Variant report

Variant	rs187351672
Chromosome Location	chr12:51612805-51612806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:61)
Chromatin interactive
region (count:26)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr12:51612699-51612918	K562	blood:	n/a	n/a
2	MXI1	chr12:51611728-51612859	HepG2	liver:	n/a	n/a
3	WRNIP1	chr12:51612024-51612873	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:51611704-51612859	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:51610958-51612941	Hela-S3	cervix:	n/a	n/a
6	CHD1	chr12:51610854-51612986	IMR90	lung:	n/a	chr12:51611399-51611409
7	MAX	chr12:51611692-51612867	Hela-S3	cervix:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
8	CCNT2	chr12:51612358-51612850	K562	blood:	n/a	n/a
9	SMC3	chr12:51612623-51612919	Hela-S3	cervix:	n/a	chr12:51612791-51612799
10	EP300	chr12:51612187-51613149	GM12878	blood:	n/a	chr12:51612585-51612599
11	MAX	chr12:51611642-51613038	H1-hESC	embryonic stem cell:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
12	POLR2A	chr12:51612545-51612971	H1-hESC	embryonic stem cell:	n/a	n/a
13	CBX3	chr12:51612452-51613033	K562	blood:	n/a	n/a
14	POLR2A	chr12:51611426-51612988	K562	blood:	n/a	n/a
15	POLR2A	chr12:51611715-51612832	GM12878	blood:	n/a	n/a
16	E2F6	chr12:51612547-51612900	K562	blood:	n/a	n/a
17	RFX5	chr12:51612655-51612997	K562	blood:	n/a	n/a
18	YY1	chr12:51612677-51612976	K562	blood:	n/a	n/a
19	SMARCA4	chr12:51611551-51613578	K562	blood:	n/a	n/a
20	MAX	chr12:51611586-51612995	K562	blood:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
21	POLR2A	chr12:51611371-51612980	K562	blood:	n/a	n/a
22	POLR2A	chr12:51612741-51612921	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr12:51611020-51612995	K562	blood:	n/a	n/a
24	TBP	chr12:51611512-51613048	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr12:51612740-51612890	HEK293	kidney:	n/a	n/a
26	POLR2A	chr12:51610866-51613022	K562	blood:	n/a	n/a
27	MYC	chr12:51611798-51612960	K562	blood:	n/a	chr12:51612123-51612133 chr12:51612673-51612683
28	HEY1	chr12:51612557-51612977	K562	blood:	n/a	n/a
29	TAF1	chr12:51612543-51612944	K562	blood:	n/a	n/a
30	GTF2F1	chr12:51612761-51612833	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:51612784-51612814	MCF-7	breast:	n/a	n/a
32	MXI1	chr12:51611737-51612927	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:51610820-51612931	K562	blood:	n/a	n/a
34	POLR2A	chr12:51611863-51613295	HepG2	liver:	n/a	n/a
35	ZC3H11A	chr12:51612518-51613012	K562	blood:	n/a	n/a
36	SMARCB1	chr12:51610767-51612917	Hela-S3	cervix:	n/a	n/a
37	JUND	chr12:51611633-51613082	K562	blood:	n/a	chr12:51611716-51611725
38	POLR2A	chr12:51611350-51612886	GM12892	blood:	n/a	n/a
39	POLR2A	chr12:51611825-51612939	K562	blood:	n/a	n/a
40	POLR2A	chr12:51611713-51612836	GM12891	blood:	n/a	n/a
41	RCOR1	chr12:51612279-51612965	K562	blood:	n/a	n/a
42	POLR2A	chr12:51611350-51612979	SK-N-MC	brain:	n/a	n/a
43	MXI1	chr12:51610757-51612837	SK-N-SH	brain:	n/a	n/a
44	CHD2	chr12:51612724-51612890	HepG2	liver:	n/a	n/a
45	TAF1	chr12:51612481-51612946	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr12:51611706-51613015	HepG2	liver:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
47	POLR2A	chr12:51612693-51612948	Hela-S3	cervix:	n/a	n/a
48	IRF1	chr12:51611755-51612896	K562	blood:	n/a	chr12:51612073-51612084
49	TBL1XR1	chr12:51611872-51612932	K562	blood:	n/a	n/a
50	ZNF263	chr12:51611815-51613463	HEK293-T-REx	kidney:	n/a	chr12:51612600-51612609

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:51612794-51612844	AG09319	gingival:	n/a
2	chr12:51612794-51612844	AG10803	skin:	n/a
3	chr12:51612794-51612844	H1-hESC	embryonic stem cell:	embryo
4	chr12:51612794-51612844	NB4	blood:	n/a
5	chr12:51612794-51612844	SK-N-SH	brain:	n/a
6	chr12:51612794-51612844	BE2_C	brain:	n/a
7	chr12:51612794-51612844	HIPEpiC	eye:	n/a
8	chr12:51612794-51612844	HEEpiC	esophagus:	n/a
9	chr12:51612794-51612844	U87	brain:	n/a
10	chr12:51612794-51612844	SK-N-MC	brain:	n/a
11	chr12:51612794-51612844	GM12892	blood:	n/a
12	chr12:51612794-51612844	HCPEpiC	choroid plexus:	n/a
13	chr12:51612794-51612844	AG04450	lung:	fetal
14	chr12:51612794-51612844	NHBE	bronchial:	n/a
15	chr12:51612794-51612844	SAEC	small airway:	n/a
16	chr12:51612794-51612844	AoSMC	blood vessel:	n/a
17	chr12:51612794-51612844	HCM	heart:	n/a
18	chr12:51612794-51612844	HPAEpiC	pulmonary alveolar:	n/a
19	chr12:51612794-51612844	Hepatocyte	liver:	n/a
20	chr12:51612794-51612844	Hela-S3	cervix:	n/a
21	chr12:51612794-51612844	GM19239	blood:	n/a
22	chr12:51612794-51612844	CMK	blood:	n/a
23	chr12:51612794-51612844	ovcar-3	ovarian:	n/a
24	chr12:51612794-51612844	GM12878	blood:	n/a
25	chr12:51612794-51612844	MCF-7	breast:	n/a
26	chr12:51612794-51612844	GM12891	blood:	n/a
27	chr12:51612794-51612844	IMR90	lung:	fetal
28	chr12:51612794-51612844	PFSK-1	brain:	n/a
29	chr12:51612794-51612844	HL-60	blood:	n/a
30	chr12:51612794-51612844	SKMC	muscle:	n/a
31	chr12:51612794-51612844	HRCEpiC	kidney:	n/a
32	chr12:51612794-51612844	HNPCEpiC	eye:	n/a
33	chr12:51612794-51612844	K562	blood:	n/a
34	chr12:51612794-51612844	LNCaP	prostate:	n/a
35	chr12:51612794-51612844	SK-N-SH_RA	brain:	n/a
36	chr12:51612794-51612844	HUVEC	blood vessel:	n/a
37	chr12:51612794-51612844	GM06990	blood:	n/a
38	chr12:51612794-51612844	Caco-2	colon:	n/a
39	chr12:51612794-51612844	HCT-116	colon:	n/a
40	chr12:51612794-51612844	AG04449	skin:	fetal
41	chr12:51612794-51612844	HRPEpiC	eye:	n/a
42	chr12:51612794-51612844	NT2-D1	testis:	n/a
43	chr12:51612794-51612844	HCF	heart:	n/a
44	chr12:51612794-51612844	HAEpiC	amniotic membrane:	n/a
45	chr12:51612794-51612844	HMEC	breast:	n/a
