Variant report

Variant	rs567855496
Chromosome Location	chr12:51612448-51612449
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:128)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:128 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr12:51611711-51612543	PFSK-1	brain:	n/a	n/a
2	RUNX3	chr12:51611638-51612578	GM12878	blood:	n/a	n/a
3	MXI1	chr12:51611728-51612859	HepG2	liver:	n/a	n/a
4	CTCF	chr12:51611712-51612512	K562	blood:	n/a	n/a
5	CTCF	chr12:51612300-51612450	AG09319	gingival:	n/a	n/a
6	POLR2A	chr12:51610900-51612491	GM19193	blood:	n/a	n/a
7	CTCF	chr12:51612300-51612450	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:51611595-51612513	HUVEC	blood vessel:	n/a	n/a
9	WRNIP1	chr12:51612024-51612873	GM12878	blood:	n/a	n/a
10	BCL3	chr12:51611952-51612585	A549	lung:	n/a	chr12:51612063-51612072
11	POLR2A	chr12:51611704-51612859	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:51610958-51612941	Hela-S3	cervix:	n/a	n/a
13	CHD1	chr12:51610854-51612986	IMR90	lung:	n/a	chr12:51611399-51611409
14	CHD2	chr12:51611582-51612488	Hela-S3	cervix:	n/a	n/a
15	ZBTB7A	chr12:51611362-51612497	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr12:51611692-51612867	Hela-S3	cervix:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
17	TEAD4	chr12:51611703-51612480	K562	blood:	n/a	n/a
18	CCNT2	chr12:51612358-51612850	K562	blood:	n/a	n/a
19	ZBTB7A	chr12:51610853-51612452	K562	blood:	n/a	n/a
20	EP300	chr12:51612187-51613149	GM12878	blood:	n/a	chr12:51612585-51612599
21	MAX	chr12:51611642-51613038	H1-hESC	embryonic stem cell:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
22	POLR2A	chr12:51610994-51612511	GM15510	blood:	n/a	n/a
23	MAX	chr12:51611704-51612583	GM12878	blood:	n/a	chr12:51611749-51611759 chr12:51612123-51612133
24	MAX	chr12:51611706-51612451	Hela-S3	cervix:	n/a	chr12:51611749-51611759 chr12:51612123-51612133
25	CTCF	chr12:51612320-51612470	HMF	breast:	n/a	n/a
26	MTA3	chr12:51612018-51612577	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:51611426-51612988	K562	blood:	n/a	n/a
28	POLR2A	chr12:51611715-51612832	GM12878	blood:	n/a	n/a
29	MAX	chr12:51611710-51612519	A549	lung:	n/a	chr12:51611749-51611759 chr12:51612123-51612133
30	SMARCA4	chr12:51611551-51613578	K562	blood:	n/a	n/a
31	MAX	chr12:51611586-51612995	K562	blood:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
32	POLR2A	chr12:51611371-51612980	K562	blood:	n/a	n/a
33	POLR2A	chr12:51611020-51612995	K562	blood:	n/a	n/a
34	CHD2	chr12:51611686-51612641	GM12878	blood:	n/a	n/a
35	TBP	chr12:51611512-51613048	H1-hESC	embryonic stem cell:	n/a	n/a
36	HDAC2	chr12:51612191-51612512	K562	blood:	n/a	chr12:51612208-51612216
37	MYC	chr12:51611682-51612722	NB4	blood:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
38	POLR2A	chr12:51611530-51612590	PFSK-1	brain:	n/a	n/a
39	STAT5A	chr12:51612275-51612671	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:51610866-51613022	K562	blood:	n/a	n/a
41	POLR2A	chr12:51611709-51612472	HUVEC	blood vessel:	n/a	n/a
42	FOSL2	chr12:51612135-51612671	A549	lung:	n/a	n/a
43	RUNX3	chr12:51611647-51612623	GM12878	blood:	n/a	n/a
44	MXI1	chr12:51611744-51612453	Hela-S3	cervix:	n/a	n/a
45	MYC	chr12:51611798-51612960	K562	blood:	n/a	chr12:51612123-51612133 chr12:51612673-51612683
46	MXI1	chr12:51610714-51612782	IMR90	lung:	n/a	n/a
47	POLR2A	chr12:51611744-51612481	Hela-S3	cervix:	n/a	n/a
48	MXI1	chr12:51611737-51612927	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:51610820-51612931	K562	blood:	n/a	n/a
50	POLR2A	chr12:51611878-51612797	PBDE	blood:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51157569..51160516-chr12:51611731..51613525,2	K562	blood:
2	chr12:51611211..51612521-chr12:108954486..108955762,3	Hela-S3	cervix:
3	chr12:51611953..51614531-chr12:51619084..51621846,2	MCF-7	breast:
4	chr12:51441021..51443304-chr12:51610017..51612719,2	MCF-7	breast:
5	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
6	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:
7	chr12:51470450..51472551-chr12:51611525..51613316,2	K562	blood:
8	chr12:51611630..51613404-chr12:51614974..51616606,2	K562	blood:
9	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
10	chr1:17231308..17231913-chr12:51612141..51612873,2	Hela-S3	cervix:
11	chr12:51565491..51567919-chr12:51611128..51615638,5	K562	blood:
12	chr12:51157569..51159359-chr12:51611731..51613454,2	K562	blood:
13	chr12:51610630..51613333-chr12:51630974..51632942,2	MCF-7	breast:
14	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
15	chr12:51474480..51479024-chr12:51609420..51613050,8	MCF-7	breast:
16	chr12:51611183..51613531-chr12:51631479..51634171,5	MCF-7	breast:
17	chr12:51611105..51614311-chr12:51630494..51636750,15	K562	blood:
18	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:
19	chr12:51418648..51420255-chr12:51610985..51612931,2	K562	blood:
20	chr12:51599853..51602841-chr12:51610727..51612927,3	K562	blood:
21	chr12:51440554..51443122-chr12:51610984..51612842,2	K562	blood:
22	chr12:51612109..51612903-chr12:51632289..51632985,2	K562	blood:
23	chr12:51157488..51160464-chr12:51611698..51613297,2	MCF-7	breast:
24	chr12:51595711..51598749-chr12:51608220..51613018,6	K562	blood:
25	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
26	chr12:51600105..51601840-chr12:51611427..51613350,2	K562	blood:
27	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAZAP2-3	chr12:51611479-51615172	NONHSAT028246

