Variant report

Variant	esv3412218
Chromosome Location	chr1:240159854-240162902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs33998142	chr1:240159859-240159860	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs570950969	chr1:240159914-240159915	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs12142200	chr1:240159930-240159931	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188971251	chr1:240159942-240159943	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs568400964	chr1:240159947-240159948	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs535765425	chr1:240159951-240159952	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs554006904	chr1:240159967-240159968	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs571950311	chr1:240159980-240159981	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs181412454	chr1:240159989-240159990	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs138306039	chr1:240160029-240160030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575728981	chr1:240160041-240160042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373458339	chr1:240160049-240160050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544430452	chr1:240160105-240160106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12093992	chr1:240160122-240160123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574656110	chr1:240160153-240160154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59723982	chr1:240160154-240160155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369914662	chr1:240160161-240160162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527691945	chr1:240160197-240160198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552541221	chr1:240160248-240160249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564602169	chr1:240160250-240160251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531827899	chr1:240160354-240160355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550267093	chr1:240160362-240160363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372770996	chr1:240160412-240160413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184098070	chr1:240160439-240160440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535590245	chr1:240160461-240160462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547386556	chr1:240160464-240160465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376771868	chr1:240160525-240160526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570499070	chr1:240160547-240160548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539108286	chr1:240160566-240160567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557307724	chr1:240160602-240160603	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs143895844	chr1:240160610-240160611	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs147278345	chr1:240160662-240160663	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs12749620	chr1:240160760-240160761	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574693234	chr1:240160805-240160806	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567693075	chr1:240160835-240160836	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188489921	chr1:240160839-240160840	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560670821	chr1:240160851-240160852	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140849104	chr1:240160852-240160853	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535790907	chr1:240160853-240160854	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142397255	chr1:240160854-240160855	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150889434	chr1:240160921-240160922	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181036125	chr1:240160953-240160954	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562125771	chr1:240160976-240160977	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186072850	chr1:240160977-240160978	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113058901	chr1:240161047-240161048	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369841234	chr1:240161059-240161060	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74225151	chr1:240161064-240161065	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565861939	chr1:240161091-240161092	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539704340	chr1:240161165-240161166	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564984681	chr1:240161169-240161170	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:240158800-240160600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:240159800-240160000	Bivalent Enhancer	Fetal Brain Female	brain
3	chr1:240160000-240160400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:240160400-240160600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:240160600-240160800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
6	chr1:240160600-240160800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:240160600-240160800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr1:240160600-240160800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
9	chr1:240160600-240160800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:240160600-240160800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:240160600-240160800	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr1:240160600-240160800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr1:240160600-240161000	Bivalent Enhancer	Placenta	Placenta
14	chr1:240160600-240161200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:240160600-240161400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:240160600-240161400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr1:240160600-240161600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:240160600-240161600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:240160600-240161600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:240160600-240161800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:240160600-240161800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:240160600-240161800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:240160600-240161800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:240160600-240161800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:240160600-240161800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
26	chr1:240160600-240161800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:240160600-240161800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:240160600-240161800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr1:240160600-240161800	Bivalent/Poised TSS	HSMM	muscle
30	chr1:240160800-240161000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
31	chr1:240160800-240161000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
32	chr1:240160800-240161000	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr1:240160800-240161000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr1:240160800-240161000	Bivalent/Poised TSS	Psoas Muscle	Psoas
35	chr1:240160800-240161200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:240160800-240161200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:240160800-240161200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr1:240160800-240161200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
39	chr1:240160800-240161200	Enhancers	Gastric	stomach
40	chr1:240160800-240161200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
41	chr1:240160800-240161400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:240160800-240161400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:240160800-240161400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:240160800-240161600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:240160800-240161600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr1:240160800-240161600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:240160800-240161600	Bivalent Enhancer	Left Ventricle	heart
48	chr1:240160800-240161600	Bivalent Enhancer	Lung	lung
49	chr1:240160800-240161600	Flanking Bivalent TSS/Enh	Ovary	ovary
50	chr1:240160800-240161600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links