Variant report

Variant	rs528498663
Chromosome Location	chr12:120974275-120974276
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:120974170-120974627	T-47D	breast:	n/a	n/a
2	GATA3	chr12:120974267-120974553	SH-SY5Y	brain:	n/a	n/a
3	NRF1	chr12:120974252-120974598	GM12878	blood:	n/a	chr12:120974418-120974429
4	POLR2A	chr12:120974240-120974405	K562	blood:	n/a	n/a
5	GATA3	chr12:120974188-120974723	MCF-7	breast:	n/a	n/a
6	WRNIP1	chr12:120974143-120974492	GM12878	blood:	n/a	n/a
7	SIN3A	chr12:120974195-120974381	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:120973950-120974493	GM12878	blood:	n/a	n/a
9	FOXA2	chr12:120974212-120974454	HepG2	liver:	n/a	chr12:120974259-120974271
10	FOXA1	chr12:120974172-120974457	HepG2	liver:	n/a	chr12:120974259-120974271
11	FOXA1	chr12:120974112-120974543	HepG2	liver:	n/a	chr12:120974259-120974271
12	FOXA1	chr12:120974151-120974547	HepG2	liver:	n/a	chr12:120974259-120974271
13	GATA3	chr12:120974166-120974621	T-47D	breast:	n/a	n/a
14	GATA2	chr12:120974258-120974621	HUVEC	blood vessel:	n/a	n/a
15	ELF1	chr12:120974260-120974471	HepG2	liver:	n/a	n/a
16	FOXA1	chr12:120974139-120974541	HepG2	liver:	n/a	chr12:120974259-120974271
17	SIN3AK20	chr12:120974265-120974437	HepG2	liver:	n/a	n/a
18	GATA2	chr12:120974262-120974595	SH-SY5Y	brain:	n/a	n/a
19	POLR2A	chr12:120973957-120974675	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120727107..120731318-chr12:120971335..120975286,11	K562	blood:
2	chr12:120931985..120935585-chr12:120970035..120974742,8	MCF-7	breast:
3	chr12:120882042..120885526-chr12:120971268..120975128,6	K562	blood:
4	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
5	chr12:120874999..120877444-chr12:120972685..120975166,2	K562	blood:
6	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
7	chr12:120728052..120732322-chr12:120971723..120974902,6	MCF-7	breast:
8	chr12:120729040..120730997-chr12:120974004..120976288,2	MCF-7	breast:
9	chr12:120925184..120926895-chr12:120973583..120975847,2	K562	blood:
10	chr12:120973210..120975541-chr12:121135063..121137387,2	K562	blood:
11	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:

No data

Variant related genes	Relation type
COQ5	TF binding region
ENSG00000248008	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000111780	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr12:120971800-120974400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr12:120971800-120974400	Active TSS	Right Atrium	heart
3	chr12:120971800-120974600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr12:120972000-120974600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:120972000-120974800	Active TSS	Pancreas	Pancrea
6	chr12:120972000-120975000	Active TSS	Esophagus	oesophagus
7	chr12:120972000-120975000	Active TSS	Gastric	stomach
8	chr12:120972800-120975000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr12:120972800-120975600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:120972800-120977400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:120972800-120977600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:120973000-120974400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:120973000-120974400	Flanking Active TSS	Fetal Thymus	thymus
14	chr12:120973000-120974600	Flanking Active TSS	Fetal Brain Male	brain
15	chr12:120973000-120974600	Flanking Active TSS	HMEC	breast
16	chr12:120973000-120974800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr12:120973000-120974800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:120973000-120975000	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr12:120973000-120975000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr12:120973000-120975200	Flanking Active TSS	Liver	Liver
21	chr12:120973000-120975200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr12:120973000-120976000	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr12:120973000-120977200	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr12:120973000-120977400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:120973000-120980200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr12:120973200-120974400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:120973200-120974600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr12:120973200-120974800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr12:120973200-120975000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr12:120973200-120977000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr12:120973200-120977000	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr12:120973200-120977400	Flanking Active TSS	HUVEC	blood vessel
33	chr12:120973400-120974400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:120973400-120974400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:120973400-120974600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:120973400-120974600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr12:120973400-120974600	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr12:120973400-120974600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr12:120973400-120974600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr12:120973400-120974600	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr12:120973400-120974600	Transcr. at gene 5' and 3'	K562	blood
42	chr12:120973400-120974800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:120973400-120974800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
44	chr12:120973400-120975000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:120973400-120975000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:120973400-120975000	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr12:120973400-120975000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr12:120973400-120975200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:120973400-120976800	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr12:120973400-120984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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