Variant report

Variant	esv2304016
Chromosome Location	chr1:85748583-85749154
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	chr1:85749102-85749407	H1-hESC	embryonic stem cell:	n/a	chr1:85749276-85749287
2	CEBPB	chr1:85749112-85749470	Hela-S3	cervix:	n/a	chr1:85749276-85749287
3	CEBPB	chr1:85748919-85749601	HCT-116	colon:	n/a	chr1:85749276-85749287
4	CEBPB	chr1:85749072-85749454	ECC-1	luminal epithelium:	n/a	chr1:85749276-85749287
5	CEBPB	chr1:85749096-85749471	HepG2	liver:	n/a	chr1:85749276-85749287
6	CEBPB	chr1:85749091-85749470	K562	blood:	n/a	chr1:85749276-85749287
7	CEBPB	chr1:85749119-85749404	A549	lung:	n/a	chr1:85749276-85749287
8	CEBPB	chr1:85749088-85749355	K562	blood:	n/a	chr1:85749276-85749287
9	CEBPB	chr1:85749110-85749721	HepG2	liver:	n/a	chr1:85749276-85749287
10	CEBPB	chr1:85749034-85749344	HepG2	liver:	n/a	chr1:85749276-85749287
11	CEBPB	chr1:85749043-85749409	K562	blood:	n/a	chr1:85749276-85749287
12	CEBPB	chr1:85749071-85749458	ECC-1	luminal epithelium:	n/a	chr1:85749276-85749287
13	CTCF	chr1:85748003-85748623	HCT-116	colon:	n/a	chr1:85748353-85748362
14	CTCF	chr1:85747896-85748721	A549	lung:	n/a	chr1:85748353-85748362
15	CTCF	chr1:85748054-85748591	MCF-7	breast:	n/a	chr1:85748353-85748362
16	EGR1	chr1:85749085-85749492	K562	blood:	n/a	n/a
17	EGR1	chr1:85749115-85749426	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:85740526..85742722-chr1:85746661..85748660,2	MCF-7	breast:
2	chr1:85741905..85744580-chr1:85747619..85751624,6	K562	blood:
3	chr1:85743465..85746291-chr1:85746776..85749038,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264380	TF binding region
ENSG00000142867	chromatin interactions
ENSG00000223653	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202012787	chr1:85748635-85748636	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs200172333	chr1:85748636-85748637	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs529392609	chr1:85748811-85748812	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs373511761	chr1:85748814-85748815	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545458083	chr1:85748893-85748894	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559506050	chr1:85748947-85748948	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs528325838	chr1:85748948-85748949	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs551673954	chr1:85748949-85748950	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs367661984	chr1:85748950-85748951	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs530498672	chr1:85748997-85748998	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs558200898	chr1:85749026-85749027	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs5775830	chr1:85749068-85749069	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs397980683	chr1:85749069-85749070	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs140766727	chr1:85749103-85749104	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85749200	Weak transcription	Fetal Stomach	stomach
3	chr1:85743000-85749200	Weak transcription	Psoas Muscle	Psoas
4	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
5	chr1:85743200-85752000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:85745200-85753600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:85745400-85749000	Weak transcription	A549	lung
8	chr1:85745400-85749200	Weak transcription	Colonic Mucosa	Colon
9	chr1:85745400-85749400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:85745600-85749000	Weak transcription	Stomach Mucosa	stomach
11	chr1:85745600-85749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:85745600-85749200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:85745600-85749400	Weak transcription	Gastric	stomach
14	chr1:85745600-85749400	Weak transcription	Pancreas	Pancrea
15	chr1:85745800-85749000	Weak transcription	HMEC	breast
16	chr1:85745800-85749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:85745800-85749400	Weak transcription	Lung	lung
18	chr1:85745800-85749600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:85746800-85749000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:85746800-85753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:85747000-85749200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:85747000-85749600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:85747200-85749200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:85747600-85749400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:85747600-85750200	Weak transcription	Primary B cells from cord blood	blood
26	chr1:85747800-85748600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:85747800-85748600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:85747800-85748600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:85747800-85750000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:85748000-85748600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:85748000-85748600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:85748000-85749200	Enhancers	HepG2	liver
33	chr1:85748000-85749600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:85748000-85749800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:85748000-85750000	Enhancers	NHEK	skin
36	chr1:85748200-85748600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:85748400-85748800	Weak transcription	Esophagus	oesophagus
38	chr1:85748400-85749600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:85748800-85749600	Weak transcription	Fetal Intestine Small	intestine
41	chr1:85748800-85750800	Enhancers	Esophagus	oesophagus
42	chr1:85749000-85749200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:85749000-85749600	Enhancers	A549	lung
44	chr1:85749000-85749800	Enhancers	HMEC	breast
45	chr1:85749000-85750200	Enhancers	Stomach Mucosa	stomach

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