Variant report

Variant	esv14011
Chromosome Location	chr1:213314571-213320124
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	chr1:213306346..213308829-chr1:213315366..213317859,2	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77684913	chr1:213314759-213314760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542984716	chr1:213314773-213314774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560719688	chr1:213314873-213314874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146554448	chr1:213314904-213314905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182650660	chr1:213314922-213314923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199887411	chr1:213314935-213314936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188853755	chr1:213314964-213314965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77857952	chr1:213314994-213314995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532853712	chr1:213315087-213315088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569948828	chr1:213315161-213315162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116627855	chr1:213315162-213315163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80242369	chr1:213315167-213315168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555684927	chr1:213315170-213315171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567863671	chr1:213315191-213315192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534974404	chr1:213315192-213315193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553117474	chr1:213315194-213315195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578035000	chr1:213315195-213315196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545556078	chr1:213315206-213315207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs191500270	chr1:213315213-213315214	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs77160089	chr1:213315337-213315338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs552318288	chr1:213315414-213315415	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12563221	chr1:213315421-213315422	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115664716	chr1:213315446-213315447	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575558995	chr1:213315451-213315452	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184195306	chr1:213315461-213315462	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60445877	chr1:213315536-213315537	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528391500	chr1:213315641-213315642	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188849161	chr1:213315750-213315751	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564756048	chr1:213315758-213315759	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532060812	chr1:213315773-213315774	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368886489	chr1:213315795-213315796	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143498071	chr1:213315829-213315830	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192373226	chr1:213315835-213315836	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183622832	chr1:213315847-213315848	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145542261	chr1:213315854-213315855	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531493369	chr1:213315870-213315871	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535038752	chr1:213315904-213315905	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546959055	chr1:213315935-213315936	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571594069	chr1:213316002-213316003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148883123	chr1:213316005-213316006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143481136	chr1:213316019-213316020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528396675	chr1:213316049-213316050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113415364	chr1:213316074-213316075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536418486	chr1:213316087-213316088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75130431	chr1:213316093-213316094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74906531	chr1:213316111-213316112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114502228	chr1:213316210-213316211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59003653	chr1:213316220-213316221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186485599	chr1:213316310-213316311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115188618	chr1:213316318-213316319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
2	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:213284200-213317200	Weak transcription	Left Ventricle	heart
4	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:213285400-213317200	Weak transcription	Fetal Kidney	kidney
6	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:213297400-213320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:213301000-213374800	Weak transcription	HSMM	muscle
11	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:213302800-213317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:213306200-213331600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:213306600-213323400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:213307200-213319200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:213309600-213315600	Weak transcription	Brain Anterior Caudate	brain
17	chr1:213309600-213329000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:213309600-213336000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:213309800-213317000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:213309800-213317200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:213309800-213319600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:213310000-213317200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:213310000-213345800	Weak transcription	Lung	lung
24	chr1:213310000-213370400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:213310400-213317200	Weak transcription	Fetal Intestine Large	intestine
26	chr1:213310400-213317600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:213310400-213333600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:213310400-213345800	Weak transcription	Ovary	ovary
29	chr1:213312000-213315800	Weak transcription	NH-A	brain
30	chr1:213312000-213340200	Weak transcription	HSMMtube	muscle
31	chr1:213312200-213340000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:213312200-213343600	Weak transcription	HepG2	liver
33	chr1:213312400-213322200	Weak transcription	Fetal Lung	lung
34	chr1:213312400-213336000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:213312600-213326800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:213312600-213327400	Weak transcription	K562	blood
37	chr1:213313000-213320600	Weak transcription	NHDF-Ad	bronchial
38	chr1:213313000-213320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:213313400-213322200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:213313800-213315600	Weak transcription	Psoas Muscle	Psoas
41	chr1:213313800-213336000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:213314000-213320200	Weak transcription	Primary B cells from cord blood	blood
43	chr1:213314600-213317400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:213314600-213319200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:213314800-213317200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:213315200-213316000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:213315400-213316000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:213315600-213315800	Enhancers	Brain Anterior Caudate	brain
49	chr1:213315600-213316000	Enhancers	Psoas Muscle	Psoas
50	chr1:213315800-213316400	Strong transcription	NH-A	brain

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