr15:40531058..40533768,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
PAK6	TF binding region
ENSG00000259288	Chromatin interaction
ENSG00000137843	Chromatin interaction

Extended variants
information (count: 14 )
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	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61523420	1.00[EUR][1000 genomes]
rs73389518	1.00[EUR][1000 genomes]
rs73389528	1.00[EUR][1000 genomes]
rs73391321	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73391322	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73391327	1.00[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:2 , 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

No data

Chromatin state (count:76 , 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	chr15:40475000-40526400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr15:40485400-40527600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:40491000-40526600	Weak transcription	Primary B cells from cord blood	blood
6	chr15:40491200-40527200	Strong transcription	Fetal Thymus	thymus
7	chr15:40492800-40530800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:40493400-40527000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:40503400-40526600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr15:40504400-40526400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:40513200-40531200	Weak transcription	NHDF-Ad	bronchial
12	chr15:40513400-40530800	Weak transcription	A549	lung
13	chr15:40514200-40526800	Weak transcription	Hela-S3	cervix
14	chr15:40515400-40530600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:40516200-40530600	Weak transcription	Fetal Intestine Large	intestine
16	chr15:40517200-40530200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:40518200-40528600	Weak transcription	HUVEC	blood vessel
18	chr15:40519400-40529000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr15:40519600-40526600	Strong transcription	Thymus	Thymus
20	chr15:40522200-40526800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:40522200-40526800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:40522200-40527000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:40522200-40528800	Weak transcription	NHLF	lung
24	chr15:40522200-40530000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr15:40522400-40528600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:40522400-40528800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:40522400-40530400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:40522400-40530400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:40522400-40531800	Weak transcription	Gastric	stomach
30	chr15:40523400-40526400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:40523600-40527000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:40523600-40530400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:40523800-40526600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:40523800-40528600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:40524000-40529200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:40524200-40528000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:40524200-40528200	Enhancers	HMEC	breast
38	chr15:40524200-40528600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr15:40524400-40526400	Weak transcription	GM12878-XiMat	blood
40	chr15:40524400-40527800	Enhancers	K562	blood
41	chr15:40524400-40528200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:40524400-40530800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:40524600-40527000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr15:40524600-40527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr15:40524600-40528000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:40524600-40528400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr15:40525200-40526600	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:40525200-40526800	Weak transcription	Fetal Stomach	stomach
49	chr15:40525200-40527000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:40525200-40529200	Weak transcription	NH-A	brain

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