Variant report

Variant	esv3452791
Chromosome Location	chr1:247103849-247104646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247093661..247096867-chr1:247100699..247105477,5	K562	blood:
2	chr1:246946643..246948588-chr1:247104112..247106785,2	K562	blood:

Variant related genes	Relation type
ENSG00000153207	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146348461	chr1:247103849-247103850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530825010	chr1:247103857-247103858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550516104	chr1:247103858-247103859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567473084	chr1:247103859-247103860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529967940	chr1:247103864-247103865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12736821	chr1:247103865-247103866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188142254	chr1:247103868-247103869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12736825	chr1:247103872-247103873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573245513	chr1:247103878-247103879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538829759	chr1:247103887-247103888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs28514465	chr1:247103888-247103889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568930010	chr1:247103889-247103890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540221157	chr1:247103892-247103893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554575528	chr1:247103893-247103894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574266781	chr1:247103906-247103907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184273705	chr1:247103908-247103909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12736838	chr1:247103910-247103911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12736578	chr1:247103914-247103915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553160200	chr1:247103926-247103927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553369314	chr1:247103936-247103937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573424355	chr1:247103943-247103944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545156970	chr1:247103944-247103945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs28501970	chr1:247103945-247103946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530885711	chr1:247103948-247103949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs57657434	chr1:247103955-247103956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs60312595	chr1:247103962-247103963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs58571412	chr1:247103964-247103965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561371120	chr1:247103971-247103972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375360576	chr1:247103975-247103976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546917957	chr1:247103987-247103988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562074598	chr1:247103993-247103994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376712966	chr1:247104000-247104001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565029894	chr1:247104011-247104012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7410910	chr1:247104023-247104024	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192506818	chr1:247104037-247104038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185019744	chr1:247104038-247104039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568075985	chr1:247104046-247104047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7417381	chr1:247104047-247104048	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs189004805	chr1:247104051-247104052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs573155769	chr1:247104056-247104057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181497469	chr1:247104061-247104062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558694915	chr1:247104077-247104078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577883164	chr1:247104091-247104092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs575420472	chr1:247104138-247104139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143882536	chr1:247104207-247104208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561226427	chr1:247104289-247104290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs6426189	chr1:247104295-247104296	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs540219526	chr1:247104335-247104336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535065934	chr1:247104343-247104344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113389376	chr1:247104402-247104403	Weak transcription	Chromatin interactive region	1 gene(s)	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
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Bipolar disorder	19114987	CNVD
Lung adenocarcinoma	21935476	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247095800-247124800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:247096000-247104600	Weak transcription	Fetal Brain Female	brain
3	chr1:247096000-247110600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:247096000-247110800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:247096000-247110800	Weak transcription	Right Atrium	heart
6	chr1:247096000-247114600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:247096000-247121000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:247096000-247121800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:247096000-247125000	Weak transcription	Brain Germinal Matrix	brain
10	chr1:247096000-247130400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:247096000-247131600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:247096000-247131800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:247096200-247106800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:247096200-247106800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:247096200-247109800	Weak transcription	HUVEC	blood vessel
16	chr1:247096200-247110000	Weak transcription	HepG2	liver
17	chr1:247096200-247110600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:247096200-247112000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:247096200-247112200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:247096200-247117400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:247096200-247123000	Weak transcription	K562	blood
22	chr1:247096200-247128400	Weak transcription	Fetal Stomach	stomach
23	chr1:247096400-247110600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:247102400-247123000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:247102800-247106000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:247102800-247106600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:247102800-247107000	Weak transcription	Dnd41	blood
28	chr1:247102800-247109800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:247102800-247122000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:247103000-247105200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:247103000-247106000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:247103000-247121600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:247103200-247105200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links