Variant report

Variant	rs76729898
Chromosome Location	chr12:121416225-121416226
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	MBD4	chr12:121416018-121416561	HepG2	liver:	n/a	n/a
2	TEAD4	chr12:121415976-121416603	HepG2	liver:	n/a	n/a
3	ZBTB7A	chr12:121416116-121416466	HepG2	liver:	n/a	chr12:121416442-121416456 chr12:121416441-121416455
4	HEY1	chr12:121415737-121419289	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:121415795-121417611	HepG2	liver:	n/a	n/a
6	MAZ	chr12:121416037-121416612	HepG2	liver:	n/a	chr12:121416508-121416515 chr12:121416545-121416554 chr12:121416195-121416205
7	NR3C1	chr12:121416117-121416498	A549	lung:	n/a	chr12:121416447-121416460
8	EP300	chr12:121415960-121416682	A549	lung:	n/a	chr12:121416351-121416361 chr12:121416022-121416038
9	SP1	chr12:121415925-121416609	HepG2	liver:	n/a	chr12:121416402-121416416
10	BRCA1	chr12:121415950-121416465	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:121415904-121417055	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:121415550-121419599	HepG2	liver:	n/a	n/a
13	JUND	chr12:121415998-121416486	HepG2	liver:	n/a	n/a
14	YY1	chr12:121415741-121416694	HepG2	liver:	n/a	chr12:121415968-121415980 chr12:121416250-121416269
15	BCL3	chr12:121415555-121416577	A549	lung:	n/a	n/a
16	RAD21	chr12:121416041-121416522	HepG2	liver:	n/a	n/a
17	ZBTB7A	chr12:121416048-121416497	HepG2	liver:	n/a	chr12:121416442-121416456 chr12:121416441-121416455
18	FOXA1	chr12:121415997-121416576	HepG2	liver:	n/a	n/a
19	TAF1	chr12:121415918-121416966	HepG2	liver:	n/a	n/a
20	SP1	chr12:121415901-121416684	A549	lung:	n/a	chr12:121416402-121416416
21	POLR2A	chr12:121415970-121416693	HepG2	liver:	n/a	n/a
22	POLR2A	chr12:121415325-121419806	HepG2	liver:	n/a	n/a
23	JUND	chr12:121416141-121416559	A549	lung:	n/a	n/a
24	HDAC2	chr12:121415992-121416581	HepG2	liver:	n/a	n/a
25	SIX5	chr12:121415748-121416790	A549	lung:	n/a	n/a
26	FOXA2	chr12:121415820-121416791	HepG2	liver:	n/a	n/a
27	MAX	chr12:121416105-121416690	A549	lung:	n/a	chr12:121416508-121416515 chr12:121416545-121416554 chr12:121416195-121416205
28	FOXA1	chr12:121415977-121416673	HepG2	liver:	n/a	n/a
29	SRF	chr12:121416192-121416402	HepG2	liver:	n/a	n/a
30	CEBPD	chr12:121415992-121416783	HepG2	liver:	n/a	n/a
31	FOXA2	chr12:121416075-121416520	HepG2	liver:	n/a	n/a
32	TBP	chr12:121415926-121416640	HepG2	liver:	n/a	n/a
33	CHD2	chr12:121416074-121416626	HepG2	liver:	n/a	n/a
34	YY1	chr12:121415631-121416637	A549	lung:	n/a	chr12:121415968-121415980 chr12:121416250-121416269
35	POLR2A	chr12:121416068-121416317	A549	lung:	n/a	n/a
36	SIN3AK20	chr12:121416081-121416417	HepG2	liver:	n/a	n/a
37	REST	chr12:121416170-121416472	HepG2	liver:	n/a	chr12:121416189-121416202 chr12:121416328-121416337
38	HNF4A	chr12:121416081-121416623	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
39	NFIC	chr12:121415708-121416802	HepG2	liver:	n/a	n/a
40	CREB1	chr12:121416104-121416545	A549	lung:	n/a	n/a
41	SP1	chr12:121415886-121416755	A549	lung:	n/a	chr12:121416402-121416416
42	MAFK	chr12:121416022-121416446	HepG2	liver:	n/a	n/a
43	REST	chr12:121416068-121416688	A549	lung:	n/a	chr12:121416189-121416202 chr12:121416151-121416159 chr12:121416328-121416337
44	FOXA2	chr12:121415949-121416776	A549	lung:	n/a	n/a
45	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
46	RXRA	chr12:121416119-121416474	HepG2	liver:	n/a	chr12:121416283-121416296 chr12:121416288-121416297 chr12:121416283-121416296
47	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
48	RAD21	chr12:121416100-121416527	HepG2	liver:	n/a	n/a
49	JUND	chr12:121416028-121416518	HepG2	liver:	n/a	n/a
50	POLR2A	chr12:121415962-121416712	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121159870..121162504-chr12:121416031..121417915,2	K562	blood:

Variant related genes	Relation type
HNF1A	TF binding region
ENSG00000265455	Chromatin interaction
ENSG00000256569	Chromatin interaction

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	chr12:121408200-121417800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:121409600-121418400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:121409600-121422200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121410000-121418600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:121411400-121418200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:121411400-121418200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:121414200-121417600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
8	chr12:121414600-121418800	Active TSS	Gastric	stomach
9	chr12:121414600-121419000	Weak transcription	Fetal Lung	lung
10	chr12:121415400-121416400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:121415400-121418800	Active TSS	Rectal Smooth Muscle	rectum
12	chr12:121415400-121419200	Active TSS	Fetal Kidney	kidney
13	chr12:121415400-121419800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:121415600-121416800	Active TSS	Stomach Smooth Muscle	stomach
15	chr12:121415600-121418600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr12:121416000-121416600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:121416000-121417400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:121416000-121418800	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr12:121416000-121418800	Active TSS	Small Intestine	intestine
20	chr12:121416000-121419000	Active TSS	Fetal Intestine Large	intestine
21	chr12:121416000-121419000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr12:121416000-121419200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr12:121416200-121416400	Active TSS	Fetal Stomach	stomach
24	chr12:121416200-121416400	Active TSS	A549	lung
25	chr12:121416200-121416600	Active TSS	Colon Smooth Muscle	Colon
26	chr12:121416200-121418000	Bivalent/Poised TSS	HepG2	liver
27	chr12:121416200-121418400	Active TSS	Liver	Liver
28	chr12:121416200-121418800	Active TSS	Pancreas	Pancrea
29	chr12:121416200-121419000	Active TSS	Colonic Mucosa	Colon
30	chr12:121416200-121419000	Active TSS	Duodenum Mucosa	Duodenum
31	chr12:121416200-121419000	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr12:121416200-121419000	Active TSS	Stomach Mucosa	stomach

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