Variant report

Variant	rs7398443
Chromosome Location	chr12:51612086-51612087
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:270)
CpG islands
(count:61)
Chromatin interactive
region (count:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:270 , 50 per page) page: 1 2 3 4 5 6

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	TAF1	chr12:51611946-51612267	GM12892	blood:	n/a	n/a
3	TAF1	chr12:51611948-51612204	GM12891	blood:	n/a	n/a
4	RUNX3	chr12:51611638-51612578	GM12878	blood:	n/a	n/a
5	MYC	chr12:51611716-51612330	MCF10A-Er-Src	breast:	n/a	chr12:51611749-51611759 chr12:51612123-51612133
6	POLR2A	chr12:51611723-51612374	GM12891	blood:	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	TCF3	chr12:51611793-51612095	GM12878	blood:	n/a	n/a
10	CTCF	chr12:51611712-51612512	K562	blood:	n/a	n/a
11	JUND	chr12:51611700-51612231	H1-hESC	embryonic stem cell:	n/a	chr12:51611716-51611725
12	YY1	chr12:51611763-51612254	HepG2	liver:	n/a	chr12:51611953-51611964
13	POLR2A	chr12:51610900-51612491	GM19193	blood:	n/a	n/a
14	YY1	chr12:51611714-51612294	H1-hESC	embryonic stem cell:	n/a	chr12:51611953-51611964
15	POLR2A	chr12:51611595-51612513	HUVEC	blood vessel:	n/a	n/a
16	E2F6	chr12:51612018-51612378	K562	blood:	n/a	chr12:51612305-51612312
17	YY1	chr12:51611762-51612228	A549	lung:	n/a	chr12:51611953-51611964
18	WRNIP1	chr12:51612024-51612873	GM12878	blood:	n/a	n/a
19	CTCF	chr12:51612020-51612170	HCPEpiC	choroid plexus:	n/a	n/a
20	BCL3	chr12:51611952-51612585	A549	lung:	n/a	chr12:51612063-51612072
21	POU2F2	chr12:51611619-51612297	GM12891	blood:	n/a	chr12:51611713-51611725 chr12:51611842-51611851
22	POLR2A	chr12:51611704-51612859	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr12:51610958-51612941	Hela-S3	cervix:	n/a	n/a
24	CHD1	chr12:51610854-51612986	IMR90	lung:	n/a	chr12:51611399-51611409
25	POLR2A	chr12:51611534-51612224	U87	brain:	n/a	n/a
26	CHD2	chr12:51611582-51612488	Hela-S3	cervix:	n/a	n/a
27	YY1	chr12:51611682-51612265	GM12878	blood:	n/a	chr12:51611953-51611964 chr12:51611709-51611723
28	ZBTB7A	chr12:51611362-51612497	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr12:51611692-51612867	Hela-S3	cervix:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
30	SMC3	chr12:51611712-51612411	Hela-S3	cervix:	n/a	n/a
31	TAF1	chr12:51611736-51612299	A549	lung:	n/a	n/a
32	TEAD4	chr12:51611703-51612480	K562	blood:	n/a	n/a
33	CHD2	chr12:51611737-51612232	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZNF143	chr12:51611706-51612262	GM12878	blood:	n/a	n/a
35	ZBTB7A	chr12:51610853-51612452	K562	blood:	n/a	n/a
36	CTCF	chr12:51611713-51612209	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:51611804-51612189	Gliobla	brain:	n/a	n/a
38	REST	chr12:51611753-51612105	SK-N-SH	brain:	n/a	n/a
39	MAX	chr12:51611642-51613038	H1-hESC	embryonic stem cell:	n/a	chr12:51611749-51611759 chr12:51612123-51612133 chr12:51612673-51612683
40	ZNF384	chr12:51611575-51612229	K562	blood:	n/a	n/a
41	POLR2A	chr12:51610994-51612511	GM15510	blood:	n/a	n/a
42	POLR2A	chr12:51611767-51612097	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr12:51611825-51612174	A549	lung:	n/a	n/a
44	MAX	chr12:51611704-51612583	GM12878	blood:	n/a	chr12:51611749-51611759 chr12:51612123-51612133
45	MAX	chr12:51611706-51612451	Hela-S3	cervix:	n/a	chr12:51611749-51611759 chr12:51612123-51612133
46	POLR2A	chr12:51611382-51612436	GM12878	blood:	n/a	n/a
47	GTF2F1	chr12:51611774-51612194	H1-hESC	embryonic stem cell:	n/a	n/a
48	GTF2B	chr12:51611813-51612393	K562	blood:	n/a	n/a
49	MTA3	chr12:51612018-51612577	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:51611426-51612988	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:51612065-51612115	AG10803	skin:	n/a
2	chr12:51612065-51612115	Hepatocyte	liver:	n/a
3	chr12:51612065-51612115	SK-N-SH	brain:	n/a
4	chr12:51612065-51612115	SAEC	small airway:	n/a
5	chr12:51612065-51612115	CMK	blood:	n/a
6	chr12:51612065-51612115	BE2_C	brain:	n/a
7	chr12:51612065-51612115	HEEpiC	esophagus:	n/a
8	chr12:51612065-51612115	NH-A	brain:	n/a
9	chr12:51612065-51612115	GM19239	blood:	n/a
10	chr12:51612065-51612115	SKMC	muscle:	n/a
11	chr12:51612065-51612115	HCT-116	colon:	n/a
12	chr12:51612065-51612115	Caco-2	colon:	n/a
13	chr12:51612065-51612115	HIPEpiC	eye:	n/a
14	chr12:51612065-51612115	HEK293	kidney:	embryo
15	chr12:51612065-51612115	GM12878	blood:	n/a
16	chr12:51612065-51612115	ECC-1	luminal epithelium:	n/a
17	chr12:51612065-51612115	HMEC	breast:	n/a
18	chr12:51612065-51612115	T-47D	breast:	n/a
19	chr12:51612065-51612115	IMR90	lung:	fetal
20	chr12:51612065-51612115	HRE	kidney:	n/a
21	chr12:51612065-51612115	AoSMC	blood vessel:	n/a
22	chr12:51612065-51612115	U87	brain:	n/a
23	chr12:51612065-51612115	HAEpiC	amniotic membrane:	n/a
24	chr12:51612065-51612115	Jurkat	blood:	n/a
25	chr12:51612065-51612115	PFSK-1	brain:	n/a
26	chr12:51612065-51612115	AG04450	lung:	fetal
27	chr12:51612065-51612115	PANC-1	pancreas:	n/a
28	chr12:51612065-51612115	H1-hESC	embryonic stem cell:	embryo
29	chr12:51612065-51612115	HNPCEpiC	eye:	n/a
30	chr12:51612065-51612115	AG09309	skin:	n/a
31	chr12:51612065-51612115	GM12891	blood:	n/a
32	chr12:51612065-51612115	NB4	blood:	n/a
33	chr12:51612065-51612115	LNCaP	prostate:	n/a
34	chr12:51612065-51612115	HL-60	blood:	n/a
35	chr12:51612065-51612115	HCM	heart:	n/a
36	chr12:51612065-51612115	NHBE	bronchial:	n/a
37	chr12:51612065-51612115	MCF-7	breast:	n/a
38	chr12:51612065-51612115	ProgFib	skin:	n/a
39	chr12:51612065-51612115	BJ	skin:	n/a
40	chr12:51612065-51612115	K562	blood:	n/a
41	chr12:51612065-51612115	A549	lung:	n/a
42	chr12:51612065-51612115	HCF	heart:	n/a
43	chr12:51612065-51612115	PrEC	prostate:	n/a
44	chr12:51612065-51612115	Hela-S3	cervix:	n/a
45	chr12:51612065-51612115	SK-N-SH_RA	brain:	n/a
46	chr12:51612065-51612115	GM12892	blood:	n/a
47	chr12:51612065-51612115	RPTEC	kidney:	n/a
48	chr12:51612065-51612115	SK-N-MC	brain:	n/a
49	chr12:51612065-51612115	HRPEpiC	eye:	n/a
50	chr12:51612065-51612115	HUVEC	blood vessel:	n/a

