Variant report

Variant	nsv462654
Chromosome Location	chr6:21296403-21322783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:21313757..21315920-chr6:21316264..21318006,2	K562	blood:
2	chr6:21313757..21315920-chr6:21316264..21318006,2	K562	blood:
3	chr6:21019898..21020484-chr6:21305757..21306705,2	MCF-7	breast:

Extended variants
information (count: 889 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565739157	chr6:21296403-21296404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148177986	chr6:21296431-21296432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189883067	chr6:21296432-21296433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369225002	chr6:21296472-21296473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559381681	chr6:21296512-21296513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533100372	chr6:21296548-21296549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551599188	chr6:21296690-21296691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569818885	chr6:21296760-21296761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530732120	chr6:21296780-21296781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549223459	chr6:21296832-21296833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529379641	chr6:21296834-21296835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76482901	chr6:21296839-21296840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78558500	chr6:21296849-21296850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568933129	chr6:21296851-21296852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182507368	chr6:21296874-21296875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553921262	chr6:21296901-21296902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78864883	chr6:21296968-21296969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539503553	chr6:21296998-21296999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185693465	chr6:21296999-21297000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576195552	chr6:21297002-21297003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543677976	chr6:21297008-21297009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556005203	chr6:21297015-21297016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191350328	chr6:21297027-21297028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183605865	chr6:21297048-21297049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559131574	chr6:21297083-21297084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532960162	chr6:21297141-21297142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112635899	chr6:21297168-21297169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551645426	chr6:21297192-21297193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115843353	chr6:21297205-21297206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540163263	chr6:21297217-21297218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150200741	chr6:21297241-21297242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111726103	chr6:21297266-21297267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557848391	chr6:21297306-21297307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576110772	chr6:21297342-21297343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60363223	chr6:21297351-21297352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs807843	chr6:21297367-21297368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546879247	chr6:21297375-21297376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78521533	chr6:21297460-21297461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs807844	chr6:21297486-21297487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34808563	chr6:21297489-21297490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557802404	chr6:21297576-21297577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140484267	chr6:21297592-21297593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188497588	chr6:21297605-21297606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9295504	chr6:21297606-21297607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs370158055	chr6:21297612-21297613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555723127	chr6:21297630-21297631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574272037	chr6:21297631-21297632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555898165	chr6:21297632-21297633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574230217	chr6:21297654-21297655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs33946280	chr6:21297759-21297760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:21295200-21296800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:21295200-21297000	Enhancers	Fetal Lung	lung
3	chr6:21296000-21297000	Enhancers	Adipose Nuclei	Adipose
4	chr6:21296000-21299800	Weak transcription	Ovary	ovary
5	chr6:21296200-21296800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:21296400-21298000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:21297000-21297200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:21297000-21300000	Weak transcription	Fetal Lung	lung
9	chr6:21297800-21300400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr6:21298000-21298200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:21298400-21299000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:21299800-21300200	Enhancers	Ovary	ovary
13	chr6:21300000-21300200	Enhancers	Fetal Lung	lung
14	chr6:21300000-21300400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:21303200-21305000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:21306000-21306200	Enhancers	Adipose Nuclei	Adipose
17	chr6:21306000-21306600	Enhancers	Liver	Liver
18	chr6:21306000-21306600	Enhancers	HepG2	liver
19	chr6:21306000-21307000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:21306000-21307400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:21306200-21308600	Weak transcription	Adipose Nuclei	Adipose
22	chr6:21306400-21306600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:21306600-21308600	Weak transcription	HepG2	liver
24	chr6:21306600-21310000	Weak transcription	Liver	Liver
25	chr6:21307000-21310200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:21307200-21310200	Weak transcription	Fetal Lung	lung
27	chr6:21307400-21309200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:21307600-21309000	Weak transcription	Fetal Brain Male	brain
29	chr6:21307600-21310000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:21308200-21308600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:21308200-21310000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:21308600-21309000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr6:21308600-21309400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:21308600-21309400	Enhancers	Adipose Nuclei	Adipose
35	chr6:21308600-21310000	Enhancers	HepG2	liver
36	chr6:21309000-21309200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr6:21309000-21309200	Enhancers	Fetal Brain Male	brain
38	chr6:21309000-21310000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:21309200-21309400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:21309200-21309600	Weak transcription	Fetal Brain Male	brain
41	chr6:21309200-21314600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:21309400-21309800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:21309400-21310000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:21309400-21310000	Weak transcription	Adipose Nuclei	Adipose
45	chr6:21309600-21310000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:21309600-21310600	Enhancers	Fetal Brain Male	brain
47	chr6:21309800-21310000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:21309800-21310000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:21309800-21310000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr6:21309800-21310000	Enhancers	Ovary	ovary

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