Variant report

Variant	rs61933192
Chromosome Location	chr12:64846225-64846226
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:64844879-64847455	K562	blood:	n/a	chr12:64845843-64845859 chr12:64846924-64846933 chr12:64846000-64846016 chr12:64845898-64845905 chr12:64846027-64846043 chr12:64846240-64846256
2	CBX3	chr12:64845452-64846322	K562	blood:	n/a	n/a
3	POLR2A	chr12:64844809-64846944	PANC-1	pancreas:	n/a	n/a
4	CTCF	chr12:64846120-64846270	HVMF	connective:	n/a	n/a
5	SIN3AK20	chr12:64845376-64846368	K562	blood:	n/a	n/a
6	MAFK	chr12:64845499-64847116	Hela-S3	cervix:	n/a	chr12:64846923-64846933 chr12:64846075-64846085 chr12:64846075-64846084 chr12:64846923-64846932 chr12:64846918-64846933 chr12:64846070-64846085
7	TAF1	chr12:64845631-64846302	HepG2	liver:	n/a	n/a
8	MAFK	chr12:64845557-64847104	IMR90	lung:	n/a	chr12:64846923-64846933 chr12:64846075-64846085 chr12:64846075-64846084 chr12:64846923-64846932 chr12:64846918-64846933 chr12:64846070-64846085
9	CHD2	chr12:64845460-64846339	Hela-S3	cervix:	n/a	chr12:64846003-64846013
10	TBL1XR1	chr12:64845600-64846452	K562	blood:	n/a	n/a
11	ETS1	chr12:64845412-64846368	K562	blood:	n/a	chr12:64846090-64846101 chr12:64845897-64845906 chr12:64845897-64845906 chr12:64845893-64845909 chr12:64845897-64845906 chr12:64845641-64845654 chr12:64846087-64846098 chr12:64846046-64846059 chr12:64845897-64845906 chr12:64845639-64845648 chr12:64845895-64845904 chr12:64845898-64845908 chr12:64845897-64845906
12	POLR2A	chr12:64845375-64846449	MCF-7	breast:	n/a	n/a
13	MAFK	chr12:64845870-64846298	H1-hESC	embryonic stem cell:	n/a	chr12:64846075-64846085 chr12:64846075-64846084 chr12:64846070-64846085
14	TCF3	chr12:64845665-64846343	GM12878	blood:	n/a	n/a
15	RCOR1	chr12:64845542-64846611	HepG2	liver:	n/a	n/a
16	USF1	chr12:64845482-64846235	GM12878	blood:	n/a	chr12:64845844-64845860 chr12:64845978-64845994
17	FOS	chr12:64845731-64847129	MCF10A-Er-Src	breast:	n/a	chr12:64846923-64846935 chr12:64846925-64846933 chr12:64846924-64846934 chr12:64846926-64846933 chr12:64846925-64846933
18	POLR2A	chr12:64844713-64847395	PBDE	blood:	n/a	n/a
19	POLR2A	chr12:64845358-64846388	K562	blood:	n/a	n/a
20	BATF	chr12:64845840-64846272	GM12878	blood:	n/a	chr12:64846077-64846088
21	ZBTB7A	chr12:64845814-64846394	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr12:64844538-64847042	K562	blood:	n/a	n/a
23	POLR2A	chr12:64844526-64846950	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr12:64845768-64846227	K562	blood:	n/a	chr12:64846029-64846042 chr12:64846029-64846042
25	ZNF384	chr12:64845577-64846258	K562	blood:	n/a	n/a
26	POLR2A	chr12:64845428-64846394	GM18526	blood:	n/a	n/a
27	SP1	chr12:64846119-64846925	A549	lung:	n/a	chr12:64846333-64846347
28	RELA	chr12:64845466-64846333	GM15510	blood:	n/a	n/a
29	POLR2A	chr12:64844954-64846235	HCT-116	colon:	n/a	n/a
30	HA-E2F1	chr12:64845656-64846255	Hela-S3	cervix:	n/a	chr12:64846095-64846104 chr12:64846047-64846059 chr12:64846000-64846009 chr12:64845832-64845841 chr12:64846089-64846098
31	POU2F2	chr12:64845446-64846407	GM12878	blood:	n/a	chr12:64846087-64846099
32	HA-E2F1	chr12:64845362-64846360	MCF-7	breast:	n/a	chr12:64846095-64846104 chr12:64846047-64846059 chr12:64846000-64846009 chr12:64845832-64845841 chr12:64846089-64846098
33	EP300	chr12:64845617-64846422	ECC-1	luminal epithelium:	n/a	chr12:64845843-64845859 chr12:64846000-64846016 chr12:64845898-64845905 chr12:64846027-64846043 chr12:64846240-64846256
34	EGR1	chr12:64845845-64846391	ECC-1	luminal epithelium:	n/a	chr12:64846083-64846098 chr12:64846090-64846103 chr12:64846087-64846096 chr12:64846089-64846099 chr12:64846084-64846097 chr12:64846048-64846062 chr12:64845897-64845906 chr12:64846086-64846096 chr12:64846085-64846099 chr12:64846093-64846102 chr12:64846090-64846104 chr12:64846087-64846097 chr12:64846084-64846097 chr12:64846089-64846104 chr12:64846084-64846097 chr12:64846084-64846098 chr12:64846090-64846103 chr12:64845920-64845930 chr12:64846090-64846103 chr12:64846084-64846097 chr12:64846093-64846103 chr12:64846090-64846103
35	MAX	chr12:64845374-64846526	SK-N-SH	brain:	n/a	chr12:64845921-64845931 chr12:64845866-64845877 chr12:64845867-64845876 chr12:64845543-64845553 chr12:64845554-64845570 chr12:64845865-64845878 chr12:64845867-64845876 chr12:64845541-64845550 chr12:64846338-64846348