(count:30 , 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	chr12:51157569..51160516-chr12:51611731..51613525,2	K562	blood:
4	chr12:51611211..51612521-chr12:108954486..108955762,3	Hela-S3	cervix:
5	chr12:51611611..51612296-chr5:137805483..137805987,2	HCT-116	colon:
6	chr12:51611953..51614531-chr12:51619084..51621846,2	MCF-7	breast:
7	chr12:51441021..51443304-chr12:51610017..51612719,2	MCF-7	breast:
8	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
9	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:
10	chr12:51470450..51472551-chr12:51611525..51613316,2	K562	blood:
11	chr12:51611630..51613404-chr12:51614974..51616606,2	K562	blood:
12	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
13	chr12:51565491..51567919-chr12:51611128..51615638,5	K562	blood:
14	chr12:51157569..51159359-chr12:51611731..51613454,2	K562	blood:
15	chr12:51610630..51613333-chr12:51630974..51632942,2	MCF-7	breast:
16	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
17	chr12:51474480..51479024-chr12:51609420..51613050,8	MCF-7	breast:
18	chr12:51611183..51613531-chr12:51631479..51634171,5	MCF-7	breast:
19	chr12:51611105..51614311-chr12:51630494..51636750,15	K562	blood:
20	chr12:51611474..51612337-chr19:19626938..19627537,2	Hela-S3	cervix:
21	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:
22	chr12:51418648..51420255-chr12:51610985..51612931,2	K562	blood:
23	chr12:51599853..51602841-chr12:51610727..51612927,3	K562	blood:
24	chr12:51440554..51443122-chr12:51610984..51612842,2	K562	blood:
25	chr12:51157488..51160464-chr12:51611698..51613297,2	MCF-7	breast:
26	chr12:51595711..51598749-chr12:51608220..51613018,6	K562	blood:
27	chr12:51610103..51612152-chr3:63848068..63850796,2	MCF-7	breast:
28	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
29	chr12:51600105..51601840-chr12:51611427..51613350,2	K562	blood:
30	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
ENSG00000050426	Chromatin interaction
ENSG00000269339	Chromatin interaction
ENSG00000075856	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000163634	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000186010	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000258674	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10431487	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10735832	0.88[ASN][1000 genomes]
rs10783422	0.85[EUR][1000 genomes]
rs10783423	0.85[EUR][1000 genomes]
rs10783425	0.85[EUR][1000 genomes]
rs10876154	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876155	0.85[EUR][1000 genomes]
rs11169761	0.87[ASN][1000 genomes]
rs1130598	0.85[EUR][1000 genomes]
rs3888223	0.84[EUR][1000 genomes]
rs61932928	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6421171	0.85[EUR][1000 genomes]
rs6580809	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580816	0.82[EUR][1000 genomes]
rs6580817	0.85[EUR][1000 genomes]
rs7305016	0.84[EUR][1000 genomes]
rs7307217	0.85[EUR][1000 genomes]
rs7314235	0.85[EUR][1000 genomes]
rs7959901	0.85[EUR][1000 genomes]
rs7975737	0.87[ASN][1000 genomes]
rs7976292	0.88[ASN][1000 genomes]