No data

Variant related genes	Relation type
POU6F1	TF binding region
ENSG00000075856	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000269339	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv558876	chr12:51591367-51612730	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3360919	chr12:51610110-51613058	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3439902	chr12:51610260-51612758	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3437746	chr12:51611385-51615983	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr12:51610200-51612800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:51610400-51612600	Active TSS	Ovary	ovary
3	chr12:51610400-51612600	Active TSS	Psoas Muscle	Psoas
4	chr12:51610400-51613000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:51610600-51612600	Active TSS	Lung	lung
6	chr12:51610600-51612800	Active TSS	Aorta	Aorta
7	chr12:51610600-51612800	Active TSS	Colon Smooth Muscle	Colon
8	chr12:51610600-51613000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr12:51610800-51612600	Active TSS	Brain Cingulate Gyrus	brain
10	chr12:51610800-51612600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr12:51610800-51612600	Active TSS	Esophagus	oesophagus
12	chr12:51611000-51612600	Active TSS	Gastric	stomach
13	chr12:51611600-51613000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:51612000-51612600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:51612000-51612600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
16	chr12:51612000-51612600	Flanking Active TSS	HSMMtube	muscle
17	chr12:51612000-51612800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr12:51612000-51612800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:51612000-51612800	Flanking Active TSS	Fetal Brain Male	brain
20	chr12:51612000-51612800	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr12:51612000-51613000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:51612000-51613000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:51612000-51613000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:51612000-51613000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr12:51612000-51613200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:51612000-51613200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:51612000-51613400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:51612000-51613400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:51612200-51612600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:51612200-51612600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr12:51612200-51612600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:51612200-51612600	Flanking Active TSS	Fetal Heart	heart
33	chr12:51612200-51612600	Active TSS	Right Atrium	heart
34	chr12:51612200-51612600	Flanking Active TSS	Thymus	Thymus
35	chr12:51612200-51612800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:51612200-51612800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:51612200-51612800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr12:51612200-51612800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr12:51612200-51612800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr12:51612200-51612800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:51612200-51612800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr12:51612200-51612800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr12:51612200-51612800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:51612200-51612800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:51612200-51612800	Flanking Active TSS	Liver	Liver
46	chr12:51612200-51612800	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr12:51612200-51612800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr12:51612200-51612800	Flanking Active TSS	Placenta	Placenta
49	chr12:51612200-51612800	Flanking Active TSS	Fetal Stomach	stomach
50	chr12:51612200-51612800	Flanking Active TSS	Stomach Mucosa	stomach

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