Variant report

Variant	nsv1024404
Chromosome Location	chr6:44996714-45039419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45008781..45011238-chr6:45015698..45018079,2	MCF-7	breast:
2	chr6:44996729..44999425-chr6:45119837..45121459,2	K562	blood:
3	chr6:45008781..45011238-chr6:45015698..45018079,2	MCF-7	breast:
4	chr6:45003285..45005012-chr6:45007518..45010080,2	K562	blood:
5	chr6:45003285..45005012-chr6:45007518..45010080,2	K562	blood:
6	chr6:45038976..45040613-chr6:45043879..45046271,2	K562	blood:
7	chr12:48357281..48357866-chr6:45012051..45012551,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000134291	chromatin interactions

Extended variants
information (count: 1329 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1329 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537079257	chr6:44996753-44996754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76560254	chr6:44996765-44996766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574297912	chr6:44996810-44996811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535316932	chr6:44996824-44996825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191158995	chr6:44996895-44996896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34458572	chr6:44996919-44996920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80076656	chr6:44996934-44996935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554420515	chr6:44996957-44996958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73737836	chr6:44996964-44996965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574567250	chr6:44997018-44997019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140292645	chr6:44997080-44997081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139480192	chr6:44997088-44997089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57910541	chr6:44997098-44997099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76278307	chr6:44997126-44997127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200130596	chr6:44997140-44997141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373892976	chr6:44997156-44997157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151084624	chr6:44997177-44997178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561722323	chr6:44997206-44997207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529216879	chr6:44997208-44997209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112252485	chr6:44997235-44997236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547680290	chr6:44997307-44997308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559178920	chr6:44997395-44997396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114368250	chr6:44997504-44997505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545783401	chr6:44997525-44997526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141016658	chr6:44997676-44997677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569840818	chr6:44997728-44997729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377144669	chr6:44997736-44997737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113922827	chr6:44997760-44997761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368526411	chr6:44997767-44997768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528735118	chr6:44997769-44997770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192966900	chr6:44997824-44997825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556852664	chr6:44997895-44997896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546776369	chr6:44997926-44997927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567659124	chr6:44997932-44997933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534663794	chr6:44997944-44997945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75852426	chr6:44997964-44997965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185151413	chr6:44998011-44998012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539270929	chr6:44998025-44998026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6925467	chr6:44998038-44998039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs576251828	chr6:44998116-44998117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190399881	chr6:44998140-44998141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531115667	chr6:44998156-44998157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555131310	chr6:44998167-44998168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146790589	chr6:44998176-44998177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140462207	chr6:44998184-44998185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559255021	chr6:44998240-44998241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554424221	chr6:44998276-44998277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111276299	chr6:44998385-44998386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377255691	chr6:44998436-44998437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544849428	chr6:44998440-44998441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44974800-45004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:44995200-44999600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:44995200-45004400	Weak transcription	Aorta	Aorta
4	chr6:44995600-44999200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:44995600-44999200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr6:44999200-45000000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr6:44999200-45001000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:44999400-45000800	Enhancers	Fetal Intestine Large	intestine
9	chr6:44999600-45000800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:45000400-45000800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr6:45000800-45003800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:45001000-45001400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr6:45001400-45002000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr6:45002000-45003800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:45003800-45004200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:45003800-45004200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr6:45007800-45009200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:45011200-45012600	Enhancers	HepG2	liver
19	chr6:45011600-45012200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:45011800-45012200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:45011800-45012600	Enhancers	Fetal Intestine Large	intestine
22	chr6:45012000-45012200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:45012000-45013800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:45012200-45017000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:45012200-45022000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:45012600-45016800	Weak transcription	HepG2	liver
27	chr6:45013800-45020000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:45016400-45018000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:45016400-45019200	Enhancers	Dnd41	blood
30	chr6:45016400-45019600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:45016600-45017600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:45016600-45017600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:45016600-45017600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:45016600-45018600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:45016600-45019000	Enhancers	HUVEC	blood vessel
36	chr6:45016800-45017400	Enhancers	Primary B cells from peripheral blood	blood
37	chr6:45016800-45017600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr6:45016800-45017600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:45016800-45018000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:45016800-45018200	Enhancers	Primary T cells from cord blood	blood
41	chr6:45016800-45018200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:45016800-45018200	Enhancers	HepG2	liver
43	chr6:45016800-45018200	Enhancers	K562	blood
44	chr6:45016800-45018600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:45016800-45019000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:45017000-45017200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr6:45017000-45017400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:45017000-45017400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr6:45017000-45017400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:45017000-45017400	Enhancers	Primary neutrophils fromperipheralblood	blood

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