Variant report

Variant	rs530759604
Chromosome Location	chr12:121415964-121415965
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	HEY1	chr12:121415737-121419289	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:121415795-121417611	HepG2	liver:	n/a	n/a
3	YY1	chr12:121415647-121416189	H1-hESC	embryonic stem cell:	n/a	chr12:121415968-121415980
4	EP300	chr12:121415960-121416682	A549	lung:	n/a	chr12:121416351-121416361 chr12:121416022-121416038
5	SP1	chr12:121415925-121416609	HepG2	liver:	n/a	chr12:121416402-121416416
6	BRCA1	chr12:121415950-121416465	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:121415904-121417055	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:121415550-121419599	HepG2	liver:	n/a	n/a
9	YY1	chr12:121415741-121416694	HepG2	liver:	n/a	chr12:121415968-121415980 chr12:121416250-121416269
10	BCL3	chr12:121415555-121416577	A549	lung:	n/a	n/a
11	TAF1	chr12:121415918-121416966	HepG2	liver:	n/a	n/a
12	SP1	chr12:121415901-121416684	A549	lung:	n/a	chr12:121416402-121416416
13	POLR2A	chr12:121415325-121419806	HepG2	liver:	n/a	n/a
14	SIX5	chr12:121415748-121416790	A549	lung:	n/a	n/a
15	FOXA2	chr12:121415820-121416791	HepG2	liver:	n/a	n/a
16	YY1	chr12:121415830-121416116	GM12892	blood:	n/a	chr12:121415968-121415980
17	TBP	chr12:121415926-121416640	HepG2	liver:	n/a	n/a
18	YY1	chr12:121415631-121416637	A549	lung:	n/a	chr12:121415968-121415980 chr12:121416250-121416269
19	NFIC	chr12:121415708-121416802	HepG2	liver:	n/a	n/a
20	SP1	chr12:121415886-121416755	A549	lung:	n/a	chr12:121416402-121416416
21	FOXA2	chr12:121415949-121416776	A549	lung:	n/a	n/a
22	HNF4G	chr12:121415923-121416628	HepG2	liver:	n/a	chr12:121416283-121416298 chr12:121416290-121416298 chr12:121416283-121416297 chr12:121416283-121416298 chr12:121416284-121416296 chr12:121416284-121416292 chr12:121416283-121416298 chr12:121416284-121416296 chr12:121416284-121416296 chr12:121416281-121416299 chr12:121416324-121416336 chr12:121416285-121416297 chr12:121416283-121416296 chr12:121416283-121416297 chr12:121416283-121416296 chr12:121416283-121416296 chr12:121416283-121416298 chr12:121416284-121416297
23	HNF4A	chr12:121415947-121416552	HepG2	liver:	n/a	chr12:121416283-121416298 chr12:121416290-121416298 chr12:121416283-121416297 chr12:121416283-121416298 chr12:121416284-121416296 chr12:121416284-121416292 chr12:121416283-121416298 chr12:121416284-121416296 chr12:121416284-121416296 chr12:121416281-121416299 chr12:121416324-121416336 chr12:121416285-121416297 chr12:121416283-121416296 chr12:121416283-121416297 chr12:121416282-121416297 chr12:121416283-121416296 chr12:121416283-121416296 chr12:121416283-121416298 chr12:121416284-121416297
24	POLR2A	chr12:121415962-121416712	HepG2	liver:	n/a	n/a
25	YY1	chr12:121415803-121416159	H1-hESC	embryonic stem cell:	n/a	chr12:121415968-121415980
26	EP300	chr12:121415955-121416609	HepG2	liver:	n/a	chr12:121416351-121416361 chr12:121416022-121416038
27	MAX	chr12:121415630-121419965	A549	lung:	n/a	chr12:121416508-121416515 chr12:121416545-121416554 chr12:121418418-121418428 chr12:121416195-121416205
28	REST	chr12:121415955-121416628	HepG2	liver:	n/a	chr12:121416189-121416202 chr12:121416151-121416159 chr12:121416328-121416337
29	YY1	chr12:121415832-121416055	K562	blood:	n/a	chr12:121415968-121415980
30	MYBL2	chr12:121415660-121416586	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:121414963-121419793	HepG2	liver:	n/a	n/a
32	MAX	chr12:121415680-121417324	A549	lung:	n/a	chr12:121416508-121416515 chr12:121416545-121416554 chr12:121416195-121416205
33	MAX	chr12:121415802-121416695	HepG2	liver:	n/a	chr12:121416508-121416515 chr12:121416545-121416554 chr12:121416195-121416205
34	MXI1	chr12:121415888-121416720	HepG2	liver:	n/a	n/a
35	RCOR1	chr12:121415751-121416692	HepG2	liver:	n/a	n/a
36	HEY1	chr12:121415627-121416696	HepG2	liver:	n/a	n/a
37	MYBL2	chr12:121415964-121416774	HepG2	liver:	n/a	n/a
38	YY1	chr12:121415714-121416488	HepG2	liver:	n/a	chr12:121415968-121415980 chr12:121416250-121416269
39	REST	chr12:121415510-121416633	A549	lung:	n/a	chr12:121416189-121416202 chr12:121416151-121416159 chr12:121416328-121416337
40	TCF12	chr12:121415420-121417560	A549	lung:	n/a	chr12:121416165-121416175
41	MBD4	chr12:121415948-121416500	HepG2	liver:	n/a	n/a
42	MAX	chr12:121415558-121416884	HepG2	liver:	n/a	chr12:121416508-121416515 chr12:121416545-121416554 chr12:121416195-121416205
43	FOSL2	chr12:121415768-121416656	A549	lung:	n/a	n/a
44	HNF4A	chr12:121415793-121416743	HepG2	liver:	n/a	chr12:121416283-121416298 chr12:121416290-121416298 chr12:121416283-121416297 chr12:121416283-121416298 chr12:121416284-121416296 chr12:121416284-121416292 chr12:121416283-121416298 chr12:121416284-121416296 chr12:121416284-121416296 chr12:121416281-121416299 chr12:121416324-121416336 chr12:121416285-121416297 chr12:121416283-121416296 chr12:121416283-121416297 chr12:121416282-121416297 chr12:121416283-121416296 chr12:121416283-121416296 chr12:121416283-121416298 chr12:121416284-121416297
45	GATA3	chr12:121415753-121416776	A549	lung:	n/a	chr12:121416427-121416435
46	MYC	chr12:121415745-121416850	A549	lung:	n/a	chr12:121416508-121416515 chr12:121416545-121416554 chr12:121416195-121416205

