Variant report

Variant	rs60389775
Chromosome Location	chr12:51611679-51611680
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr12:51611638-51612578	GM12878	blood:	n/a	n/a
2	TAF1	chr12:51610771-51612416	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr12:51611380-51611727	GM12878	blood:	n/a	n/a
4	ZNF384	chr12:51611663-51612008	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:51610900-51612491	GM19193	blood:	n/a	n/a
6	ELF1	chr12:51611652-51612063	K562	blood:	n/a	n/a
7	MAFK	chr12:51611667-51612008	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:51611638-51612072	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr12:51611595-51612513	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr12:51610867-51612051	H1-neurons	neurons:	n/a	n/a
11	POU2F2	chr12:51611619-51612297	GM12891	blood:	n/a	chr12:51611713-51611725 chr12:51611842-51611851
12	E2F4	chr12:51611642-51612004	MCF10A-Er-Src	breast:	n/a	chr12:51611853-51611861
13	POLR2A	chr12:51610958-51612941	Hela-S3	cervix:	n/a	n/a
14	CHD1	chr12:51610854-51612986	IMR90	lung:	n/a	chr12:51611399-51611409
15	POLR2A	chr12:51611534-51612224	U87	brain:	n/a	n/a
16	CHD2	chr12:51611582-51612488	Hela-S3	cervix:	n/a	n/a
17	ZBTB7A	chr12:51611362-51612497	ECC-1	luminal epithelium:	n/a	n/a
18	PML	chr12:51611636-51612070	K562	blood:	n/a	n/a
19	ZBTB7A	chr12:51610853-51612452	K562	blood:	n/a	n/a
20	MAX	chr12:51611642-51613038	H1-hESC	embryonic stem cell:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
21	ZNF384	chr12:51611575-51612229	K562	blood:	n/a	n/a
22	POLR2A	chr12:51610994-51612511	GM15510	blood:	n/a	n/a
23	POLR2A	chr12:51611382-51612436	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:51611426-51612988	K562	blood:	n/a	n/a
25	E2F6	chr12:51611591-51611773	K562	blood:	n/a	chr12:51611605-51611615 chr12:51611608-51611618
26	RCOR1	chr12:51611641-51612314	Hela-S3	cervix:	n/a	n/a
27	TAF1	chr12:51611345-51612358	H1-hESC	embryonic stem cell:	n/a	n/a
28	SMARCA4	chr12:51611551-51613578	K562	blood:	n/a	n/a
29	PML	chr12:51611644-51612366	K562	blood:	n/a	n/a
30	POLR2A	chr12:51611540-51612137	U87	brain:	n/a	n/a
31	MAX	chr12:51611586-51612995	K562	blood:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
32	CCNT2	chr12:51610840-51612115	K562	blood:	n/a	chr12:51611947-51611956 chr12:51611953-51611962 chr12:51611376-51611385
33	POLR2A	chr12:51611371-51612980	K562	blood:	n/a	n/a
34	JUND	chr12:51611645-51612117	A549	lung:	n/a	chr12:51611716-51611725
35	POLR2A	chr12:51611385-51611694	HCT-116	colon:	n/a	n/a
36	POU2F2	chr12:51611434-51612123	GM12878	blood:	n/a	chr12:51611713-51611725 chr12:51611842-51611851
37	HCFC1	chr12:51611662-51612224	K562	blood:	n/a	n/a
38	POLR2A	chr12:51611020-51612995	K562	blood:	n/a	n/a
39	CREB1	chr12:51611571-51612371	GM12878	blood:	n/a	n/a
40	SIN3AK20	chr12:51611640-51612299	SK-N-SH	brain:	n/a	n/a
41	TBP	chr12:51611512-51613048	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr12:51611530-51612590	PFSK-1	brain:	n/a	n/a
43	SP1	chr12:51611612-51612431	A549	lung:	n/a	chr12:51611949-51611963 chr12:51611708-51611721 chr12:51611953-51611962
44	POLR2A	chr12:51610866-51613022	K562	blood:	n/a	n/a
45	RUNX3	chr12:51611647-51612623	GM12878	blood:	n/a	n/a
46	TAF1	chr12:51611451-51612215	H1-neurons	neurons:	n/a	n/a
47	MXI1	chr12:51610714-51612782	IMR90	lung:	n/a	n/a
48	SP1	chr12:51611597-51612111	H1-hESC	embryonic stem cell:	n/a	chr12:51611949-51611963 chr12:51611708-51611721 chr12:51611953-51611962
49	POLR2A	chr12:51610820-51612931	K562	blood:	n/a	n/a
50	MTA3	chr12:51611561-51612804	GM12878	blood:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51441675..51442301-chr12:51611617..51612286,2	MCF-7	breast:
2	chr11:62420332..62421199-chr12:51611516..51612196,2	Hela-S3	cervix:
3	chr12:51611211..51612521-chr12:108954486..108955762,3	Hela-S3	cervix:
4	chr12:51611611..51612296-chr5:137805483..137805987,2	HCT-116	colon:
5	chr12:51441021..51443304-chr12:51610017..51612719,2	MCF-7	breast:
6	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
7	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:
8	chr12:51470450..51472551-chr12:51611525..51613316,2	K562	blood:
9	chr12:51611630..51613404-chr12:51614974..51616606,2	K562	blood:
10	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
11	chr12:51565491..51567919-chr12:51611128..51615638,5	K562	blood:
12	chr12:51610630..51613333-chr12:51630974..51632942,2	MCF-7	breast:
