Variant report

Variant	esv3374215
Chromosome Location	chr12:121423182-121423451
allele	n/a
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	POLR2A	chr12:121423210-121423230	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:121423291-121423449	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121417392..121420035-chr12:121422545..121425552,3	K562	blood:
2	chr12:121419406..121422092-chr12:121422475..121425429,2	K562	blood:
3	chr12:121421859..121423940-chr12:121426161..121428350,2	K562	blood:

Variant related genes	Relation type
HNF1A-AS1	TF binding region
ENSG00000241388	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569654375	chr12:121423249-121423250	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11065384	chr12:121423285-121423286	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs111934888	chr12:121423287-121423288	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552140366	chr12:121423297-121423298	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7970695	chr12:121423376-121423377	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11065385	chr12:121423386-121423387	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138206305	chr12:121423394-121423395	Weak transcription Enhancers Genic enhancers	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	chr12:121418800-121431800	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	chr12:121421200-121426000	Weak transcription	Gastric	stomach
10	chr12:121421200-121426400	Weak transcription	Pancreas	Pancrea
11	chr12:121422000-121423400	Enhancers	Colonic Mucosa	Colon
12	chr12:121422200-121432800	Weak transcription	Fetal Kidney	kidney
13	chr12:121422600-121423400	Genic enhancers	Fetal Intestine Large	intestine
14	chr12:121422600-121423400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:121422600-121424600	Enhancers	Liver	Liver
16	chr12:121423000-121424000	Weak transcription	A549	lung
17	chr12:121423000-121426000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:121423000-121426200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:121423000-121426200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:121423000-121426200	Weak transcription	HepG2	liver
21	chr12:121423000-121426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:121423400-121423800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:121423400-121423800	Weak transcription	Stomach Mucosa	stomach
24	chr12:121423400-121424400	Enhancers	Fetal Intestine Large	intestine
25	chr12:121423400-121431600	Weak transcription	Colonic Mucosa	Colon

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