Variant report

Variant	nsv538225
Chromosome Location	chr6:54881828-54944304
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:54711220..54713010-chr6:54933243..54935932,2	MCF-7	breast:
2	chr6:54710337..54712961-chr6:54932329..54935960,4	MCF-7	breast:
3	chr6:54916479..54918840-chr6:54922959..54924642,2	K562	blood:
4	chr6:54916479..54918840-chr6:54922959..54924642,2	K562	blood:
5	chr6:54582733..54583294-chr6:54934014..54934701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168143	chromatin interactions

Extended variants
information (count: 1691 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1691 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369365153	chr6:54881871-54881872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574364528	chr6:54881875-54881876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540476991	chr6:54881883-54881884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560496254	chr6:54881884-54881885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9357828	chr6:54881912-54881913	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140341706	chr6:54881920-54881921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10948880	chr6:54882003-54882004	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs59536488	chr6:54882051-54882052	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs201723646	chr6:54882079-54882080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149920452	chr6:54882103-54882104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189247142	chr6:54882130-54882131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527529787	chr6:54882149-54882150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373570722	chr6:54882160-54882161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78265000	chr6:54882193-54882194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181992932	chr6:54882274-54882275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532939536	chr6:54882291-54882292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145764169	chr6:54882331-54882332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148948487	chr6:54882380-54882381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35272038	chr6:54882402-54882403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67500356	chr6:54882403-54882404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143665524	chr6:54882417-54882418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555442485	chr6:54882460-54882461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4256424	chr6:54882498-54882499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561065822	chr6:54882524-54882525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534317347	chr6:54882527-54882528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532730696	chr6:54882561-54882562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548302484	chr6:54882683-54882684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554028524	chr6:54882717-54882718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13217680	chr6:54882721-54882722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577146670	chr6:54882749-54882750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546104595	chr6:54882750-54882751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556244051	chr6:54882777-54882778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576388258	chr6:54882784-54882785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541956738	chr6:54882787-54882788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568038331	chr6:54882795-54882796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562252609	chr6:54882808-54882809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527469090	chr6:54882878-54882879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541257946	chr6:54882880-54882881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138254533	chr6:54882997-54882998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533226071	chr6:54883063-54883064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546869266	chr6:54883064-54883065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377038611	chr6:54883067-54883068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12662163	chr6:54883100-54883101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550056260	chr6:54883109-54883110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185048986	chr6:54883137-54883138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528928356	chr6:54883139-54883140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12055817	chr6:54883149-54883150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs141194885	chr6:54883155-54883156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534105204	chr6:54883183-54883184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145187145	chr6:54883186-54883187	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54879800-54882400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:54880400-54883200	Enhancers	Fetal Intestine Large	intestine
3	chr6:54880400-54883200	Enhancers	Fetal Lung	lung
4	chr6:54880800-54883400	Enhancers	Fetal Intestine Small	intestine
5	chr6:54881600-54882000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr6:54881600-54882000	Enhancers	Small Intestine	intestine
7	chr6:54881600-54882400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:54881600-54882600	Enhancers	Duodenum Mucosa	Duodenum
9	chr6:54881600-54883000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:54882000-54882200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:54882000-54883000	Weak transcription	Small Intestine	intestine
12	chr6:54882200-54883200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr6:54882400-54882600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:54882400-54883200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr6:54883200-54883400	Enhancers	Small Intestine	intestine
16	chr6:54883800-54887800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:54887400-54889800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:54887600-54889400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr6:54887800-54888000	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:54888000-54888400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:54888200-54888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:54888200-54889400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:54888400-54889400	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:54896200-54896800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr6:54896400-54897800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:54896800-54897000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:54896800-54897800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr6:54897000-54897400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:54897400-54898000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:54897400-54898200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:54897800-54898000	Enhancers	Primary hematopoietic stem cells	blood
32	chr6:54897800-54898400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr6:54897800-54899600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:54897800-54900600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr6:54897800-54900800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:54898000-54899000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:54898000-54900800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:54898400-54898800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr6:54898800-54900800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:54899000-54900600	Enhancers	Primary hematopoietic stem cells	blood
41	chr6:54899000-54900600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:54899600-54900600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:54900600-54904000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr6:54900800-54904200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr6:54900800-54905000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:54904000-54904400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr6:54904200-54904600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:54904200-54905600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr6:54904200-54906200	Enhancers	Osteobl	bone
50	chr6:54904400-54905400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links