Variant report

Variant	rs535406931
Chromosome Location	chr12:120974465-120974466
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 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	GATA3	chr12:120974188-120974723	MCF-7	breast:	n/a	n/a
5	WRNIP1	chr12:120974143-120974492	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:120973950-120974493	GM12878	blood:	n/a	n/a
7	FOXA1	chr12:120974112-120974543	HepG2	liver:	n/a	chr12:120974259-120974271
8	FOXA1	chr12:120974151-120974547	HepG2	liver:	n/a	chr12:120974259-120974271
9	GATA3	chr12:120974166-120974621	T-47D	breast:	n/a	n/a
10	GATA2	chr12:120974258-120974621	HUVEC	blood vessel:	n/a	n/a
11	ELF1	chr12:120974260-120974471	HepG2	liver:	n/a	n/a
12	FOXA1	chr12:120974139-120974541	HepG2	liver:	n/a	chr12:120974259-120974271
13	GATA2	chr12:120974262-120974595	SH-SY5Y	brain:	n/a	n/a
14	POLR2A	chr12:120973957-120974675	GM12878	blood:	n/a	n/a

No data

(count:14 , 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	chr12:120974402..120975933-chr12:120988975..120990489,2	MCF-7	breast:
4	chr12:120882042..120885526-chr12:120971268..120975128,6	K562	blood:
5	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
6	chr12:120874999..120877444-chr12:120972685..120975166,2	K562	blood:
7	chr12:120974437..120977304-chr12:120987855..120989624,2	K562	blood:
8	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
9	chr12:120728052..120732322-chr12:120971723..120974902,6	MCF-7	breast:
10	chr12:120729040..120730997-chr12:120974004..120976288,2	MCF-7	breast:
11	chr12:120925184..120926895-chr12:120973583..120975847,2	K562	blood:
12	chr12:120973210..120975541-chr12:121135063..121137387,2	K562	blood:
13	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:
14	chr12:120965752..120968769-chr12:120974337..120978260,3	MCF-7	breast:

No data

Variant related genes	Relation type
COQ5	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000248008	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	chr12:120971800-120974600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr12:120972000-120974600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:120972000-120974800	Active TSS	Pancreas	Pancrea
4	chr12:120972000-120975000	Active TSS	Esophagus	oesophagus
5	chr12:120972000-120975000	Active TSS	Gastric	stomach
6	chr12:120972800-120975000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr12:120972800-120975600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr12:120972800-120977400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr12:120972800-120977600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:120973000-120974600	Flanking Active TSS	Fetal Brain Male	brain
11	chr12:120973000-120974600	Flanking Active TSS	HMEC	breast
12	chr12:120973000-120974800	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr12:120973000-120974800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:120973000-120975000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr12:120973000-120975000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr12:120973000-120975200	Flanking Active TSS	Liver	Liver
17	chr12:120973000-120975200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr12:120973000-120976000	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr12:120973000-120977200	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr12:120973000-120977400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:120973000-120980200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr12:120973200-120974600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr12:120973200-120974800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr12:120973200-120975000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr12:120973200-120977000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr12:120973200-120977000	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr12:120973200-120977400	Flanking Active TSS	HUVEC	blood vessel
28	chr12:120973400-120974600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:120973400-120974600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr12:120973400-120974600	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr12:120973400-120974600	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr12:120973400-120974600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr12:120973400-120974600	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr12:120973400-120974600	Transcr. at gene 5' and 3'	K562	blood
35	chr12:120973400-120974800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:120973400-120974800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
37	chr12:120973400-120975000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:120973400-120975000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:120973400-120975000	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr12:120973400-120975000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr12:120973400-120975200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:120973400-120976800	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr12:120973400-120984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:120973600-120974600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
45	chr12:120973600-120974600	Transcr. at gene 5' and 3'	HSMM	muscle
46	chr12:120973600-120974800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr12:120973600-120974800	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr12:120973600-120974800	Transcr. at gene 5' and 3'	A549	lung
49	chr12:120973600-120975000	Flanking Active TSS	Placenta	Placenta
50	chr12:120973600-120975200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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