Variant report

Variant	rs538489058
Chromosome Location	chr12:50100375-50100376
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr12:50100216-50100710	GM12878	blood:	n/a	n/a
2	MYC	chr12:50100132-50100580	K562	blood:	n/a	n/a
3	RUNX3	chr12:50099117-50100376	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:50099264-50101397	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:50096226-50101443	GM12878	blood:	n/a	n/a
6	TAF1	chr12:50100199-50100422	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:50098513-50101410	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:50099022-50101605	HUVEC	blood vessel:	n/a	n/a
9	YY1	chr12:50100204-50100626	ECC-1	luminal epithelium:	n/a	chr12:50100388-50100398
10	POLR2A	chr12:50098607-50101521	GM18505	blood:	n/a	n/a
11	YY1	chr12:50100028-50100532	SK-N-SH_RA	brain:	n/a	chr12:50100388-50100398
12	POLR2A	chr12:50100355-50100523	ProgFib	skin:	n/a	n/a
13	POLR2A	chr12:50100240-50101528	GM19193	blood:	n/a	n/a
14	ZMIZ1	chr12:50100137-50100460	K562	blood:	n/a	n/a
15	RAD21	chr12:50099732-50101933	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr12:50098555-50100491	GM12891	blood:	n/a	n/a
17	MTA3	chr12:50098526-50100665	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:50099087-50101652	IMR90	lung:	n/a	n/a
19	CTCF	chr12:50100280-50100430	HCPEpiC	choroid plexus:	n/a	n/a
20	UBTF	chr12:50100375-50101478	K562	blood:	n/a	n/a
21	YY1	chr12:50100209-50100500	K562	blood:	n/a	chr12:50100388-50100398
22	STAT5A	chr12:50098515-50100747	GM12878	blood:	n/a	chr12:50100554-50100566
23	RUNX3	chr12:50099028-50100537	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:50100026-50101500	GM12892	blood:	n/a	n/a
25	POLR2A	chr12:50100359-50101590	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr12:50100029-50101550	HUVEC	blood vessel:	n/a	n/a
27	RELA	chr12:50098651-50100584	GM19099	blood:	n/a	n/a
28	RELA	chr12:50098640-50100637	GM18951	blood:	n/a	n/a
29	POLR2A	chr12:50098510-50100654	GM12892	blood:	n/a	n/a
30	SIN3A	chr12:50099979-50101643	H1-hESC	embryonic stem cell:	n/a	chr12:50100658-50100671 chr12:50101154-50101165
31	RAD21	chr12:50100069-50100478	IMR90	lung:	n/a	n/a
32	MAZ	chr12:50100101-50100547	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:50100224-50101456	GM12878	blood:	n/a	n/a
34	CHD1	chr12:50099004-50100438	GM12878	blood:	n/a	chr12:50100137-50100147
35	TBL1XR1	chr12:50100078-50100512	GM12878	blood:	n/a	n/a
36	BACH1	chr12:50100305-50100623	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:50098795-50101520	GM19099	blood:	n/a	n/a
38	CHD2	chr12:50099320-50100509	GM12878	blood:	n/a	chr12:50100137-50100147
39	CTCF	chr12:50100320-50100470	AG09309	skin:	n/a	n/a
40	YY1	chr12:50100247-50100524	SK-N-SH_RA	brain:	n/a	chr12:50100388-50100398
41	POLR2A	chr12:50100223-50100786	U87	brain:	n/a	n/a
42	MXI1	chr12:50099184-50101785	SK-N-SH	brain:	n/a	n/a
43	BCLAF1	chr12:50099137-50100731	GM12878	blood:	n/a	chr12:50099841-50099850
44	POLR2A	chr12:50098524-50100722	GM12891	blood:	n/a	n/a
45	POLR2A	chr12:50100135-50101694	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr12:50098264-50101331	GM12878	blood:	n/a	n/a
47	MTA3	chr12:50098448-50100715	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:50099052-50101471	GM12878	blood:	n/a	n/a
49	MAZ	chr12:50100303-50101728	K562	blood:	n/a	n/a
50	POLR2A	chr12:50100188-50101439	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50097894..50103527-chr12:50133840..50136991,8	K562	blood:
2	chr12:50097260..50102816-chr12:50134110..50137683,7	MCF-7	breast:
3	chr12:50035942..50038224-chr12:50100136..50103040,3	MCF-7	breast:
4	chr12:50096479..50103459-chr12:50133671..50138995,13	K562	blood:
5	chr12:50100220..50104044-chr12:50234202..50236972,3	K562	blood:
6	chr12:50080839..50082348-chr12:50098769..50100766,2	K562	blood:
7	chr12:50034899..50039875-chr12:50099580..50104040,10	MCF-7	breast:
8	chr12:50099890..50103139-chr12:50133844..50137712,5	MCF-7	breast:
9	chr12:50015541..50018481-chr12:50099736..50102606,3	MCF-7	breast:
10	chr12:50030686..50032288-chr12:50100112..50102042,2	MCF-7	breast:
11	chr12:50015702..50019275-chr12:50098468..50101444,3	MCF-7	breast:
12	chr12:50099618..50102364-chr12:50142236..50145462,3	K562	blood:
13	chr12:50035440..50045362-chr12:50096806..50104789,13	K562	blood:
14	chr12:50033388..50039946-chr12:50098324..50104633,12	K562	blood:
15	chr12:50092701..50095008-chr12:50097299..50100800,3	K562	blood:

