Variant report

Variant	nsv7972
Chromosome Location	chr6:143905304-143911787
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:143899013..143902329-chr6:143903736..143905850,3	K562	blood:
2	chr6:143903484..143905278-chr6:143906828..143909532,2	MCF-7	breast:
3	chr6:143903236..143905601-chr6:143907118..143909608,2	K562	blood:
4	chr6:143897560..143900872-chr6:143902459..143905862,4	K562	blood:
5	chr6:143903236..143905601-chr6:143907118..143909608,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FUCA2-1	chr6:143909316-143909643	NONHSAT115358

No data

Extended variants
information (count: 255 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569040317	chr6:143905304-143905305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560359164	chr6:143905335-143905336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527492352	chr6:143905352-143905353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192692826	chr6:143905375-143905376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141000237	chr6:143905376-143905377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9376766	chr6:143905403-143905404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116236271	chr6:143905408-143905409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374114744	chr6:143905427-143905428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115126177	chr6:143905431-143905432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531661563	chr6:143905448-143905449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367905787	chr6:143905449-143905450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184501089	chr6:143905524-143905525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189207696	chr6:143905536-143905537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551365497	chr6:143905550-143905551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115881858	chr6:143905573-143905574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59682731	chr6:143905575-143905576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113097718	chr6:143905594-143905595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111361081	chr6:143905747-143905748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6924422	chr6:143905770-143905771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181208614	chr6:143905800-143905801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112045294	chr6:143905810-143905811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373413774	chr6:143905827-143905828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78332831	chr6:143905842-143905843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150228784	chr6:143905896-143905897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6924719	chr6:143905897-143905898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560189600	chr6:143905930-143905931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527624479	chr6:143905993-143905994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73001515	chr6:143906000-143906001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550234691	chr6:143906012-143906013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373999709	chr6:143906016-143906017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184790866	chr6:143906062-143906063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149307923	chr6:143906065-143906066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146230676	chr6:143906101-143906102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374320357	chr6:143906118-143906119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572182166	chr6:143906119-143906120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541933990	chr6:143906132-143906133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34747367	chr6:143906134-143906135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6924940	chr6:143906183-143906184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189652780	chr6:143906228-143906229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6924967	chr6:143906235-143906236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs180719250	chr6:143906236-143906237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9484775	chr6:143906264-143906265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79489282	chr6:143906265-143906266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576641729	chr6:143906282-143906283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11155305	chr6:143906322-143906323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs9484776	chr6:143906325-143906326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555994343	chr6:143906330-143906331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10782290	chr6:143906340-143906341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs117929625	chr6:143906341-143906342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377440652	chr6:143906353-143906354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	22495311	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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143894400-143907600	Weak transcription	Stomach Mucosa	stomach
2	chr6:143895600-143918200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:143897600-143907600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:143899400-143918000	Weak transcription	Spleen	Spleen
5	chr6:143899800-143919200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr6:143900400-143907000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:143900800-143918200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:143901000-143907400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:143901200-143918000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:143901400-143906200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:143903200-143912600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:143903400-143905800	Weak transcription	Fetal Intestine Small	intestine
13	chr6:143903400-143911800	Weak transcription	Fetal Intestine Large	intestine
14	chr6:143903400-143918200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:143903600-143907600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:143903600-143912200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:143903600-143918600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:143903800-143905400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:143904200-143905600	Enhancers	Placenta	Placenta
20	chr6:143904400-143905800	Enhancers	NHDF-Ad	bronchial
21	chr6:143904400-143908000	Enhancers	Fetal Muscle Leg	muscle
22	chr6:143904600-143905600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:143904600-143906000	Enhancers	NHLF	lung
24	chr6:143904600-143908000	Enhancers	Fetal Stomach	stomach
25	chr6:143904800-143905600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:143904800-143905600	Enhancers	NH-A	brain
27	chr6:143904800-143905600	Enhancers	Osteobl	bone
28	chr6:143904800-143906600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:143904800-143906600	Enhancers	Fetal Lung	lung
30	chr6:143905000-143905600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:143905000-143907600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:143905400-143906400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:143905600-143906400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:143905600-143911400	Weak transcription	Placenta	Placenta
35	chr6:143905600-143915600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:143905800-143906000	Enhancers	Fetal Intestine Small	intestine
37	chr6:143906000-143906400	Weak transcription	Fetal Intestine Small	intestine
38	chr6:143906200-143906600	Enhancers	Gastric	stomach
39	chr6:143906200-143907000	Enhancers	Fetal Muscle Trunk	muscle
40	chr6:143906400-143906600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:143906400-143907000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:143906400-143907000	Enhancers	Fetal Intestine Small	intestine
43	chr6:143906600-143907600	Weak transcription	Fetal Lung	lung
44	chr6:143906600-143915400	Weak transcription	Gastric	stomach
45	chr6:143907000-143907800	Weak transcription	Fetal Intestine Small	intestine
46	chr6:143907000-143911400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:143907600-143907800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr6:143907600-143907800	Enhancers	Fetal Lung	lung
49	chr6:143907600-143907800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr6:143907600-143907800	Enhancers	Sigmoid Colon	Sigmoid Colon

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