Variant report

Variant	rs61933191
Chromosome Location	chr12:64845867-64845868
allele	A/G
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	MAFK	chr12:64845548-64846186	HepG2	liver:	n/a	chr12:64846075-64846085 chr12:64846075-64846084 chr12:64846070-64846085
3	USF1	chr12:64845384-64846183	K562	blood:	n/a	chr12:64845844-64845860 chr12:64845978-64845994
4	CBX3	chr12:64845452-64846322	K562	blood:	n/a	n/a
5	REST	chr12:64845437-64846140	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr12:64844809-64846944	PANC-1	pancreas:	n/a	n/a
7	MAX	chr12:64845311-64846123	H1-hESC	embryonic stem cell:	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
8	SIN3AK20	chr12:64845376-64846368	K562	blood:	n/a	n/a
9	E2F6	chr12:64845423-64846128	H1-hESC	embryonic stem cell:	n/a	chr12:64846095-64846104 chr12:64846047-64846059 chr12:64846000-64846009 chr12:64845832-64845841 chr12:64846089-64846098
10	POLR2A	chr12:64845430-64846042	SK-N-SH	brain:	n/a	n/a
11	MYC	chr12:64845380-64846060	H1-hESC	embryonic stem cell:	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
12	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
13	TAF1	chr12:64845631-64846302	HepG2	liver:	n/a	n/a
14	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
15	CHD2	chr12:64845460-64846339	Hela-S3	cervix:	n/a	chr12:64846003-64846013
16	TBL1XR1	chr12:64845600-64846452	K562	blood:	n/a	n/a
17	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
18	POLR2A	chr12:64845375-64846449	MCF-7	breast:	n/a	n/a
19	TAF1	chr12:64845710-64846046	PFSK-1	brain:	n/a	n/a
20	TCF3	chr12:64845665-64846343	GM12878	blood:	n/a	n/a
21	RCOR1	chr12:64845542-64846611	HepG2	liver:	n/a	n/a
22	USF1	chr12:64845482-64846235	GM12878	blood:	n/a	chr12:64845844-64845860 chr12:64845978-64845994
23	E2F6	chr12:64845606-64846045	A549	lung:	n/a	chr12:64846000-64846009 chr12:64845832-64845841
24	USF2	chr12:64844952-64846070	Hela-S3	cervix:	n/a	chr12:64845844-64845860 chr12:64845865-64845876 chr12:64845978-64845994
25	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
26	POLR2A	chr12:64844713-64847395	PBDE	blood:	n/a	n/a
27	POLR2A	chr12:64845358-64846388	K562	blood:	n/a	n/a
28	POLR2A	chr12:64845396-64846181	GM12892	blood:	n/a	n/a
29	EP300	chr12:64845670-64846114	T-47D	breast:	n/a	chr12:64845843-64845859 chr12:64846000-64846016 chr12:64845898-64845905 chr12:64846027-64846043
30	FOXA1	chr12:64845454-64845960	T-47D	breast:	n/a	n/a
31	POLR2A	chr12:64845547-64846182	GM12878	blood:	n/a	n/a
32	NRF1	chr12:64845645-64846028	K562	blood:	n/a	chr12:64845828-64845842 chr12:64845831-64845840 chr12:64845831-64845845 chr12:64845844-64845855 chr12:64845830-64845841 chr12:64845831-64845842
33	BATF	chr12:64845840-64846272	GM12878	blood:	n/a	chr12:64846077-64846088
34	GABPA	chr12:64845771-64846095	H1-hESC	embryonic stem cell:	n/a	chr12:64845828-64845842 chr12:64845831-64845840 chr12:64845831-64845845 chr12:64845831-64845842
35	MAX	chr12:64845274-64846222	MCF-7	breast:	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
36	ZBTB7A	chr12:64845814-64846394	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr12:64844538-64847042	K562	blood:	n/a	n/a
38	POLR2A	chr12:64844526-64846950	Hela-S3	cervix:	n/a	n/a
39	TAF1	chr12:64845562-64846145	H1-hESC	embryonic stem cell:	n/a	n/a
40	USF1	chr12:64845399-64846144	A549	lung:	n/a	chr12:64845844-64845860 chr12:64845978-64845994
41	CTCF	chr12:64845768-64846227	K562	blood:	n/a	chr12:64846029-64846042 chr12:64846029-64846042
42	USF1	chr12:64845337-64846167	ECC-1	luminal epithelium:	n/a	chr12:64845844-64845860 chr12:64845978-64845994
43	ZNF384	chr12:64845577-64846258	K562	blood:	n/a	n/a
44	POLR2A	chr12:64845428-64846394	GM18526	blood:	n/a	n/a
45	RELA	chr12:64845466-64846333	GM15510	blood:	n/a	n/a
46	POLR2A	chr12:64844954-64846235	HCT-116	colon:	n/a	n/a
47	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
48	USF2	chr12:64845538-64846040	K562	blood:	n/a	chr12:64845844-64845860 chr12:64845865-64845876 chr12:64845978-64845994
49	MYC	chr12:64845446-64846009	HepG2	liver:	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
50	POU2F2	chr12:64845446-64846407	GM12878	blood:	n/a	chr12:64846087-64846099