36	MAX	chr12:64845129-64846318	GM12878	blood:	n/a	chr12:64845921-64845931 chr12:64845866-64845877 chr12:64845867-64845876 chr12:64845543-64845553 chr12:64845554-64845570 chr12:64845865-64845878 chr12:64845867-64845876 chr12:64845541-64845550
37	FOSL1	chr12:64845721-64846248	K562	blood:	n/a	chr12:64846075-64846086
38	MAX	chr12:64844884-64847013	ECC-1	luminal epithelium:	n/a	chr12:64845921-64845931 chr12:64845866-64845877 chr12:64845867-64845876 chr12:64845543-64845553 chr12:64845554-64845570 chr12:64845865-64845878 chr12:64846924-64846933 chr12:64845867-64845876 chr12:64845541-64845550 chr12:64846338-64846348
39	STAT5A	chr12:64845339-64846836	GM12878	blood:	n/a	n/a
40	FOSL2	chr12:64845359-64847009	MCF-7	breast:	n/a	chr12:64846923-64846935 chr12:64845536-64845545 chr12:64846925-64846933 chr12:64846924-64846934 chr12:64846926-64846933 chr12:64846925-64846933
41	E2F4	chr12:64845418-64846324	K562	blood:	n/a	chr12:64846095-64846104 chr12:64846047-64846059 chr12:64846000-64846009 chr12:64845832-64845841 chr12:64846089-64846098
42	ELF1	chr12:64845431-64846482	GM12878	blood:	n/a	chr12:64846087-64846099 chr12:64845896-64845905 chr12:64845893-64845906 chr12:64846093-64846105 chr12:64845895-64845906
43	MYC	chr12:64845371-64847066	K562	blood:	n/a	chr12:64845921-64845931 chr12:64845866-64845877 chr12:64845867-64845876 chr12:64845543-64845553 chr12:64845554-64845570 chr12:64845865-64845878 chr12:64846924-64846933 chr12:64845867-64845876 chr12:64845541-64845550 chr12:64846338-64846348
44	EGR1	chr12:64845585-64846725	HCT-116	colon:	n/a	chr12:64846083-64846098 chr12:64846090-64846103 chr12:64846087-64846096 chr12:64846089-64846099 chr12:64846084-64846097 chr12:64846048-64846062 chr12:64845897-64845906 chr12:64846086-64846096 chr12:64846085-64846099 chr12:64846093-64846102 chr12:64846090-64846104 chr12:64846087-64846097 chr12:64846084-64846097 chr12:64846089-64846104 chr12:64846084-64846097 chr12:64846084-64846098 chr12:64845832-64845841 chr12:64846090-64846103 chr12:64845920-64845930 chr12:64846090-64846103 chr12:64846084-64846097 chr12:64846093-64846103 chr12:64846090-64846103
45	CTCF	chr12:64846140-64846290	HVMF	connective:	n/a	n/a
46	TAF1	chr12:64845406-64846446	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:64845399-64846453	GM12892	blood:	n/a	n/a
48	POLR2A	chr12:64844974-64846366	GM19099	blood:	n/a	n/a
49	PML	chr12:64845002-64847133	K562	blood:	n/a	n/a
50	POLR2A	chr12:64845587-64846242	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:64846210-64846260	PrEC	prostate:	n/a
2	chr12:64846210-64846260	HNPCEpiC	eye:	n/a
3	chr12:64846210-64846260	SK-N-SH	brain:	n/a
4	chr12:64846210-64846260	NT2-D1	testis:	n/a
5	chr12:64846210-64846260	ProgFib	skin:	n/a
6	chr12:64846210-64846260	HCT-116	colon:	n/a
7	chr12:64846210-64846260	RPTEC	kidney:	n/a
8	chr12:64846210-64846260	AoSMC	blood vessel:	n/a
9	chr12:64846210-64846260	GM12891	blood:	n/a
10	chr12:64846210-64846260	PFSK-1	brain:	n/a
11	chr12:64846210-64846260	MCF-7	breast:	n/a
12	chr12:64846210-64846260	GM19239	blood:	n/a
13	chr12:64846210-64846260	NHDF-neo	bronchial:	n/a
14	chr12:64846210-64846260	SK-N-MC	brain:	n/a
15	chr12:64846210-64846260	HUVEC	blood vessel:	n/a
16	chr12:64846210-64846260	ECC-1	luminal epithelium:	n/a
17	chr12:64846210-64846260	HPAEpiC	pulmonary alveolar:	n/a
18	chr12:64846210-64846260	CMK	blood:	n/a
19	chr12:64846210-64846260	AG09309	skin:	n/a
20	chr12:64846210-64846260	IMR90	lung:	fetal
21	chr12:64846210-64846260	HL-60	blood:	n/a
22	chr12:64846210-64846260	HEK293	kidney:	embryo
23	chr12:64846210-64846260	SK-N-SH_RA	brain:	n/a
24	chr12:64846210-64846260	Hepatocyte	liver:	n/a
25	chr12:64846210-64846260	BE2_C	brain:	n/a
26	chr12:64846210-64846260	HRPEpiC	eye:	n/a
27	chr12:64846210-64846260	HCF	heart:	n/a
28	chr12:64846210-64846260	AG04450	lung:	fetal
29	chr12:64846210-64846260	K562	blood:	n/a
30	chr12:64846210-64846260	HepG2	liver:	n/a
31	chr12:64846210-64846260	T-47D	breast:	n/a
32	chr12:64846210-64846260	NHBE	bronchial:	n/a
33	chr12:64846210-64846260	BJ	skin:	n/a
34	chr12:64846210-64846260	HEEpiC	esophagus:	n/a
35	chr12:64846210-64846260	NH-A	brain:	n/a