Variant related genes	Relation type
HNF1A	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121400600-121416000	Weak transcription	Small Intestine	intestine
2	chr12:121408200-121417800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:121409600-121418400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:121409600-121422200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:121410000-121418600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:121411200-121416000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:121411400-121418200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:121411400-121418200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:121412200-121416000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:121412200-121416000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:121414200-121417600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
12	chr12:121414600-121418800	Active TSS	Gastric	stomach
13	chr12:121414600-121419000	Weak transcription	Fetal Lung	lung
14	chr12:121415200-121416200	Flanking Active TSS	Liver	Liver
15	chr12:121415400-121416200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr12:121415400-121416400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:121415400-121418800	Active TSS	Rectal Smooth Muscle	rectum
18	chr12:121415400-121419200	Active TSS	Fetal Kidney	kidney
19	chr12:121415400-121419800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:121415600-121416000	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
21	chr12:121415600-121416000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr12:121415600-121416200	Flanking Active TSS	Colonic Mucosa	Colon
23	chr12:121415600-121416200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
24	chr12:121415600-121416200	Flanking Active TSS	Pancreas	Pancrea
25	chr12:121415600-121416200	Flanking Active TSS	Stomach Mucosa	stomach
26	chr12:121415600-121416200	Flanking Active TSS	A549	lung
27	chr12:121415600-121416800	Active TSS	Stomach Smooth Muscle	stomach
28	chr12:121415600-121418600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:121415800-121416000	Enhancers	Colon Smooth Muscle	Colon
30	chr12:121415800-121416000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
31	chr12:121415800-121416200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr12:121415800-121416200	Flanking Bivalent TSS/Enh	HepG2	liver

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