13	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
14	chr12:51474480..51479024-chr12:51609420..51613050,8	MCF-7	breast:
15	chr12:51611183..51613531-chr12:51631479..51634171,5	MCF-7	breast:
16	chr12:51611105..51614311-chr12:51630494..51636750,15	K562	blood:
17	chr12:51611474..51612337-chr19:19626938..19627537,2	Hela-S3	cervix:
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	chr12:51595711..51598749-chr12:51608220..51613018,6	K562	blood:
23	chr12:51610103..51612152-chr3:63848068..63850796,2	MCF-7	breast:
24	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
25	chr12:51600105..51601840-chr12:51611427..51613350,2	K562	blood:
26	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
ENSG00000135457	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000163634	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000186010	Chromatin interaction
ENSG00000075856	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000269339	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000110925	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51610200-51612200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr12:51610200-51612200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:51610200-51612200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:51610200-51612200	Active TSS	Muscle Satellite Cultured Cells	--
5	chr12:51610200-51612400	Active TSS	Fetal Kidney	kidney
6	chr12:51610200-51612400	Active TSS	Right Ventricle	heart
7	chr12:51610200-51612800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:51610400-51612200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:51610400-51612200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:51610400-51612200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:51610400-51612200	Active TSS	A549	lung
12	chr12:51610400-51612200	Active TSS	NHEK	skin
13	chr12:51610400-51612400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:51610400-51612600	Active TSS	Ovary	ovary
15	chr12:51610400-51612600	Active TSS	Psoas Muscle	Psoas
16	chr12:51610400-51613000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr12:51610600-51612000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:51610600-51612000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:51610600-51612000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:51610600-51612000	Weak transcription	Fetal Brain Male	brain
21	chr12:51610600-51612000	Active TSS	NHLF	lung
22	chr12:51610600-51612200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:51610600-51612200	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr12:51610600-51612200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:51610600-51612200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr12:51610600-51612200	Active TSS	Colonic Mucosa	Colon
27	chr12:51610600-51612200	Active TSS	Fetal Intestine Small	intestine
28	chr12:51610600-51612200	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr12:51610600-51612200	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr12:51610600-51612200	Active TSS	Hela-S3	cervix
31	chr12:51610600-51612200	Active TSS	HepG2	liver
32	chr12:51610600-51612400	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:51610600-51612400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:51610600-51612400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:51610600-51612400	Active TSS	Brain Angular Gyrus	brain
36	chr12:51610600-51612400	Active TSS	Brain Anterior Caudate	brain
37	chr12:51610600-51612400	Active TSS	Brain Hippocampus Middle	brain
38	chr12:51610600-51612400	Active TSS	Duodenum Mucosa	Duodenum
39	chr12:51610600-51612400	Active TSS	Left Ventricle	heart
40	chr12:51610600-51612400	Active TSS	Pancreas	Pancrea
41	chr12:51610600-51612400	Active TSS	Rectal Smooth Muscle	rectum
42	chr12:51610600-51612400	Active TSS	Small Intestine	intestine
43	chr12:51610600-51612400	Active TSS	NHDF-Ad	bronchial
44	chr12:51610600-51612600	Active TSS	Lung	lung
45	chr12:51610600-51612800	Active TSS	Aorta	Aorta
46	chr12:51610600-51612800	Active TSS	Colon Smooth Muscle	Colon
47	chr12:51610600-51613000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr12:51610800-51612000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:51610800-51612000	Active TSS	Primary hematopoietic stem cells	blood
50	chr12:51610800-51612000	Active TSS	Cortex derived primary cultured neurospheres	brain

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