36	chr12:64846210-64846260	HMEC	breast:	n/a
37	chr12:64846210-64846260	HCM	heart:	n/a
38	chr12:64846210-64846260	Caco-2	colon:	n/a
39	chr12:64846210-64846260	LNCaP	prostate:	n/a
40	chr12:64846210-64846260	H1-hESC	embryonic stem cell:	embryo
41	chr12:64846210-64846260	GM12878	blood:	n/a
42	chr12:64846210-64846260	GM12892	blood:	n/a
43	chr12:64846210-64846260	AG09319	gingival:	n/a
44	chr12:64846210-64846260	PANC-1	pancreas:	n/a
45	chr12:64846210-64846260	Jurkat	blood:	n/a
46	chr12:64846210-64846260	HCPEpiC	choroid plexus:	n/a
47	chr12:64846210-64846260	SAEC	small airway:	n/a
48	chr12:64846210-64846260	MCF10A-Er-Src	breast:	n/a
49	chr12:64846210-64846260	HRE	kidney:	n/a
50	chr12:64846210-64846260	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:93913672..93914514-chr12:64845363..64846235,2	Hela-S3	cervix:
2	chr12:64796894..64803590-chr12:64839858..64848176,19	K562	blood:
3	chr12:64845394..64847984-chr12:65173239..65175891,2	MCF-7	breast:
4	chr12:64845761..64846333-chr5:180618194..180618954,2	Hela-S3	cervix:
5	chr12:64845382..64847224-chr12:120729437..120730977,2	MCF-7	breast:
6	chr12:64844835..64848934-chr12:65001187..65005448,7	MCF-7	breast:
7	chr12:64614514..64616589-chr12:64845108..64847445,2	K562	blood:
8	chr12:64801684..64804391-chr12:64845532..64847782,2	MCF-7	breast:
9	chr12:64845658..64846400-chr19:39897421..39898419,2	Hela-S3	cervix:
10	chr12:64794953..64800786-chr12:64842676..64849530,27	K562	blood:
11	chr12:64844696..64847501-chr12:65001513..65004366,3	K562	blood:
12	chr11:18415715..18416570-chr12:64845567..64846239,2	Hela-S3	cervix:
13	chr12:64796556..64799872-chr12:64845124..64847065,5	MCF-7	breast:
14	chr12:64835889..64842524-chr12:64842731..64847480,12	K562	blood:
15	chr12:64845703..64848434-chr12:64888861..64891415,2	MCF-7	breast:
16	chr12:64797372..64804702-chr12:64843540..64848189,12	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf56-3	chr12:64845371-64846681	NONHSAT029147

Variant related genes	Relation type
TBK1	TF binding region
TBK1	CpG island
ENSG00000255566	Chromatin interaction
ENSG00000248473	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000250222	Chromatin interaction
ENSG00000111490	Chromatin interaction
ENSG00000174206	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000183735	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000153179	Chromatin interaction
ENSG00000184575	Chromatin interaction
ENSG00000243024	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000256670	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11829120	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11837890	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075094	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292023	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55654954	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55690537	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55999447	0.84[EUR][1000 genomes]
rs56198126	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58143737	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60358746	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60520114	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61396007	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931543	0.84[EUR][1000 genomes]
rs61931544	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931545	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931549	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931550	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931552	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931555	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931557	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931558	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933191	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933195	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933196	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933198	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933199	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933200	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933201	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933202	