Variant report

Variant	nsv886571
Chromosome Location	chr6:119494199-119517239
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119494035..119497097-chr6:119497840..119499702,3	K562	blood:
2	chr6:119494532..119497105-chr6:119519039..119521692,2	K562	blood:
3	chr6:119511695..119514297-chr6:119634255..119636425,2	K562	blood:
4	chr6:119506358..119507997-chr6:119521018..119522691,2	MCF-7	breast:
5	chr6:119510956..119512728-chr6:119517254..119518808,2	MCF-7	breast:
6	chr6:119492255..119493847-chr6:119498446..119501102,2	K562	blood:
7	chr6:119495135..119497259-chr6:119500110..119502999,2	MCF-7	breast:
8	chr6:119495580..119498090-chr6:119500296..119504744,4	K562	blood:
9	chr6:119476078..119477626-chr6:119493274..119495508,2	K562	blood:
10	chr6:119509157..119512437-chr6:119515182..119517174,3	MCF-7	breast:
11	chr6:119509157..119512437-chr6:119515182..119517174,3	MCF-7	breast:
12	chr6:119493505..119495006-chr6:119566194..119568932,2	K562	blood:
13	chr6:119494035..119497097-chr6:119497840..119499702,3	K562	blood:
14	chr6:119506495..119510474-chr6:119512105..119518415,7	K562	blood:
15	chr6:119484958..119487495-chr6:119493073..119495556,3	K562	blood:
16	chr6:119495580..119498090-chr6:119500296..119504744,4	K562	blood:
17	chr6:119503709..119505981-chr6:119506117..119508787,2	MCF-7	breast:
18	chr6:119503709..119505981-chr6:119506117..119508787,2	MCF-7	breast:
19	chr6:119486235..119488127-chr6:119499156..119501028,2	K562	blood:
20	chr6:119495135..119497259-chr6:119500110..119502999,2	MCF-7	breast:
21	chr6:119506495..119510474-chr6:119512105..119518415,7	K562	blood:
22	chr6:119492223..119493755-chr6:119497379..119499946,2	K562	blood:
23	chr6:119450148..119450818-chr6:119497290..119498263,2	K562	blood:

No data

Extended variants
information (count: 964 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:964 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4140634	chr6:119494199-119494200	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545283128	chr6:119494252-119494253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180862555	chr6:119494285-119494286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527464594	chr6:119494374-119494375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547212357	chr6:119494463-119494464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186389401	chr6:119494470-119494471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6936120	chr6:119494524-119494525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371835110	chr6:119494541-119494542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140162960	chr6:119494562-119494563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538699380	chr6:119494574-119494575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80189270	chr6:119494604-119494605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566274037	chr6:119494647-119494648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189658565	chr6:119494671-119494672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150327187	chr6:119494727-119494728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376693867	chr6:119494728-119494729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569784065	chr6:119494734-119494735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35640625	chr6:119494748-119494749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138247227	chr6:119494756-119494757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143990462	chr6:119494761-119494762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11962801	chr6:119494788-119494789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75261058	chr6:119494815-119494816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565160173	chr6:119494819-119494820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377049844	chr6:119494853-119494854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181800855	chr6:119494985-119494986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185949991	chr6:119495041-119495042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569840445	chr6:119495079-119495080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545805224	chr6:119495082-119495083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560752493	chr6:119495086-119495087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537116516	chr6:119495087-119495088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190572200	chr6:119495135-119495136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562610782	chr6:119495136-119495137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558612221	chr6:119495144-119495145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570088838	chr6:119495186-119495187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532519000	chr6:119495205-119495206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532098346	chr6:119495243-119495244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183503584	chr6:119495247-119495248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571137020	chr6:119495253-119495254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566326334	chr6:119495263-119495264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551870347	chr6:119495264-119495265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186426094	chr6:119495312-119495313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535286934	chr6:119495321-119495322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538825041	chr6:119495381-119495382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553822376	chr6:119495399-119495400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556208176	chr6:119495437-119495438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549198903	chr6:119495453-119495454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538594657	chr6:119495505-119495506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190004827	chr6:119495509-119495510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116464712	chr6:119495511-119495512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540924327	chr6:119495520-119495521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560892222	chr6:119495521-119495522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119484800-119499400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:119491200-119494600	Enhancers	K562	blood
3	chr6:119491200-119495400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:119491200-119495600	Enhancers	Fetal Lung	lung
5	chr6:119491800-119496800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:119491800-119500400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:119491800-119501000	Weak transcription	Fetal Intestine Large	intestine
8	chr6:119491800-119531200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:119492000-119494400	Weak transcription	Adipose Nuclei	Adipose
10	chr6:119492000-119494400	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:119492000-119507200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:119492200-119505400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:119492200-119527800	Weak transcription	NHEK	skin
14	chr6:119492400-119494800	Weak transcription	Stomach Mucosa	stomach
15	chr6:119492400-119494800	Enhancers	NHDF-Ad	bronchial
16	chr6:119492400-119498200	Weak transcription	Liver	Liver
17	chr6:119492400-119524200	Weak transcription	Fetal Stomach	stomach
18	chr6:119492600-119498200	Enhancers	HepG2	liver
19	chr6:119492600-119498600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:119492600-119500400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:119492600-119505600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:119492800-119494400	Weak transcription	Fetal Heart	heart
23	chr6:119493200-119495200	Enhancers	Hela-S3	cervix
24	chr6:119493400-119494200	Enhancers	NHLF	lung
25	chr6:119493400-119496400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:119493400-119500400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:119493600-119494600	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:119493600-119518000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:119494000-119494800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:119494000-119495600	Enhancers	Fetal Kidney	kidney
31	chr6:119494000-119523600	Weak transcription	GM12878-XiMat	blood
32	chr6:119494200-119494400	Enhancers	Stomach Smooth Muscle	stomach
33	chr6:119494200-119496400	Weak transcription	NHLF	lung
34	chr6:119494400-119494600	Enhancers	Esophagus	oesophagus
35	chr6:119494400-119494800	Enhancers	Fetal Muscle Leg	muscle
36	chr6:119494400-119495000	Enhancers	Adipose Nuclei	Adipose
37	chr6:119494400-119495200	Enhancers	Pancreas	Pancrea
38	chr6:119494400-119495800	Enhancers	Fetal Heart	heart
39	chr6:119494400-119501000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:119494600-119494800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:119494600-119494800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:119494600-119495400	Enhancers	Colon Smooth Muscle	Colon
43	chr6:119494600-119498600	Weak transcription	K562	blood
44	chr6:119494600-119547400	Weak transcription	Esophagus	oesophagus
45	chr6:119494800-119495000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr6:119494800-119495200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:119494800-119495200	Enhancers	Stomach Mucosa	stomach
48	chr6:119494800-119496400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:119494800-119496800	Weak transcription	NHDF-Ad	bronchial
50	chr6:119494800-119501000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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