Variant report

Variant	rs558319918
Chromosome Location	chr12:121422558-121422559
allele	C/T
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	TCF12	chr12:121421472-121423081	A549	lung:	n/a	n/a
2	GATA3	chr12:121422162-121422586	T-47D	breast:	n/a	n/a
3	USF1	chr12:121422171-121422651	A549	lung:	n/a	n/a
4	POLR2A	chr12:121422169-121422886	HepG2	liver:	n/a	n/a
5	FOSL2	chr12:121421836-121422771	A549	lung:	n/a	n/a
6	POLR2A	chr12:121421557-121422770	HepG2	liver:	n/a	n/a
7	FOXA1	chr12:121422192-121422664	HepG2	liver:	n/a	n/a
8	EP300	chr12:121422299-121422569	HepG2	liver:	n/a	chr12:121422537-121422553
9	SP1	chr12:121421449-121422781	A549	lung:	n/a	chr12:121422542-121422551 chr12:121422542-121422552 chr12:121422541-121422553
10	POLR2A	chr12:121422058-121422606	HepG2	liver:	n/a	n/a
11	TCF12	chr12:121422223-121422638	A549	lung:	n/a	n/a
12	EP300	chr12:121422149-121422652	HepG2	liver:	n/a	chr12:121422537-121422553
13	FOXA2	chr12:121422191-121422631	A549	lung:	n/a	n/a
14	GATA3	chr12:121421982-121422855	A549	lung:	n/a	n/a
15	HNF4G	chr12:121422153-121422611	HepG2	liver:	n/a	chr12:121422418-121422432 chr12:121422419-121422431 chr12:121422418-121422426 chr12:121422417-121422432 chr12:121422418-121422432 chr12:121422417-121422432 chr12:121422418-121422431 chr12:121422417-121422425 chr12:121422417-121422432 chr12:121422419-121422431 chr12:121422417-121422432
16	MYBL2	chr12:121421602-121422792	HepG2	liver:	n/a	n/a
17	MAX	chr12:121421541-121422842	A549	lung:	n/a	n/a
18	EP300	chr12:121421534-121422739	A549	lung:	n/a	chr12:121422537-121422553
19	HNF4G	chr12:121422218-121422749	HepG2	liver:	n/a	chr12:121422418-121422432 chr12:121422419-121422431 chr12:121422418-121422426 chr12:121422417-121422432 chr12:121422418-121422432 chr12:121422417-121422432 chr12:121422418-121422431 chr12:121422417-121422425 chr12:121422417-121422432 chr12:121422419-121422431 chr12:121422417-121422432
20	NFIC	chr12:121422211-121422744	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:121421839-121422680	HepG2	liver:	n/a	n/a
22	HDAC2	chr12:121422155-121422756	HepG2	liver:	n/a	chr12:121422418-121422426
23	SP1	chr12:121421465-121422815	A549	lung:	n/a	chr12:121422542-121422551 chr12:121422542-121422552 chr12:121422541-121422553
24	RXRA	chr12:121422138-121422559	HepG2	liver:	n/a	n/a
25	HNF4A	chr12:121422181-121422757	HepG2	liver:	n/a	chr12:121422418-121422432 chr12:121422419-121422431 chr12:121422418-121422426 chr12:121422417-121422432 chr12:121422418-121422432 chr12:121422417-121422432 chr12:121422418-121422431 chr12:121422417-121422425 chr12:121422417-121422432 chr12:121422419-121422431 chr12:121422417-121422432 chr12:121422417-121422432
26	EGR1	chr12:121422385-121422625	K562	blood:	n/a	chr12:121422537-121422550 chr12:121422540-121422549 chr12:121422537-121422550 chr12:121422539-121422549
27	GATA3	chr12:121422106-121422577	MCF-7	breast:	n/a	n/a
28	GATA2	chr12:121422172-121422607	SH-SY5Y	brain:	n/a	n/a
29	MAZ	chr12:121422057-121422701	HepG2	liver:	n/a	n/a
30	REST	chr12:121421536-121422866	A549	lung:	n/a	n/a
31	SMC3	chr12:121422203-121422593	HepG2	liver:	n/a	n/a
32	ZNF143	chr12:121422306-121422724	H1-hESC	embryonic stem cell:	n/a	n/a
33	RCOR1	chr12:121422293-121422801	HepG2	liver:	n/a	n/a
34	RCOR1	chr12:121422423-121422709	K562	blood:	n/a	n/a
35	GATA3	chr12:121422026-121422703	A549	lung:	n/a	n/a
36	MYBL2	chr12:121421942-121422836	HepG2	liver:	n/a	n/a
37	NR3C1	chr12:121422148-121422599	A549	lung:	n/a	chr12:121422509-121422522
38	HNF4A	chr12:121422130-121422633	HepG2	liver:	n/a	chr12:121422418-121422432 chr12:121422419-121422431 chr12:121422418-121422426 chr12:121422417-121422432 chr12:121422418-121422432 chr12:121422417-121422432 chr12:121422418-121422431 chr12:121422417-121422425 chr12:121422417-121422432 chr12:121422419-121422431 chr12:121422417-121422432 chr12:121422417-121422432
39	CHD2	chr12:121422162-121422608	HepG2	liver:	n/a	n/a
40	ELF1	chr12:121422079-121422711	A549	lung:	n/a	n/a
41	FOXA2	chr12:121422058-121422666	A549	lung:	n/a	n/a
42	GATA3	chr12:121422169-121422599	T-47D	breast:	n/a	n/a
43	NR3C1	chr12:121422126-121422619	A549	lung:	n/a	chr12:121422509-121422522
44	CEBPB	chr12:121422336-121422574	HepG2	liver:	n/a	n/a
45	EP300	chr12:121421528-121422690	A549	lung:	n/a	chr12:121422537-121422553
46	SP1	chr12:121422121-121422715	HepG2	liver:	n/a	chr12:121422542-121422551 chr12:121422542-121422552 chr12:121422541-121422553
47	HNF4A	chr12:121422140-121422749	HepG2	liver:	n/a	chr12:121422418-121422432 chr12:121422419-121422431 chr12:121422418-121422426 chr12:121422417-121422432 chr12:121422418-121422432 chr12:121422417-121422432 chr12:121422418-121422431 chr12:121422417-121422425 chr12:121422417-121422432 chr12:121422419-121422431 chr12:121422417-121422432 chr12:121422417-121422432
48	EP300	chr12:121422138-121422572	HepG2	liver:	n/a	chr12:121422537-121422553