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933204	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933205	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61933207	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933209	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933211	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933212	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303577	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120375	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120383	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73122367	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488918	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3442048	chr12:64844710-64847258	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr12:64844200-64847600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:64844600-64847000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr12:64844600-64847400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:64844600-64847400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:64844800-64847200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:64844800-64847200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr12:64844800-64847400	Active TSS	A549	lung
8	chr12:64844800-64847600	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:64844800-64847800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:64844800-64847800	Active TSS	NHLF	lung
11	chr12:64844800-64848000	Active TSS	K562	blood
12	chr12:64845000-64846800	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr12:64845000-64846800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:64845000-64846800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:64845000-64846800	Active TSS	Fetal Brain Male	brain
16	chr12:64845000-64846800	Active TSS	Fetal Intestine Large	intestine
17	chr12:64845000-64847000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr12:64845000-64847000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:64845000-64847000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:64845000-64847000	Active TSS	Colonic Mucosa	Colon
21	chr12:64845000-64847000	Active TSS	Ovary	ovary
22	chr12:64845000-64847200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:64845000-64847400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr12:64845000-64847400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:64845000-64847600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr12:64845000-64847600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:64845000-64847600	Active TSS	Aorta	Aorta
28	chr12:64845200-64846400	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr12:64845200-64846600	Active TSS	Fetal Kidney	kidney
30	chr12:64845200-64846600	Active TSS	Rectal Smooth Muscle	rectum
31	chr12:64845200-64846800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:64845200-64846800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:64845200-64846800	Active TSS	Brain Anterior Caudate	brain
34	chr12:64845200-64846800	Active TSS	Brain Substantia Nigra	brain
35	chr12:64845200-64846800	Active TSS	Duodenum Mucosa	Duodenum
36	chr12:64845200-64846800	Active TSS	Esophagus	oesophagus
37	chr12:64845200-64846800	Active TSS	Fetal Brain Female	brain
38	chr12:64845200-64846800	Active TSS	Fetal Heart	heart
39	chr12:64845200-64846800	Active TSS	Fetal Intestine Small	intestine
40	chr12:64845200-64846800	Active TSS	Fetal Lung	lung
41	chr12:64845200-64846800	Active TSS	Fetal Stomach	stomach
42	chr12:64845200-64846800	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr12:64845200-64846800	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr12:64845200-64847000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:64845200-64847000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr12:64845200-64847000	Active TSS	Brain Angular Gyrus	brain
47	chr12:64845200-64847000	Active TSS	Colon Smooth Muscle	Colon
48	chr12:64845200-64847000	Active TSS	Fetal Muscle Trunk	muscle
49	chr12:64845200-64847000	Active TSS	Fetal Muscle Leg	muscle
50	chr12:64845200-64847000	Active TSS	Left Ventricle	heart

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