No.	Distal block	Cell Line	Cell type
1	chr1:93913672..93914514-chr12:64845363..64846235,2	Hela-S3	cervix:
2	chr12:53835173..53836169-chr12:64845339..64846089,2	Hela-S3	cervix:
3	chr12:64796894..64803590-chr12:64839858..64848176,19	K562	blood:
4	chr12:64845394..64847984-chr12:65173239..65175891,2	MCF-7	breast:
5	chr12:64845589..64846177-chr3:15643223..15643908,2	Hela-S3	cervix:
6	chr12:64845761..64846333-chr5:180618194..180618954,2	Hela-S3	cervix:
7	chr12:64817684..64820353-chr12:64842113..64845910,3	K562	blood:
8	chr12:64845382..64847224-chr12:120729437..120730977,2	MCF-7	breast:
9	chr12:64844835..64848934-chr12:65001187..65005448,7	MCF-7	breast:
10	chr12:64614514..64616589-chr12:64845108..64847445,2	K562	blood:
11	chr12:64801684..64804391-chr12:64845532..64847782,2	MCF-7	breast:
12	chr12:64845658..64846400-chr19:39897421..39898419,2	Hela-S3	cervix:
13	chr12:64794953..64800786-chr12:64842676..64849530,27	K562	blood:
14	chr12:64844696..64847501-chr12:65001513..65004366,3	K562	blood:
15	chr11:18415715..18416570-chr12:64845567..64846239,2	Hela-S3	cervix:
16	chr12:64796556..64799872-chr12:64845124..64847065,5	MCF-7	breast:
17	chr12:64835889..64842524-chr12:64842731..64847480,12	K562	blood:
18	chr12:64845475..64846067-chr16:2204811..2205751,2	Hela-S3	cervix:
19	chr12:64845703..64848434-chr12:64888861..64891415,2	MCF-7	breast:
20	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
ENSG00000250222	Chromatin interaction
ENSG00000131653	Chromatin interaction
ENSG00000205352	Chromatin interaction
ENSG00000197111	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000248473	Chromatin interaction
ENSG00000131373	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000184575	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000111490	Chromatin interaction
ENSG00000255566	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000256670	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000153179	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000243024	Chromatin interaction
ENSG00000183735	Chromatin interaction
ENSG00000174206	Chromatin interaction
ENSG00000169814	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	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11837890	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075094	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292023	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55654954	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55690537	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55999447	0.89[AMR][1000 genomes]
rs56198126	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326550	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58143737	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60358746	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60520114	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61396007	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931543	0.89[AMR][1000 genomes]
rs61931544	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931545	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61931549	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931550	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931552	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931555	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931557	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931558	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933192	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933195	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933196	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933198	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933199	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933200	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933201	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933202	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933204	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933205	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61933207	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933209	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933211	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933212	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303577	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120375	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120383	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73122367	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488918	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[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	chr12:64844400-64846000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:64844600-64847000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr12:64844600-64847400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:64844600-64847400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:64844800-64847200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:64844800-64847200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr12:64844800-64847400	Active TSS	A549	lung
9	chr12:64844800-64847600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:64844800-64847800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:64844800-64847800	Active TSS	NHLF	lung
12	chr12:64844800-64848000	Active TSS	K562	blood
13	chr12:64845000-64846800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:64845000-64846800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:64845000-64846800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:64845000-64846800	Active TSS	Fetal Brain Male	brain
17	chr12:64845000-64846800	Active TSS	Fetal Intestine Large	intestine
18	chr12:64845000-64847000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr12:64845000-64847000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:64845000-64847000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:64845000-64847000	Active TSS	Colonic Mucosa	Colon
22	chr12:64845000-64847000	Active TSS	Ovary	ovary
23	chr12:64845000-64847200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:64845000-64847400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:64845000-64847400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:64845000-64847600	Active TSS	H1 Cell Line	embryonic stem cell
27	chr12:64845000-64847600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr12:64845000-64847600	Active TSS	Aorta	Aorta
29	chr12:64845200-64846000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:64845200-64846000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:64845200-64846200	Active TSS	Primary T cells from cord blood	blood
32	chr12:64845200-64846400	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr12:64845200-64846600	Active TSS	Fetal Kidney	kidney
34	chr12:64845200-64846600	Active TSS	Rectal Smooth Muscle	rectum
35	chr12:64845200-64846800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:64845200-64846800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:64845200-64846800	Active TSS	Brain Anterior Caudate	brain
38	chr12:64845200-64846800	Active TSS	Brain Substantia Nigra	brain
39	chr12:64845200-64846800	Active TSS	Duodenum Mucosa	Duodenum
40	chr12:64845200-64846800	Active TSS	Esophagus	oesophagus
41	chr12:64845200-64846800	Active TSS	Fetal Brain Female	brain
42	chr12:64845200-64846800	Active TSS	Fetal Heart	heart
43	chr12:64845200-64846800	Active TSS	Fetal Intestine Small	intestine
44	chr12:64845200-64846800	Active TSS	Fetal Lung	lung
45	chr12:64845200-64846800	Active TSS	Fetal Stomach	stomach
46	chr12:64845200-64846800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr12:64845200-64846800	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr12:64845200-64847000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:64845200-64847000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:64845200-64847000	Active TSS	Brain Angular Gyrus	brain

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