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	chr12:51610200-51612200	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	chr12:51610600-51612200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:51610600-51612200	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr12:51610600-51612200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr12:51610600-51612200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr12:51610600-51612200	Active TSS	Colonic Mucosa	Colon
22	chr12:51610600-51612200	Active TSS	Fetal Intestine Small	intestine
23	chr12:51610600-51612200	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr12:51610600-51612200	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr12:51610600-51612200	Active TSS	Hela-S3	cervix
26	chr12:51610600-51612200	Active TSS	HepG2	liver
27	chr12:51610600-51612400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:51610600-51612400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:51610600-51612400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:51610600-51612400	Active TSS	Brain Angular Gyrus	brain
31	chr12:51610600-51612400	Active TSS	Brain Anterior Caudate	brain
32	chr12:51610600-51612400	Active TSS	Brain Hippocampus Middle	brain
33	chr12:51610600-51612400	Active TSS	Duodenum Mucosa	Duodenum
34	chr12:51610600-51612400	Active TSS	Left Ventricle	heart
35	chr12:51610600-51612400	Active TSS	Pancreas	Pancrea
36	chr12:51610600-51612400	Active TSS	Rectal Smooth Muscle	rectum
37	chr12:51610600-51612400	Active TSS	Small Intestine	intestine
38	chr12:51610600-51612400	Active TSS	NHDF-Ad	bronchial
39	chr12:51610600-51612600	Active TSS	Lung	lung
40	chr12:51610600-51612800	Active TSS	Aorta	Aorta
41	chr12:51610600-51612800	Active TSS	Colon Smooth Muscle	Colon
42	chr12:51610600-51613000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr12:51610800-51612200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:51610800-51612200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:51610800-51612200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:51610800-51612200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr12:51610800-51612200	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr12:51610800-51612200	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr12:51610800-51612200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:51610800-51612200	Active TSS	Adipose Nuclei	Adipose

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