Variant report

Variant	esv3502070
Chromosome Location	chr1:92231938-92233443
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	CEBPB	chr1:92231054-92232006	K562	blood:	n/a	chr1:92231639-92231650
2	EP300	chr1:92232479-92232910	HepG2	liver:	n/a	n/a
3	EP300	chr1:92232407-92232866	HepG2	liver:	n/a	n/a
4	FOXA1	chr1:92232435-92233005	HepG2	liver:	n/a	chr1:92232745-92232757 chr1:92232749-92232761
5	FOXA1	chr1:92232375-92232876	HepG2	liver:	n/a	chr1:92232745-92232757 chr1:92232749-92232761
6	FOXA1	chr1:92232444-92232885	HepG2	liver:	n/a	chr1:92232745-92232757 chr1:92232749-92232761
7	FOXA1	chr1:92232441-92232954	HepG2	liver:	n/a	chr1:92232745-92232757 chr1:92232749-92232761
8	FOXA2	chr1:92232435-92232878	HepG2	liver:	n/a	chr1:92232745-92232757 chr1:92232749-92232761
9	FOXA2	chr1:92232353-92233108	HepG2	liver:	n/a	chr1:92232745-92232757 chr1:92232749-92232761
10	MAFK	chr1:92232962-92233125	HepG2	liver:	n/a	n/a
11	MYBL2	chr1:92232389-92232973	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:92232158-92232677	HepG2	liver:	n/a	n/a
13	SP1	chr1:92232442-92232871	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92231081..92233303-chr1:92233328..92236066,2	K562	blood:
2	chr1:92232541..92234077-chr1:92245076..92247021,2	K562	blood:

Variant related genes	Relation type
TGFBR3	TF binding region
ENSG00000069702	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548633857	chr1:92231944-92231945	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540111387	chr1:92231947-92231948	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561563189	chr1:92231952-92231953	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529014907	chr1:92231973-92231974	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182637535	chr1:92232037-92232038	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562351644	chr1:92232051-92232052	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372004978	chr1:92232171-92232172	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531270123	chr1:92232173-92232174	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs551191506	chr1:92232197-92232198	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs186399767	chr1:92232271-92232272	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs375137721	chr1:92232297-92232298	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs530899006	chr1:92232333-92232334	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552573956	chr1:92232375-92232376	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs371333258	chr1:92232380-92232381	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs375938907	chr1:92232397-92232398	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs78545609	chr1:92232414-92232415	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376252913	chr1:92232462-92232463	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs547279220	chr1:92232562-92232563	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs191259065	chr1:92232564-92232565	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs58198708	chr1:92232600-92232601	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557265866	chr1:92232637-92232638	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs575335185	chr1:92232688-92232689	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs188645594	chr1:92232741-92232742	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs57491683	chr1:92232759-92232760	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79924371	chr1:92232791-92232792	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs75899677	chr1:92232872-92232873	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs193138245	chr1:92232881-92232882	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs573595461	chr1:92233087-92233088	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs183309767	chr1:92233090-92233091	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs562528492	chr1:92233154-92233155	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs146406686	chr1:92233224-92233225	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114625600	chr1:92233307-92233308	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144162209	chr1:92233333-92233334	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11808340	chr1:92233389-92233390	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138472624	chr1:92233436-92233437	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200815221	chr1:92233442-92233443	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:92208400-92235800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:92211800-92235600	Weak transcription	Fetal Kidney	kidney
4	chr1:92213800-92235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:92215200-92232400	Weak transcription	A549	lung
6	chr1:92216800-92241800	Weak transcription	Aorta	Aorta
7	chr1:92217400-92232400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:92217800-92247800	Weak transcription	Small Intestine	intestine
9	chr1:92219400-92238200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:92220400-92234000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:92220600-92255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:92221000-92248000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:92223800-92232000	Enhancers	K562	blood
14	chr1:92224400-92242800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:92224800-92234400	Weak transcription	Right Ventricle	heart
16	chr1:92225200-92232000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:92225200-92235000	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:92225400-92234400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:92225400-92241600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:92226600-92236400	Weak transcription	Brain Substantia Nigra	brain
21	chr1:92226800-92232000	Enhancers	Placenta	Placenta
22	chr1:92227000-92257200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:92227200-92234600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:92227200-92234800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:92227800-92235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:92228600-92235200	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:92229200-92232400	Genic enhancers	HepG2	liver
28	chr1:92229200-92241600	Weak transcription	Esophagus	oesophagus
29	chr1:92229400-92235200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:92230200-92232800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:92230200-92234400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:92230200-92240800	Weak transcription	Right Atrium	heart
33	chr1:92230400-92234400	Weak transcription	Osteobl	bone
34	chr1:92230400-92234800	Weak transcription	Left Ventricle	heart
35	chr1:92230400-92242400	Weak transcription	Lung	lung
36	chr1:92230600-92232200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:92230600-92233200	Strong transcription	NHDF-Ad	bronchial
38	chr1:92230600-92234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:92230600-92235400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:92230600-92247800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:92230800-92232000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:92231000-92232000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:92231000-92232400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:92231000-92234800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:92231000-92246800	Weak transcription	Hela-S3	cervix
46	chr1:92231200-92232000	Weak transcription	Ovary	ovary
47	chr1:92231200-92234000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:92231200-92234200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:92231200-92234200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:92231200-92234200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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