Variant report

Variant	rs143549413
Chromosome Location	chr12:51612303-51612304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:199)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:199 , 50 per page) page: 1 2 3 4

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	MYC	chr12:51611716-51612330	MCF10A-Er-Src	breast:	n/a	chr12:51611749-51611759 chr12:51612123-51612133
4	CTCF	chr12:51612280-51612430	Caco-2	colon:	n/a	n/a
5	POLR2A	chr12:51611723-51612374	GM12891	blood:	n/a	n/a
6	ZNF143	chr12:51612227-51612422	Hela-S3	cervix:	n/a	n/a
7	TAF1	chr12:51610771-51612416	ECC-1	luminal epithelium:	n/a	n/a
8	MXI1	chr12:51611728-51612859	HepG2	liver:	n/a	n/a
9	CTCF	chr12:51611712-51612512	K562	blood:	n/a	n/a
10	CTCF	chr12:51612300-51612450	AG09319	gingival:	n/a	n/a
11	POLR2A	chr12:51610900-51612491	GM19193	blood:	n/a	n/a
12	CTCF	chr12:51612300-51612450	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:51611595-51612513	HUVEC	blood vessel:	n/a	n/a
14	E2F6	chr12:51612018-51612378	K562	blood:	n/a	chr12:51612305-51612312
15	WRNIP1	chr12:51612024-51612873	GM12878	blood:	n/a	n/a
16	BCL3	chr12:51611952-51612585	A549	lung:	n/a	chr12:51612063-51612072
17	POLR2A	chr12:51611704-51612859	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:51610958-51612941	Hela-S3	cervix:	n/a	n/a
19	CHD1	chr12:51610854-51612986	IMR90	lung:	n/a	chr12:51611399-51611409
20	CHD2	chr12:51611582-51612488	Hela-S3	cervix:	n/a	n/a
21	ZBTB7A	chr12:51611362-51612497	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr12:51611692-51612867	Hela-S3	cervix:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
23	SMC3	chr12:51611712-51612411	Hela-S3	cervix:	n/a	n/a
24	TEAD4	chr12:51611703-51612480	K562	blood:	n/a	n/a
25	ZBTB7A	chr12:51610853-51612452	K562	blood:	n/a	n/a
26	EP300	chr12:51612187-51613149	GM12878	blood:	n/a	chr12:51612585-51612599
27	MAX	chr12:51611642-51613038	H1-hESC	embryonic stem cell:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
28	POLR2A	chr12:51610994-51612511	GM15510	blood:	n/a	n/a
29	MAX	chr12:51611704-51612583	GM12878	blood:	n/a	chr12:51611749-51611759 chr12:51612123-51612133
30	MAX	chr12:51611706-51612451	Hela-S3	cervix:	n/a	chr12:51611749-51611759 chr12:51612123-51612133
31	POLR2A	chr12:51611382-51612436	GM12878	blood:	n/a	n/a
32	GTF2B	chr12:51611813-51612393	K562	blood:	n/a	n/a
33	MTA3	chr12:51612018-51612577	GM12878	blood:	n/a	n/a
34	POLR2A	chr12:51611426-51612988	K562	blood:	n/a	n/a
35	POLR2A	chr12:51611715-51612832	GM12878	blood:	n/a	n/a
36	RCOR1	chr12:51611641-51612314	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr12:51611769-51612422	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr12:51611345-51612358	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr12:51611710-51612519	A549	lung:	n/a	chr12:51611749-51611759 chr12:51612123-51612133
40	SMARCA4	chr12:51611551-51613578	K562	blood:	n/a	n/a
41	PML	chr12:51611644-51612366	K562	blood:	n/a	n/a
42	MAX	chr12:51611586-51612995	K562	blood:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
43	CTCF	chr12:51612220-51612370	Caco-2	colon:	n/a	n/a
44	POLR2A	chr12:51611371-51612980	K562	blood:	n/a	n/a
45	POLR2A	chr12:51611849-51612307	A549	lung:	n/a	n/a
46	POLR2A	chr12:51611020-51612995	K562	blood:	n/a	n/a
47	TBP	chr12:51612031-51612415	HepG2	liver:	n/a	n/a
48	POLR2A	chr12:51611803-51612349	A549	lung:	n/a	n/a
49	CHD2	chr12:51611686-51612641	GM12878	blood:	n/a	n/a
50	CREB1	chr12:51611571-51612371	GM12878	blood:	n/a	n/a

