Variant report

Variant	rs390370
Chromosome Location	chr7:151046896-151046897
allele	A/G
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	NFIC	chr7:151046037-151047741	GM12878	blood:	n/a	n/a
2	ATF3	chr7:151046891-151047689	K562	blood:	n/a	n/a
3	POLR2A	chr7:151046780-151047662	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:151046420-151047745	GM12892	blood:	n/a	n/a
5	CTCF	chr7:151046457-151048825	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr7:151046868-151047752	K562	blood:	n/a	n/a
7	EP300	chr7:151046827-151047401	GM12878	blood:	n/a	n/a
8	NR2F2	chr7:151046425-151047870	K562	blood:	n/a	n/a
9	CUX1	chr7:151046634-151047535	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:151046576-151047628	GM12878	blood:	n/a	n/a
11	STAT1	chr7:151046850-151047559	K562	blood:	n/a	n/a
12	EBF1	chr7:151046176-151047586	GM12878	blood:	n/a	chr7:151046813-151046824
13	MYBL2	chr7:151046884-151047668	HepG2	liver:	n/a	n/a
14	ZNF143	chr7:151046746-151047730	GM12878	blood:	n/a	n/a
15	CTCF	chr7:151046746-151047797	K562	blood:	n/a	n/a
16	HEY1	chr7:151046870-151047675	K562	blood:	n/a	n/a
17	POLR2A	chr7:151046812-151047159	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:151046151-151047593	GM12878	blood:	n/a	n/a
19	SIN3A	chr7:151046567-151047592	GM12878	blood:	n/a	n/a
20	IRF4	chr7:151046892-151047749	GM12878	blood:	n/a	chr7:151047219-151047240
21	CCNT2	chr7:151046672-151047136	K562	blood:	n/a	n/a
22	FOSL1	chr7:151046882-151047250	K562	blood:	n/a	chr7:151047071-151047082
23	JUN	chr7:151046893-151047496	K562	blood:	n/a	chr7:151047171-151047184
24	PAX5	chr7:151046550-151047706	GM12878	blood:	n/a	chr7:151047299-151047318 chr7:151046747-151046756 chr7:151046709-151046728
25	POLR2A	chr7:151046392-151047669	GM12892	blood:	n/a	n/a
26	POLR2A	chr7:151046023-151047604	GM18505	blood:	n/a	n/a
27	SPI1	chr7:151046871-151047570	GM12878	blood:	n/a	n/a
28	JUND	chr7:151046888-151047438	HepG2	liver:	n/a	n/a
29	TRIM28	chr7:151046584-151047752	K562	blood:	n/a	n/a
30	TCF3	chr7:151046836-151047048	GM12878	blood:	n/a	n/a
31	IRF3	chr7:151046821-151046998	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:151046462-151047591	GM18526	blood:	n/a	n/a
33	TBL1XR1	chr7:151046558-151047593	K562	blood:	n/a	n/a
34	CTCF	chr7:151046760-151046910	GM12869	blood:	n/a	n/a
35	NRF1	chr7:151046696-151046972	GM12878	blood:	n/a	n/a
36	EBF1	chr7:151046689-151047684	GM12878	blood:	n/a	chr7:151046813-151046824
37	NFIC	chr7:151046894-151047615	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:151046714-151047488	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:151046696-151047178	HepG2	liver:	n/a	n/a
40	HEY1	chr7:151046854-151047712	K562	blood:	n/a	n/a
41	HEY1	chr7:151046772-151047677	HepG2	liver:	n/a	n/a
42	CREB1	chr7:151046849-151047628	GM12878	blood:	n/a	n/a
43	JUN	chr7:151046654-151047709	K562	blood:	n/a	chr7:151047171-151047184
44	SP1	chr7:151046828-151047690	GM12878	blood:	n/a	n/a
45	RCOR1	chr7:151046553-151047709	K562	blood:	n/a	n/a
46	POLR2A	chr7:151046625-151047606	K562	blood:	n/a	n/a
47	PML	chr7:151046249-151047696	GM12878	blood:	n/a	n/a
48	RELA	chr7:151046610-151047641	GM19099	blood:	n/a	n/a
49	CBX3	chr7:151046769-151047777	K562	blood:	n/a	n/a
50	JUN	chr7:151046882-151047727	K562	blood:	n/a	chr7:151047171-151047184

No.	Distal block	Cell Line	Cell type
1	chr7:151015904..151017496-chr7:151044887..151047703,2	K562	blood:
2	chr7:151039898..151044376-chr7:151046484..151049305,5	MCF-7	breast:
3	chr7:151006336..151009328-chr7:151045364..151047522,2	K562	blood:

Variant related genes	Relation type
NUB1	TF binding region
ENSG00000013374	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs386223	0.94[EUR][1000 genomes]
rs391303	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs405281	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs431281	0.94[EUR][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	esv1794696	chr7:151023630-151049503	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs390370	NUB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:151039400-151059000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:151039400-151069800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:151039800-151053000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:151040400-151048600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:151040400-151057400	Weak transcription	Fetal Heart	heart
6	chr7:151040600-151059400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:151040800-151047000	Strong transcription	Fetal Stomach	stomach
8	chr7:151040800-151047000	Weak transcription	Gastric	stomach
9	chr7:151041600-151061200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:151042000-151055400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:151042400-151047200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:151042400-151055800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:151042600-151055800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:151042600-151060400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:151043400-151047400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:151043600-151047000	Weak transcription	Fetal Brain Male	brain
17	chr7:151043600-151048200	Weak transcription	Right Ventricle	heart
18	chr7:151043600-151054000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:151043600-151056000	Strong transcription	Osteobl	bone
20	chr7:151043800-151047200	Weak transcription	Psoas Muscle	Psoas
21	chr7:151043800-151047200	Weak transcription	Right Atrium	heart
22	chr7:151043800-151048000	Weak transcription	Fetal Brain Female	brain
23	chr7:151043800-151048400	Weak transcription	NHEK	skin
24	chr7:151043800-151050400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:151044000-151048000	Weak transcription	NHDF-Ad	bronchial
26	chr7:151044000-151048400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:151044000-151048800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:151044200-151048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:151044600-151060800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:151044800-151047800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:151044800-151048000	Weak transcription	Lung	lung
32	chr7:151044800-151048200	Weak transcription	Aorta	Aorta
33	chr7:151044800-151048800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:151044800-151052000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:151044800-151052000	Weak transcription	Ovary	ovary
36	chr7:151045000-151047200	Weak transcription	Hela-S3	cervix
37	chr7:151045600-151049400	Strong transcription	HMEC	breast
38	chr7:151045600-151054000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:151045800-151047000	Flanking Active TSS	GM12878-XiMat	blood
40	chr7:151045800-151047200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr7:151045800-151054200	Strong transcription	HUVEC	blood vessel
42	chr7:151045800-151058200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:151046000-151047000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr7:151046000-151047400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr7:151046000-151047400	Strong transcription	HSMMtube	muscle
46	chr7:151046000-151050400	Strong transcription	Brain Cingulate Gyrus	brain
47	chr7:151046000-151053800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr7:151046200-151047000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr7:151046200-151047000	Strong transcription	HSMM	muscle
50	chr7:151046200-151047200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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