Variant report

Variant	rs73261992
Chromosome Location	chr12:10765360-10765361
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:10765298-10765607	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:10764611-10766584	H1-hESC	embryonic stem cell:	n/a	n/a
3	PML	chr12:10765318-10766763	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:10765294-10766489	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr12:10765323-10766713	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:10764397-10767179	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:10764557-10765685	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:10765176-10765717	ECC-1	luminal epithelium:	n/a	n/a
9	HCFC1	chr12:10765011-10767004	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:10765341-10765621	ProgFib	skin:	n/a	n/a
11	POLR2A	chr12:10765256-10765685	GM12892	blood:	n/a	n/a
12	POLR2A	chr12:10765263-10766565	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:10765155-10767101	PBDE	blood:	n/a	n/a
14	JUND	chr12:10765196-10767091	SK-N-SH	brain:	n/a	chr12:10766189-10766198
15	POLR2A	chr12:10765205-10765727	HepG2	liver:	n/a	n/a
16	POLR2A	chr12:10765252-10765584	GM12891	blood:	n/a	n/a
17	CREB1	chr12:10765273-10766717	GM12878	blood:	n/a	chr12:10766187-10766200
18	WRNIP1	chr12:10765338-10766744	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:10765299-10767010	GM19193	blood:	n/a	n/a
20	POLR2A	chr12:10764544-10767138	GM18505	blood:	n/a	n/a
21	TAF1	chr12:10765258-10766555	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:10765321-10765626	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr12:10764974-10767096	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr12:10765262-10765606	GM12891	blood:	n/a	n/a
25	POLR2A	chr12:10765290-10766553	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:10765309-10766538	Hela-S3	cervix:	n/a	n/a
27	MYC	chr12:10765204-10766548	K562	blood:	n/a	chr12:10766012-10766019
28	POLR2A	chr12:10765160-10766944	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr12:10764431-10767480	GM12891	blood:	n/a	n/a
30	POLR2A	chr12:10765196-10766748	GM12892	blood:	n/a	n/a
31	POLR2A	chr12:10765291-10765585	GM12891	blood:	n/a	n/a
32	POLR2A	chr12:10764541-10767013	IMR90	lung:	n/a	n/a
33	POLR2A	chr12:10764392-10767145	GM12878	blood:	n/a	n/a
34	POLR2A	chr12:10765259-10766588	HL-60	blood:	n/a	n/a
35	POLR2A	chr12:10765317-10767037	GM12892	blood:	n/a	n/a
36	SIN3A	chr12:10765110-10766726	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:10765250-10767023	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr12:10765240-10767135	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:10765242-10766630	GM18951	blood:	n/a	n/a
40	MXI1	chr12:10765314-10766873	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:10765246-10765879	GM12892	blood:	n/a	n/a
42	TBP	chr12:10765319-10766587	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr12:10765220-10766953	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:10765340-10766645	K562	blood:	n/a	n/a
45	MAFK	chr12:10765289-10765459	HepG2	liver:	n/a	n/a
46	POLR2A	chr12:10765269-10766798	GM19099	blood:	n/a	n/a
47	POLR2A	chr12:10765149-10767080	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr12:10759407-10766713	K562	blood:	n/a	n/a
49	POLR2A	chr12:10765143-10766680	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:10765258-10767202	HUVEC	blood vessel:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10754715..10757719-chr12:10762132..10766161,5	MCF-7	breast:
2	chr12:10763668..10768180-chr12:10873034..10877438,4	K562	blood:
3	chr12:10764890..10767963-chr12:10824892..10828037,6	MCF-7	breast:
4	chr12:10757768..10761323-chr12:10763648..10767654,5	MCF-7	breast:
5	chr12:10759828..10762348-chr12:10763400..10769792,9	K562	blood:
6	chr12:10763668..10768484-chr12:10873757..10876876,5	K562	blood:

No data

Variant related genes	Relation type
MAGOHB	TF binding region
ENSG00000060138	Chromatin interaction
ENSG00000060140	Chromatin interaction
ENSG00000111196	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs73257957	0.93[AFR][1000 genomes]
rs73257964	0.93[AFR][1000 genomes]
rs73257985	0.93[AFR][1000 genomes]
rs73257988	0.93[AFR][1000 genomes]
rs73261989	1.00[AFR][1000 genomes]
rs7953357	0.93[AFR][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	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10743400-10765400	Weak transcription	Gastric	stomach
2	chr12:10744000-10765400	Weak transcription	Aorta	Aorta
3	chr12:10744200-10765400	Weak transcription	Esophagus	oesophagus
4	chr12:10753600-10765400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:10763000-10765400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:10764400-10765400	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr12:10764400-10765600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:10764600-10765400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:10764600-10765400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:10764600-10765400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:10764600-10765400	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:10764600-10765400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:10764600-10765400	Enhancers	Small Intestine	intestine
14	chr12:10764600-10765400	Flanking Active TSS	Hela-S3	cervix
15	chr12:10764600-10765600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:10764600-10765600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:10764600-10765600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr12:10764600-10765600	Transcr. at gene 5' and 3'	A549	lung
19	chr12:10764600-10765600	Flanking Active TSS	HMEC	breast
20	chr12:10764600-10765600	Flanking Active TSS	HUVEC	blood vessel
21	chr12:10764600-10765600	Flanking Active TSS	Osteobl	bone
22	chr12:10764600-10765800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr12:10764600-10765800	Flanking Active TSS	Liver	Liver
24	chr12:10764600-10765800	Flanking Active TSS	Fetal Brain Female	brain
25	chr12:10764600-10766800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:10764600-10766800	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr12:10764600-10767000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:10764600-10767200	Active TSS	K562	blood
29	chr12:10764800-10765400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:10764800-10765400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr12:10764800-10765400	Enhancers	Placenta	Placenta
32	chr12:10764800-10765400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr12:10764800-10765600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr12:10764800-10765600	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr12:10764800-10765600	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr12:10764800-10765600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:10764800-10765600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr12:10764800-10765600	Flanking Active TSS	Fetal Lung	lung
39	chr12:10764800-10765600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr12:10764800-10765600	Flanking Active TSS	NHEK	skin
41	chr12:10764800-10765800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr12:10764800-10766000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:10764800-10766000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:10764800-10766800	Active TSS	GM12878-XiMat	blood
45	chr12:10764800-10767000	Active TSS	H1 Cell Line	embryonic stem cell
46	chr12:10764800-10767000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr12:10764800-10767000	Active TSS	Fetal Intestine Large	intestine
48	chr12:10764800-10767000	Active TSS	Right Ventricle	heart
49	chr12:10764800-10767200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:10764800-10767200	Active TSS	HUES48 Cell Line	embryonic stem cell

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