Variant report

Variant	esv3452789
Chromosome Location	chr1:246702891-246703655
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	chr1:246703270..246704853-chr1:247491463..247493395,2	K562	blood:

Variant related genes	Relation type
ENSG00000162714	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188622486	chr1:246702906-246702907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547732765	chr1:246702907-246702908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566246043	chr1:246702954-246702955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6694799	chr1:246702959-246702960	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551805520	chr1:246702967-246702968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193259670	chr1:246702977-246702978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537593882	chr1:246702978-246702979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557049758	chr1:246702986-246702987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567355656	chr1:246702987-246702988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10924775	chr1:246702989-246702990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113406703	chr1:246702990-246702991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73142130	chr1:246703010-246703011	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73142132	chr1:246703049-246703050	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543095077	chr1:246703057-246703058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141002384	chr1:246703063-246703064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575244444	chr1:246703111-246703112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199750825	chr1:246703121-246703122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544324343	chr1:246703122-246703123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572779965	chr1:246703175-246703176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560854505	chr1:246703211-246703212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529732713	chr1:246703215-246703216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149789259	chr1:246703234-246703235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543318608	chr1:246703241-246703242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72762720	chr1:246703244-246703245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3120695	chr1:246703245-246703246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73142133	chr1:246703260-246703261	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376069826	chr1:246703281-246703282	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540322066	chr1:246703334-246703335	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs71992409	chr1:246703346-246703347	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34075073	chr1:246703353-246703354	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555506533	chr1:246703356-246703357	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571858170	chr1:246703361-246703362	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530892460	chr1:246703365-246703366	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185169082	chr1:246703377-246703378	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567291753	chr1:246703378-246703379	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377658360	chr1:246703390-246703391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536245502	chr1:246703391-246703392	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534337966	chr1:246703393-246703394	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs552918344	chr1:246703399-246703400	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577888620	chr1:246703406-246703407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538969129	chr1:246703407-246703408	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188811564	chr1:246703408-246703409	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558452664	chr1:246703423-246703424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146811098	chr1:246703429-246703430	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528960709	chr1:246703460-246703461	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549154654	chr1:246703482-246703483	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145635803	chr1:246703485-246703486	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12134500	chr1:246703487-246703488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs191604803	chr1:246703488-246703489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373579172	chr1:246703489-246703490	Weak transcription Strong 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
Rett syndrome	21593744	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
Schizophrenia	20967226	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246691200-246703000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:246694400-246704000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:246694400-246704200	Weak transcription	Left Ventricle	heart
4	chr1:246694600-246706600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:246694800-246706600	Weak transcription	Right Ventricle	heart
6	chr1:246697400-246704200	Weak transcription	Lung	lung
7	chr1:246698000-246705000	Weak transcription	Small Intestine	intestine
8	chr1:246698200-246703600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:246698200-246705800	Weak transcription	NHLF	lung
10	chr1:246698800-246703000	Weak transcription	Ovary	ovary
11	chr1:246699200-246705800	Weak transcription	HUVEC	blood vessel
12	chr1:246699400-246706200	Weak transcription	Spleen	Spleen
13	chr1:246699600-246703200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:246699600-246704200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:246699600-246704200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:246699800-246703200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:246699800-246703800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:246699800-246704000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:246699800-246704200	Weak transcription	GM12878-XiMat	blood
20	chr1:246699800-246704600	Weak transcription	Aorta	Aorta
21	chr1:246699800-246705200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:246699800-246705200	Weak transcription	NHDF-Ad	bronchial
23	chr1:246700000-246704200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:246700000-246705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:246700200-246703000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:246700200-246703800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:246700200-246706400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:246700400-246704000	Weak transcription	HMEC	breast
29	chr1:246700400-246704200	Weak transcription	K562	blood
30	chr1:246700400-246705600	Weak transcription	Esophagus	oesophagus
31	chr1:246700600-246703600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:246700600-246703600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:246700600-246704200	Weak transcription	A549	lung
34	chr1:246700600-246704400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:246700600-246706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:246700600-246728200	Weak transcription	Fetal Heart	heart
37	chr1:246700800-246703000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:246700800-246703600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:246700800-246703600	Weak transcription	Brain Germinal Matrix	brain
40	chr1:246700800-246703600	Weak transcription	NH-A	brain
41	chr1:246700800-246704000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:246700800-246705200	Weak transcription	HepG2	liver
43	chr1:246700800-246706600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:246701000-246704200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:246701000-246705200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:246701000-246708800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:246701200-246703000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:246701200-246703000	Weak transcription	Fetal Thymus	thymus
49	chr1:246701200-246705200	Weak transcription	Fetal Brain Female	brain
50	chr1:246701200-246705200	Weak transcription	Fetal Muscle Trunk	muscle

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