Variant report

Variant	rs431281
Chromosome Location	chr7:151047671-151047672
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:149)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:149 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF3	chr7:151046918-151047676	GM12878	blood:	n/a	n/a
2	PAX5	chr7:151046917-151047699	GM12878	blood:	n/a	chr7:151047299-151047318
3	NFIC	chr7:151046037-151047741	GM12878	blood:	n/a	n/a
4	ATF3	chr7:151046891-151047689	K562	blood:	n/a	n/a
5	ELK1	chr7:151047384-151047860	K562	blood:	n/a	n/a
6	CTCF	chr7:151047420-151047690	LNCaP	prostate:	n/a	n/a
7	POLR2A	chr7:151046420-151047745	GM12892	blood:	n/a	n/a
8	CTCF	chr7:151047377-151047752	MCF-7	breast:	n/a	n/a
9	CTCF	chr7:151046457-151048825	SK-N-SH	brain:	n/a	n/a
10	RAD21	chr7:151047277-151047724	ECC-1	luminal epithelium:	n/a	n/a
11	CTCF	chr7:151047327-151047744	A549	lung:	n/a	n/a
12	RAD21	chr7:151047308-151047691	HepG2	liver:	n/a	n/a
13	MYBL2	chr7:151046968-151047712	HepG2	liver:	n/a	n/a
14	ZNF143	chr7:151047216-151047735	K562	blood:	n/a	n/a
15	CTCF	chr7:151046868-151047752	K562	blood:	n/a	n/a
16	CTCF	chr7:151047316-151047692	H1-hESC	embryonic stem cell:	n/a	n/a
17	NR2F2	chr7:151046425-151047870	K562	blood:	n/a	n/a
18	CTCF	chr7:151047389-151047684	MCF-7	breast:	n/a	n/a
19	CTCF	chr7:151047395-151047701	Gliobla	brain:	n/a	n/a
20	RAD21	chr7:151047376-151047747	HCT-116	colon:	n/a	n/a
21	CTCF	chr7:151047402-151047694	GM12878	blood:	n/a	n/a
22	FOXM1	chr7:151046936-151047714	GM12878	blood:	n/a	n/a
23	ZNF143	chr7:151046746-151047730	GM12878	blood:	n/a	n/a
24	CTCF	chr7:151046746-151047797	K562	blood:	n/a	n/a
25	HEY1	chr7:151046870-151047675	K562	blood:	n/a	n/a
26	RAD21	chr7:151047225-151047703	SK-N-SH_RA	brain:	n/a	n/a
27	SPI1	chr7:151046897-151047673	GM12878	blood:	n/a	n/a
28	IRF4	chr7:151046892-151047749	GM12878	blood:	n/a	chr7:151047219-151047240
29	CTCF	chr7:151047408-151047680	GM19239	blood:	n/a	n/a
30	CTCF	chr7:151047416-151047694	Lung_OC	lung:	n/a	n/a
31	CTCF	chr7:151047411-151047695	MCF-7	breast:	n/a	n/a
32	RAD21	chr7:151047343-151047735	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr7:151047396-151047687	GM12891	blood:	n/a	n/a
34	TEAD4	chr7:151047352-151047674	H1-hESC	embryonic stem cell:	n/a	n/a
35	PAX5	chr7:151046550-151047706	GM12878	blood:	n/a	chr7:151047299-151047318 chr7:151046747-151046756 chr7:151046709-151046728
36	CTCF	chr7:151047290-151047735	K562	blood:	n/a	n/a
37	TCF12	chr7:151047072-151047690	GM12878	blood:	n/a	n/a
38	CTCF	chr7:151047409-151047704	Kidney_OC	kidney:	n/a	n/a
39	TRIM28	chr7:151046584-151047752	K562	blood:	n/a	n/a
40	POU2F2	chr7:151047338-151047671	GM12878	blood:	n/a	n/a
41	CTCF	chr7:151047423-151047685	GM13977	blood:	n/a	n/a
42	TCF12	chr7:151047075-151047671	GM12878	blood:	n/a	n/a
43	CTCF	chr7:151047432-151047678	MCF-7	breast:	n/a	n/a
44	CTCF	chr7:151047242-151047707	A549	lung:	n/a	n/a
45	RAD21	chr7:151047387-151047737	A549	lung:	n/a	n/a
46	CTCF	chr7:151047429-151047692	ECC-1	luminal epithelium:	n/a	n/a
47	STAT2	chr7:151046907-151047693	K562	blood:	n/a	chr7:151047221-151047236 chr7:151047275-151047290
48	RAD21	chr7:151047355-151047728	A549	lung:	n/a	n/a
49	EBF1	chr7:151046689-151047684	GM12878	blood:	n/a	chr7:151046813-151046824
50	RAD21	chr7:151047345-151047717	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:151015904..151017496-chr7:151044887..151047703,2	K562	blood:
2	chr7:151007318..151008221-chr7:151047017..151047762,2	MCF-7	breast:
3	chr7:151039898..151044376-chr7:151046484..151049305,5	MCF-7	breast:
4	chr7:151011867..151012792-chr7:151046918..151048035,4	K562	blood:

No data

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

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs386223	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs390370	0.94[EUR][1000 genomes]
rs391303	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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	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
rs431281	NUB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr7:151041600-151061200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:151042000-151055400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:151042400-151055800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:151042600-151055800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:151042600-151060400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:151043600-151048200	Weak transcription	Right Ventricle	heart
13	chr7:151043600-151054000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:151043600-151056000	Strong transcription	Osteobl	bone
15	chr7:151043800-151048000	Weak transcription	Fetal Brain Female	brain
16	chr7:151043800-151048400	Weak transcription	NHEK	skin
17	chr7:151043800-151050400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:151044000-151048000	Weak transcription	NHDF-Ad	bronchial
19	chr7:151044000-151048400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:151044000-151048800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:151044200-151048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:151044600-151060800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:151044800-151047800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:151044800-151048000	Weak transcription	Lung	lung
25	chr7:151044800-151048200	Weak transcription	Aorta	Aorta
26	chr7:151044800-151048800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:151044800-151052000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:151044800-151052000	Weak transcription	Ovary	ovary
29	chr7:151045600-151049400	Strong transcription	HMEC	breast
30	chr7:151045600-151054000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:151045800-151054200	Strong transcription	HUVEC	blood vessel
32	chr7:151045800-151058200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:151046000-151050400	Strong transcription	Brain Cingulate Gyrus	brain
34	chr7:151046000-151053800	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr7:151046400-151048400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:151046400-151053600	Strong transcription	NHLF	lung
37	chr7:151046400-151055800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:151046600-151048200	Genic enhancers	Colon Smooth Muscle	Colon
39	chr7:151046600-151048200	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr7:151046600-151051000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:151046600-151054000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:151046600-151054400	Strong transcription	Brain Germinal Matrix	brain
43	chr7:151046600-151055800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:151046800-151047800	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr7:151046800-151048600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:151046800-151060000	Strong transcription	Fetal Lung	lung
47	chr7:151047000-151047800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:151047000-151047800	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr7:151047000-151047800	Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr7:151047000-151047800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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