Variant report

Variant	nsv883473
Chromosome Location	chr6:21286834-21347410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55844241..55844973-chr6:21332465..21333118,2	Hela-S3	cervix:
2	chr6:21313757..21315920-chr6:21316264..21318006,2	K562	blood:
3	chr6:21313757..21315920-chr6:21316264..21318006,2	K562	blood:
4	chr6:21332425..21333075-chr6:21588923..21589622,2	MCF-7	breast:
5	chr6:21336228..21338674-chr6:21340550..21342231,2	K562	blood:
6	chr6:21336228..21338674-chr6:21340550..21342231,2	K562	blood:
7	chr6:21019898..21020484-chr6:21305757..21306705,2	MCF-7	breast:
8	chr6:20403168..20405515-chr6:21330909..21333657,2	K562	blood:
9	chr6:21332031..21332909-chr6:21589176..21589787,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138041	chromatin interactions
ENSG00000112242	chromatin interactions

Extended variants
information (count: 1913 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1913 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540208877	chr6:21287031-21287032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370112492	chr6:21287092-21287093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558298132	chr6:21287153-21287154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373702913	chr6:21287157-21287158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576870256	chr6:21287184-21287185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576532852	chr6:21287218-21287219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544017418	chr6:21287295-21287296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9358407	chr6:21287305-21287306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574248938	chr6:21287327-21287328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559318930	chr6:21287351-21287352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62405626	chr6:21287355-21287356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546032788	chr6:21294611-21294612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559256780	chr6:21294612-21294613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574691557	chr6:21294618-21294619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544638665	chr6:21294623-21294624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183986722	chr6:21294628-21294629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562949161	chr6:21294641-21294642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188720386	chr6:21294668-21294669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117155928	chr6:21294670-21294671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139635365	chr6:21294689-21294690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181786207	chr6:21294701-21294702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563568968	chr6:21294737-21294738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145297940	chr6:21294771-21294772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531188283	chr6:21294848-21294849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150999177	chr6:21294859-21294860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568054821	chr6:21294884-21294885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139615685	chr6:21294887-21294888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368534562	chr6:21294914-21294915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547180229	chr6:21294985-21294986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371508381	chr6:21294986-21294987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149678328	chr6:21295001-21295002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145447643	chr6:21295010-21295011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186908434	chr6:21295065-21295066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190542829	chr6:21295084-21295085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543731948	chr6:21295114-21295115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574831235	chr6:21295254-21295255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542261150	chr6:21295341-21295342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140305988	chr6:21295417-21295418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375866639	chr6:21295457-21295458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145314702	chr6:21295495-21295496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146854677	chr6:21295540-21295541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115605484	chr6:21295577-21295578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368921750	chr6:21295629-21295630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531924292	chr6:21295651-21295652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140640711	chr6:21295705-21295706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561679427	chr6:21295720-21295721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12527245	chr6:21295785-21295786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs564136438	chr6:21295853-21295854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115140993	chr6:21295946-21295947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528145528	chr6:21296018-21296019	Weak transcription Enhancers	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:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:21287000-21287200	Enhancers	Brain Germinal Matrix	brain
2	chr6:21287200-21287400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:21294600-21295200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:21295000-21295400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:21295200-21296000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:21295200-21296800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:21295200-21297000	Enhancers	Fetal Lung	lung
8	chr6:21295400-21296400	Enhancers	Fetal Stomach	stomach
9	chr6:21295600-21296000	Enhancers	Ovary	ovary
10	chr6:21295600-21296400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:21295800-21296400	Enhancers	Fetal Muscle Leg	muscle
12	chr6:21296000-21297000	Enhancers	Adipose Nuclei	Adipose
13	chr6:21296000-21299800	Weak transcription	Ovary	ovary
14	chr6:21296200-21296800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:21296400-21298000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:21297000-21297200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:21297000-21300000	Weak transcription	Fetal Lung	lung
18	chr6:21297800-21300400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr6:21298000-21298200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:21298400-21299000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:21299800-21300200	Enhancers	Ovary	ovary
22	chr6:21300000-21300200	Enhancers	Fetal Lung	lung
23	chr6:21300000-21300400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:21303200-21305000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:21306000-21306200	Enhancers	Adipose Nuclei	Adipose
26	chr6:21306000-21306600	Enhancers	Liver	Liver
27	chr6:21306000-21306600	Enhancers	HepG2	liver
28	chr6:21306000-21307000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr6:21306000-21307400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:21306200-21308600	Weak transcription	Adipose Nuclei	Adipose
31	chr6:21306400-21306600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:21306600-21308600	Weak transcription	HepG2	liver
33	chr6:21306600-21310000	Weak transcription	Liver	Liver
34	chr6:21307000-21310200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr6:21307200-21310200	Weak transcription	Fetal Lung	lung
36	chr6:21307400-21309200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:21307600-21309000	Weak transcription	Fetal Brain Male	brain
38	chr6:21307600-21310000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:21308200-21308600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:21308200-21310000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:21308600-21309000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr6:21308600-21309400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:21308600-21309400	Enhancers	Adipose Nuclei	Adipose
44	chr6:21308600-21310000	Enhancers	HepG2	liver
45	chr6:21309000-21309200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr6:21309000-21309200	Enhancers	Fetal Brain Male	brain
47	chr6:21309000-21310000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:21309200-21309400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:21309200-21309600	Weak transcription	Fetal Brain Male	brain
50	chr6:21309200-21314600	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links