Variant report

Variant	rs11070256
Chromosome Location	chr15:40520010-40520011
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40519735-40520085	K562	blood:	n/a	n/a
2	POLR2A	chr15:40519863-40520065	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr15:40519988-40520045	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr15:40519512-40520065	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40518528..40520573-chr15:40531819..40534123,2	MCF-7	breast:
2	chr15:40512621..40515097-chr15:40517622..40521894,3	K562	blood:

Variant related genes	Relation type
ENSG00000260648	TF binding region
ENSG00000137843	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12148261	1.00[CHD][hapmap]
rs17668261	1.00[CHD][hapmap]
rs17668415	1.00[CHD][hapmap]
rs1801389	1.00[CHD][hapmap]
rs3759843	1.00[CHD][hapmap]
rs7173181	1.00[CHD][hapmap]
rs8042702	0.83[ASN][1000 genomes]
rs900056	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11070256	RPUSD2	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40453800-40525000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:40454800-40524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:40455400-40530400	Weak transcription	Fetal Brain Female	brain
4	chr15:40455600-40522200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:40455600-40530400	Weak transcription	Brain Germinal Matrix	brain
6	chr15:40456200-40524000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:40456200-40524000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:40471400-40524400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:40473600-40525200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:40475000-40526400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:40475400-40522600	Strong transcription	Dnd41	blood
12	chr15:40481800-40524400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:40483000-40526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:40485400-40527600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:40486600-40521000	Weak transcription	Placenta	Placenta
16	chr15:40491000-40526600	Weak transcription	Primary B cells from cord blood	blood
17	chr15:40491200-40527200	Strong transcription	Fetal Thymus	thymus
18	chr15:40491600-40524600	Weak transcription	Fetal Heart	heart
19	chr15:40491800-40523200	Weak transcription	Esophagus	oesophagus
20	chr15:40492800-40524000	Weak transcription	Fetal Kidney	kidney
21	chr15:40492800-40530800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr15:40493400-40527000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr15:40496600-40524800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:40498800-40520600	Weak transcription	NHLF	lung
25	chr15:40502000-40521000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:40503400-40526600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr15:40504400-40521600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:40504400-40526400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:40506800-40524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:40508200-40524600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:40510000-40522400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr15:40511000-40521000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:40513200-40531200	Weak transcription	NHDF-Ad	bronchial
34	chr15:40513400-40530800	Weak transcription	A549	lung
35	chr15:40513600-40521400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr15:40513600-40526200	Weak transcription	HSMM	muscle
37	chr15:40514200-40526800	Weak transcription	Hela-S3	cervix
38	chr15:40514600-40521000	Weak transcription	NHEK	skin
39	chr15:40515400-40530600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:40515600-40523800	Weak transcription	HepG2	liver
41	chr15:40515600-40524200	Weak transcription	HMEC	breast
42	chr15:40515800-40524400	Weak transcription	Spleen	Spleen
43	chr15:40515800-40524800	Weak transcription	Fetal Lung	lung
44	chr15:40515800-40524800	Weak transcription	Stomach Mucosa	stomach
45	chr15:40516000-40520400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr15:40516000-40524400	Weak transcription	Fetal Intestine Small	intestine
47	chr15:40516200-40530600	Weak transcription	Fetal Intestine Large	intestine
48	chr15:40516600-40522600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr15:40516600-40525000	Weak transcription	NH-A	brain
50	chr15:40516800-40521200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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