Variant report

Variant	rs539775995
Chromosome Location	chr12:106695865-106695866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:183)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:183 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:106695442-106695972	Hela-S3	cervix:	n/a	n/a
2	MYC	chr12:106695415-106695989	K562	blood:	n/a	n/a
3	MAFK	chr12:106694568-106695910	K562	blood:	n/a	n/a
4	MAX	chr12:106695474-106695865	K562	blood:	n/a	n/a
5	CTCF	chr12:106695428-106695876	GM12878	blood:	n/a	n/a
6	BCLAF1	chr12:106695503-106695990	K562	blood:	n/a	chr12:106695847-106695856
7	MAFF	chr12:106695554-106695891	K562	blood:	n/a	n/a
8	HCFC1	chr12:106695452-106695918	K562	blood:	n/a	n/a
9	GATA2	chr12:106695339-106695993	K562	blood:	n/a	n/a
10	MAX	chr12:106695424-106695980	NB4	blood:	n/a	n/a
11	ZBTB7A	chr12:106695532-106696042	K562	blood:	n/a	n/a
12	MAX	chr12:106695420-106696102	K562	blood:	n/a	n/a
13	SRF	chr12:106695588-106695919	K562	blood:	n/a	n/a
14	HDAC2	chr12:106695445-106696015	K562	blood:	n/a	n/a
15	HEY1	chr12:106695481-106696057	HepG2	liver:	n/a	n/a
16	ATF3	chr12:106695512-106695916	K562	blood:	n/a	n/a
17	GATA1	chr12:106695530-106695937	K562	blood:	n/a	n/a
18	RCOR1	chr12:106695566-106696009	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:106695513-106695981	K562	blood:	n/a	n/a
20	POLR2A	chr12:106695490-106695955	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:106695468-106695977	K562	blood:	n/a	n/a
22	ELK1	chr12:106695539-106695893	Hela-S3	cervix:	n/a	n/a
23	FOXP2	chr12:106695764-106696062	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr12:106695635-106696009	GM12878	blood:	n/a	n/a
25	EBF1	chr12:106695372-106696056	GM12878	blood:	n/a	chr12:106695605-106695616
26	HDAC2	chr12:106695468-106696029	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAFK	chr12:106695516-106695988	Hela-S3	cervix:	n/a	n/a
28	CUX1	chr12:106695440-106695918	K562	blood:	n/a	n/a
29	EP300	chr12:106695121-106695896	K562	blood:	n/a	n/a
30	POLR2A	chr12:106695340-106695985	Hela-S3	cervix:	n/a	n/a
31	STAT5A	chr12:106695367-106695978	K562	blood:	n/a	n/a
32	RCOR1	chr12:106695439-106696005	GM12878	blood:	n/a	n/a
33	ZNF143	chr12:106695323-106695946	K562	blood:	n/a	n/a
34	SIN3A	chr12:106695459-106696033	H1-hESC	embryonic stem cell:	n/a	n/a
35	RCOR1	chr12:106695512-106695892	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr12:106695626-106696007	MCF-7	breast:	n/a	n/a
37	MAX	chr12:106695381-106696091	MCF-7	breast:	n/a	n/a
38	POLR2A	chr12:106695512-106695975	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:106695459-106695972	K562	blood:	n/a	n/a
40	FOXA1	chr12:106695317-106695909	HepG2	liver:	n/a	chr12:106695617-106695632
41	FOXA1	chr12:106695422-106696034	HepG2	liver:	n/a	chr12:106695617-106695632
42	TRIM28	chr12:106695353-106696068	K562	blood:	n/a	n/a
43	BRCA1	chr12:106695450-106695963	Hela-S3	cervix:	n/a	n/a
44	TEAD4	chr12:106695337-106696082	K562	blood:	n/a	n/a
45	CHD2	chr12:106695380-106697419	Hela-S3	cervix:	n/a	chr12:106696734-106696744 chr12:106696291-106696301
46	RCOR1	chr12:106695135-106697488	K562	blood:	n/a	n/a
47	MYC	chr12:106695135-106696053	K562	blood:	n/a	n/a
48	SMARCC1	chr12:106695036-106696029	Hela-S3	cervix:	n/a	n/a
49	TEAD4	chr12:106695076-106696171	K562	blood:	n/a	n/a
50	MXI1	chr12:106695196-106698197	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:106693946..106698218-chr12:106750404..106754111,7	MCF-7	breast:
2	chr12:106639346..106644112-chr12:106694122..106698214,13	MCF-7	breast:
3	chr12:106693434..106696954-chr12:106697519..106701215,4	MCF-7	breast:
4	chr12:106695715..106698780-chr12:106751795..106753760,4	K562	blood:
5	chr12:106694726..106698780-chr12:106749876..106753760,9	K562	blood:
6	chr12:106640063..106644049-chr12:106694395..106698756,11	MCF-7	breast:

No data

Variant related genes	Relation type
TCP11L2	TF binding region
ENSG00000136026	Chromatin interaction
ENSG00000166046	Chromatin interaction
ENSG00000258355	Chromatin interaction
ENSG00000013503	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	esv3399914	chr12:106695772-106696870	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106694600-106696000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr12:106695000-106696000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:106695000-106696000	Flanking Active TSS	Hela-S3	cervix
4	chr12:106695200-106696000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:106695200-106696000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr12:106695200-106696000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:106695200-106696000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:106695200-106696000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:106695200-106696000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr12:106695200-106696000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr12:106695200-106696000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr12:106695200-106696000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:106695200-106696000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:106695200-106696000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr12:106695200-106696000	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr12:106695200-106696000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr12:106695200-106696000	Flanking Active TSS	Stomach Mucosa	stomach
18	chr12:106695200-106696000	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr12:106695200-106696000	Flanking Active TSS	GM12878-XiMat	blood
20	chr12:106695200-106696000	Flanking Active TSS	HSMMtube	muscle
21	chr12:106695200-106696000	Flanking Active TSS	NHDF-Ad	bronchial
22	chr12:106695200-106696000	Flanking Active TSS	Osteobl	bone
23	chr12:106695200-106697600	Active TSS	Esophagus	oesophagus
24	chr12:106695400-106696000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr12:106695400-106696000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr12:106695400-106696000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr12:106695400-106696000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:106695400-106696000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:106695400-106696000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr12:106695400-106696000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:106695400-106696000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:106695400-106696000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:106695400-106696000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:106695400-106696000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:106695400-106696000	Flanking Active TSS	Liver	Liver
36	chr12:106695400-106696000	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr12:106695400-106696000	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr12:106695400-106696000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:106695400-106696000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:106695400-106696000	Flanking Active TSS	Colonic Mucosa	Colon
41	chr12:106695400-106696000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr12:106695400-106696000	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr12:106695400-106696000	Flanking Active TSS	Fetal Lung	lung
44	chr12:106695400-106696000	Flanking Active TSS	Fetal Thymus	thymus
45	chr12:106695400-106696000	Flanking Active TSS	Left Ventricle	heart
46	chr12:106695400-106696000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr12:106695400-106696000	Flanking Active TSS	Dnd41	blood
48	chr12:106695400-106696000	Flanking Active TSS	HSMM	muscle
49	chr12:106695400-106696000	Flanking Active TSS	HUVEC	blood vessel
50	chr12:106695400-106696000	Flanking Active TSS	K562	blood

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