No data

(count:28 , 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	chr12:51611474..51612337-chr19:19626938..19627537,2	Hela-S3	cervix:
19	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:
20	chr12:51418648..51420255-chr12:51610985..51612931,2	K562	blood:
21	chr12:51599853..51602841-chr12:51610727..51612927,3	K562	blood:
22	chr12:51440554..51443122-chr12:51610984..51612842,2	K562	blood:
23	chr12:51612109..51612903-chr12:51632289..51632985,2	K562	blood:
24	chr12:51157488..51160464-chr12:51611698..51613297,2	MCF-7	breast:
25	chr12:51595711..51598749-chr12:51608220..51613018,6	K562	blood:
26	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
27	chr12:51600105..51601840-chr12:51611427..51613350,2	K562	blood:
28	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
ENSG00000110925	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000269339	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000075856	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000186010	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	chr12:51610200-51612400	Active TSS	Fetal Kidney	kidney
2	chr12:51610200-51612400	Active TSS	Right Ventricle	heart
3	chr12:51610200-51612800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:51610400-51612400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr12:51610400-51612600	Active TSS	Ovary	ovary
6	chr12:51610400-51612600	Active TSS	Psoas Muscle	Psoas
7	chr12:51610400-51613000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:51610600-51612400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:51610600-51612400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:51610600-51612400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:51610600-51612400	Active TSS	Brain Angular Gyrus	brain
12	chr12:51610600-51612400	Active TSS	Brain Anterior Caudate	brain
13	chr12:51610600-51612400	Active TSS	Brain Hippocampus Middle	brain
14	chr12:51610600-51612400	Active TSS	Duodenum Mucosa	Duodenum
15	chr12:51610600-51612400	Active TSS	Left Ventricle	heart
16	chr12:51610600-51612400	Active TSS	Pancreas	Pancrea
17	chr12:51610600-51612400	Active TSS	Rectal Smooth Muscle	rectum
18	chr12:51610600-51612400	Active TSS	Small Intestine	intestine
19	chr12:51610600-51612400	Active TSS	NHDF-Ad	bronchial
20	chr12:51610600-51612600	Active TSS	Lung	lung
21	chr12:51610600-51612800	Active TSS	Aorta	Aorta
22	chr12:51610600-51612800	Active TSS	Colon Smooth Muscle	Colon
23	chr12:51610600-51613000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr12:51610800-51612400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:51610800-51612400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:51610800-51612400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:51610800-51612400	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr12:51610800-51612400	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr12:51610800-51612400	Active TSS	Fetal Brain Female	brain
30	chr12:51610800-51612400	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr12:51610800-51612600	Active TSS	Brain Cingulate Gyrus	brain
32	chr12:51610800-51612600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr12:51610800-51612600	Active TSS	Esophagus	oesophagus
34	chr12:51611000-51612400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:51611000-51612400	Active TSS	Primary B cells from peripheral blood	blood
36	chr12:51611000-51612400	Active TSS	Primary T cells from cord blood	blood
37	chr12:51611000-51612400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:51611000-51612400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:51611000-51612400	Active TSS	Placenta Amnion	Placenta Amnion
40	chr12:51611000-51612400	Active TSS	Spleen	Spleen
41	chr12:51611000-51612600	Active TSS	Gastric	stomach
42	chr12:51611200-51612400	Active TSS	GM12878-XiMat	blood
43	chr12:51611600-51612400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
44	chr12:51611600-51613000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:51612000-51612400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:51612000-51612400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:51612000-51612400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:51612000-51612400	Flanking Active TSS	NHLF	lung
49	chr12:51612000-51612600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:51612000-51612600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus

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