Variant report

Variant	esv3364886
Chromosome Location	chr6:54880042-54912395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1044 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1044 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565501858	chr6:54880053-54880054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138491459	chr6:54880054-54880055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551002219	chr6:54880055-54880056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386701340	chr6:54880070-54880071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9396027	chr6:54880071-54880072	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377480157	chr6:54880087-54880088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140143343	chr6:54880114-54880115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566656893	chr6:54880117-54880118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538422587	chr6:54880161-54880162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530505724	chr6:54880176-54880177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575470390	chr6:54880188-54880189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149402596	chr6:54880226-54880227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538102031	chr6:54880361-54880362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554569739	chr6:54880381-54880382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144514670	chr6:54880382-54880383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539888802	chr6:54880394-54880395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148417824	chr6:54880398-54880399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547532069	chr6:54880429-54880430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183700941	chr6:54880432-54880433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4078034	chr6:54880435-54880436	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs377747297	chr6:54880452-54880453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370034118	chr6:54880453-54880454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374115887	chr6:54880454-54880455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377683232	chr6:54880455-54880456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370356318	chr6:54880457-54880458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs33926611	chr6:54880458-54880459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59521318	chr6:54880463-54880464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13208701	chr6:54880468-54880469	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546445711	chr6:54880562-54880563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375059301	chr6:54880607-54880608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187995495	chr6:54880650-54880651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544888963	chr6:54880651-54880652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561468511	chr6:54880687-54880688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77345409	chr6:54880701-54880702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538518206	chr6:54880725-54880726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71547984	chr6:54880726-54880727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398048562	chr6:54880733-54880734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558146548	chr6:54880748-54880749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142512288	chr6:54880784-54880785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574277166	chr6:54880815-54880816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566547171	chr6:54880828-54880829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532433503	chr6:54880832-54880833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147132747	chr6:54880837-54880838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568663329	chr6:54880889-54880890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533683958	chr6:54880981-54880982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537696088	chr6:54881016-54881017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566343265	chr6:54881031-54881032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548455319	chr6:54881032-54881033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6907460	chr6:54881047-54881048	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs534116652	chr6:54881064-54881065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54877200-54881200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:54879400-54881400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:54879600-54880800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:54879600-54880800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:54879800-54882400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:54880000-54880400	Weak transcription	Fetal Intestine Large	intestine
7	chr6:54880000-54880400	Weak transcription	Fetal Lung	lung
8	chr6:54880000-54881200	Weak transcription	Fetal Stomach	stomach
9	chr6:54880000-54881400	Weak transcription	Stomach Mucosa	stomach
10	chr6:54880000-54881600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:54880400-54883200	Enhancers	Fetal Intestine Large	intestine
12	chr6:54880400-54883200	Enhancers	Fetal Lung	lung
13	chr6:54880800-54881000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr6:54880800-54883400	Enhancers	Fetal Intestine Small	intestine
15	chr6:54881000-54881200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr6:54881000-54881600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:54881200-54881600	Enhancers	Fetal Stomach	stomach
18	chr6:54881200-54881600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:54881200-54881800	Enhancers	Gastric	stomach
20	chr6:54881400-54881800	Enhancers	Stomach Mucosa	stomach
21	chr6:54881600-54882000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr6:54881600-54882000	Enhancers	Small Intestine	intestine
23	chr6:54881600-54882400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:54881600-54882600	Enhancers	Duodenum Mucosa	Duodenum
25	chr6:54881600-54883000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr6:54882000-54882200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:54882000-54883000	Weak transcription	Small Intestine	intestine
28	chr6:54882200-54883200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr6:54882400-54882600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:54882400-54883200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:54883200-54883400	Enhancers	Small Intestine	intestine
32	chr6:54883800-54887800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:54887400-54889800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:54887600-54889400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr6:54887800-54888000	Enhancers	Primary hematopoietic stem cells	blood
36	chr6:54888000-54888400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:54888200-54888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:54888200-54889400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:54888400-54889400	Enhancers	Primary hematopoietic stem cells	blood
40	chr6:54896200-54896800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr6:54896400-54897800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:54896800-54897000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:54896800-54897800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr6:54897000-54897400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:54897400-54898000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:54897400-54898200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:54897800-54898000	Enhancers	Primary hematopoietic stem cells	blood
48	chr6:54897800-54898400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr6:54897800-54899600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:54897800-54900600	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links