Variant report

Variant	esv3392150
Chromosome Location	chr12:121432611-121433014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:121432640-121432909	HepG2	liver:	n/a	n/a
2	JUND	chr12:121432492-121433023	A549	lung:	n/a	n/a
3	JUND	chr12:121432543-121433007	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr12:121432830-121432841	K562	blood:	n/a	n/a
5	JUND	chr12:121432423-121433102	A549	lung:	n/a	n/a
6	JUND	chr12:121432467-121433023	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:121432606-121432723	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:121430577-121435763	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:121432734-121432735	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:121432980-121433094	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:121432806-121433062	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:121432922-121432975	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:121430259-121432845	HepG2	liver:	n/a	n/a
14	RCOR1	chr12:121432660-121432918	K562	blood:	n/a	n/a
15	RFX5	chr12:121432673-121432695	K562	blood:	n/a	n/a
16	SP1	chr12:121432394-121433215	H1-hESC	embryonic stem cell:	n/a	n/a
17	SP1	chr12:121432480-121433252	HCT-116	colon:	n/a	n/a
18	SP1	chr12:121432320-121433129	K562	blood:	n/a	n/a
19	SP1	chr12:121432320-121433185	A549	lung:	n/a	n/a
20	SP1	chr12:121432509-121432987	GM12878	blood:	n/a	n/a
21	SP1	chr12:121432227-121433261	A549	lung:	n/a	n/a
22	SP1	chr12:121432584-121432973	K562	blood:	n/a	n/a
23	SP1	chr12:121432303-121433240	H1-hESC	embryonic stem cell:	n/a	n/a
24	SP1	chr12:121432487-121433253	HCT-116	colon:	n/a	n/a
25	SP1	chr12:121432439-121433091	GM12878	blood:	n/a	n/a
26	ZNF263	chr12:121432156-121433084	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121429573..121435133-chr12:121436242..121441204,7	K562	blood:

No data

Variant related genes	Relation type
HNF1A	TF binding region
ENSG00000271769	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566903967	chr12:121432613-121432614	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535829911	chr12:121432653-121432654	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148285095	chr12:121432667-121432668	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs55691303	chr12:121432670-121432671	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs386767008	chr12:121432674-121432675	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs56405042	chr12:121432675-121432676	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111205124	chr12:121432677-121432678	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs56184283	chr12:121432680-121432681	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555746888	chr12:121432715-121432716	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539865178	chr12:121432724-121432725	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575489037	chr12:121432756-121432757	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs186002499	chr12:121432893-121432894	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557936231	chr12:121432964-121432965	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs577734767	chr12:121432968-121432969	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs539956805	chr12:121433000-121433001	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121418600-121441000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:121418800-121439400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:121419600-121441000	Weak transcription	Small Intestine	intestine
4	chr12:121422200-121432800	Weak transcription	Fetal Kidney	kidney
5	chr12:121424400-121432800	Weak transcription	Stomach Mucosa	stomach
6	chr12:121426200-121440200	Strong transcription	HepG2	liver
7	chr12:121426600-121434000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:121427600-121442600	Strong transcription	Fetal Intestine Large	intestine
9	chr12:121427800-121441200	Strong transcription	Fetal Intestine Small	intestine
10	chr12:121428800-121435000	Strong transcription	Liver	Liver
11	chr12:121429800-121442000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr12:121429800-121451600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr12:121431200-121435400	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:121431200-121435800	Strong transcription	Gastric	stomach
15	chr12:121431200-121439200	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr12:121431200-121440600	Weak transcription	Fetal Lung	lung
17	chr12:121431400-121435800	Strong transcription	Pancreas	Pancrea
18	chr12:121431600-121433400	Strong transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:121431600-121435600	Strong transcription	Colonic Mucosa	Colon
20	chr12:121432200-121433400	Weak transcription	Fetal Stomach	stomach
21	chr12:121432200-121433600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
22	chr12:121432400-121434600	Strong transcription	A549	lung
23	chr12:121432600-121441200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:121432800-121433200	Strong transcription	Fetal Kidney	kidney
25	chr12:121432800-121433200	Strong transcription	Stomach Mucosa	stomach

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