46	chr12:51612794-51612844	RPTEC	kidney:	n/a
47	chr12:51612794-51612844	PrEC	prostate:	n/a
48	chr12:51612794-51612844	HEK293	kidney:	embryo
49	chr12:51612794-51612844	AG09309	skin:	n/a
50	chr12:51612794-51612844	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:51157569..51160516-chr12:51611731..51613525,2	K562	blood:
2	chr12:51611953..51614531-chr12:51619084..51621846,2	MCF-7	breast:
3	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
4	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:
5	chr12:51470450..51472551-chr12:51611525..51613316,2	K562	blood:
6	chr12:51612487..51613125-chr8:117886493..117887056,2	Hela-S3	cervix:
7	chr12:51611630..51613404-chr12:51614974..51616606,2	K562	blood:
8	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
9	chr1:17231308..17231913-chr12:51612141..51612873,2	Hela-S3	cervix:
10	chr12:51565491..51567919-chr12:51611128..51615638,5	K562	blood:
11	chr12:51157569..51159359-chr12:51611731..51613454,2	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	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:
18	chr12:51418648..51420255-chr12:51610985..51612931,2	K562	blood:
19	chr12:51599853..51602841-chr12:51610727..51612927,3	K562	blood:
20	chr12:51440554..51443122-chr12:51610984..51612842,2	K562	blood:
21	chr12:51612109..51612903-chr12:51632289..51632985,2	K562	blood:
22	chr12:51157488..51160464-chr12:51611698..51613297,2	MCF-7	breast:
23	chr12:51595711..51598749-chr12:51608220..51613018,6	K562	blood:
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
POU6F1	CpG island
ENSG00000123268	Chromatin interaction
ENSG00000264875	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000164754	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000269339	Chromatin interaction
ENSG00000183283	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	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	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
3	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51610400-51613000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:51610600-51613000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:51611600-51613000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:51612000-51613000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:51612000-51613000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:51612000-51613000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:51612000-51613000	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr12:51612000-51613200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:51612000-51613200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:51612000-51613400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:51612000-51613400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:51612200-51613000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr12:51612200-51613000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:51612200-51613000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr12:51612200-51613000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr12:51612200-51613000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr12:51612200-51613000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:51612200-51613000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr12:51612200-51613000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr12:51612200-51613000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:51612200-51613000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr12:51612200-51613000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr12:51612200-51613000	Flanking Active TSS	Colonic Mucosa	Colon
24	chr12:51612200-51613000	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr12:51612200-51613000	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr12:51612200-51613000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:51612200-51613000	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr12:51612200-51613000	Flanking Active TSS	A549	lung
29	chr12:51612200-51613000	Flanking Active TSS	HUVEC	blood vessel
30	chr12:51612200-51613000	Flanking Active TSS	NHEK	skin
31	chr12:51612200-51613200	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr12:51612200-51613200	Flanking Active TSS	Fetal Lung	lung
33	chr12:51612200-51613200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr12:51612200-51613400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr12:51612200-51613400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr12:51612200-51613400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr12:51612200-51613400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr12:51612200-51613400	Flanking Active TSS	Hela-S3	cervix
39	chr12:51612200-51613600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr12:51612200-51613600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr12:51612200-51613800	Flanking Active TSS	K562	blood
42	chr12:51612400-51613000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:51612400-51613000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr12:51612400-51613000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr12:51612400-51613000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr12:51612400-51613000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr12:51612400-51613000	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr12:51612400-51613000	Flanking Active TSS	GM12878-XiMat	blood
49	chr12:51612400-51613400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr12:51612400-51613400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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