No data

Variant related genes	Relation type
TMBIM6	TF binding region
ENSG00000257570	TF binding region
ENSG00000186666	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	esv3356835	chr12:50100110-50102658	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50097600-50100400	Weak transcription	Small Intestine	intestine
2	chr12:50098600-50100400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr12:50098600-50100400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr12:50098800-50100400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr12:50098800-50100400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:50098800-50100400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:50098800-50100600	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr12:50098800-50101600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr12:50099000-50100400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:50099000-50100600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:50099000-50101400	Active TSS	Left Ventricle	heart
12	chr12:50099000-50101600	Active TSS	Fetal Kidney	kidney
13	chr12:50099200-50100400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr12:50099200-50100400	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr12:50099200-50100400	Flanking Active TSS	HMEC	breast
16	chr12:50099200-50100600	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr12:50099200-50100600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:50099200-50100600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:50099200-50100600	Flanking Active TSS	Dnd41	blood
20	chr12:50099200-50100800	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr12:50099200-50101000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:50099200-50101400	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr12:50099400-50100400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:50099400-50100600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr12:50099400-50100600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr12:50099400-50100600	Flanking Active TSS	Fetal Thymus	thymus
27	chr12:50099400-50101200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:50099400-50101200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr12:50099400-50101600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:50099600-50100400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:50099600-50100400	Active TSS	Psoas Muscle	Psoas
32	chr12:50099600-50100400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:50099600-50100600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr12:50099600-50100600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr12:50099600-50100600	Enhancers	Fetal Heart	heart
36	chr12:50099600-50100800	Bivalent/Poised TSS	Colonic Mucosa	Colon
37	chr12:50099600-50101000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr12:50099600-50101200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr12:50099600-50101200	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr12:50099600-50101200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
41	chr12:50099600-50101200	Active TSS	Lung	lung
42	chr12:50099600-50101400	Active TSS	Ovary	ovary
43	chr12:50099600-50101400	Active TSS	Pancreas	Pancrea
44	chr12:50099600-50101400	Active TSS	Right Atrium	heart
45	chr12:50099600-50101400	Active TSS	NHLF	lung
46	chr12:50099600-50101600	Active TSS	Liver	Liver
47	chr12:50099600-50101600	Active TSS	Brain Anterior Caudate	brain
48	chr12:50099600-50101600	Active TSS	GM12878-XiMat	blood
49	chr12:50099600-50101800	Active TSS	HSMM	muscle
50	chr12:50099800-50100400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum

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