No.	Distal block	Cell Line	Cell type
1	chr12:121412159..121414001-chr12:121420552..121422609,2	MCF-7	breast:
2	chr12:121421859..121423940-chr12:121426161..121428350,2	K562	blood:
3	chr12:121419406..121422092-chr12:121422475..121425429,2	K562	blood:
4	chr12:121417392..121420035-chr12:121422545..121425552,3	K562	blood:

Variant related genes	Relation type
HNF1A-AS1	TF binding region
ENSG00000241388	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv3357747	chr12:121405281-121427388	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121418600-121441000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:121418800-121431800	Weak transcription	Fetal Stomach	stomach
3	chr12:121418800-121439400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:121419200-121431600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:121419400-121423400	Enhancers	Stomach Mucosa	stomach
6	chr12:121419600-121424200	Genic enhancers	Fetal Intestine Small	intestine
7	chr12:121419600-121441000	Weak transcription	Small Intestine	intestine
8	chr12:121419800-121429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:121421000-121422600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:121421200-121426000	Weak transcription	Gastric	stomach
11	chr12:121421200-121426400	Weak transcription	Pancreas	Pancrea
12	chr12:121421600-121422600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:121421600-121422600	Enhancers	Fetal Intestine Large	intestine
14	chr12:121421800-121422600	Flanking Active TSS	Liver	Liver
15	chr12:121421800-121422600	Flanking Active TSS	A549	lung
16	chr12:121421800-121422600	Flanking Active TSS	HepG2	liver
17	chr12:121422000-121422600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:121422000-121422600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:121422000-121422600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:121422000-121422800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr12:121422000-121423000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:121422000-121423400	Enhancers	Colonic Mucosa	Colon
23	chr12:121422200-121422600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:121422200-121422600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:121422200-121422600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr12:121422200-121422800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:121422200-121432800	Weak transcription	Fetal Kidney	kidney
28	chr12:121422400-121422800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr12:121422400-121422800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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