Variant report

Variant	nsv970681
Chromosome Location	chr6:54122023-54128223
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 216 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565297729	chr6:54122027-54122028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373992443	chr6:54122080-54122081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376077576	chr6:54122100-54122101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150808327	chr6:54122115-54122116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371102271	chr6:54122120-54122121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374190735	chr6:54122136-54122137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368517718	chr6:54122137-54122138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527647262	chr6:54122138-54122139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563226328	chr6:54122143-54122144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559229435	chr6:54122148-54122149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576031864	chr6:54122168-54122169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186664446	chr6:54122175-54122176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561477778	chr6:54122218-54122219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139505989	chr6:54122253-54122254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191473473	chr6:54122394-54122395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372568710	chr6:54122430-54122431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559884648	chr6:54122466-54122467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532169045	chr6:54122487-54122488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552167152	chr6:54122497-54122498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561273432	chr6:54122547-54122548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183987588	chr6:54122593-54122594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530201537	chr6:54122597-54122598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188867124	chr6:54122611-54122612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567960249	chr6:54122675-54122676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536337238	chr6:54122712-54122713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547103303	chr6:54122783-54122784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566728834	chr6:54122838-54122839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114055583	chr6:54122857-54122858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181805255	chr6:54122873-54122874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185307702	chr6:54122879-54122880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376898015	chr6:54122904-54122905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531735971	chr6:54122930-54122931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372675556	chr6:54123074-54123075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538544858	chr6:54123091-54123092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549744102	chr6:54123101-54123102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555198091	chr6:54123117-54123118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7741347	chr6:54123118-54123119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs535327164	chr6:54123178-54123179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539937402	chr6:54123240-54123241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560222647	chr6:54123248-54123249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538567946	chr6:54123307-54123308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373501314	chr6:54123370-54123371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576879576	chr6:54123375-54123376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545742740	chr6:54123394-54123395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562147803	chr6:54123407-54123408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552017037	chr6:54123421-54123422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541759320	chr6:54123430-54123431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561526811	chr6:54123457-54123458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79843207	chr6:54123476-54123477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190323053	chr6:54123501-54123502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Hodgkin''s lymphoma	17606441	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
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
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54121000-54122600	Enhancers	Right Ventricle	heart
2	chr6:54121200-54124400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:54121200-54124600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:54121400-54131200	Weak transcription	Left Ventricle	heart
5	chr6:54121400-54131400	Weak transcription	Psoas Muscle	Psoas
6	chr6:54121800-54122600	Enhancers	Fetal Heart	heart
7	chr6:54121800-54124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:54121800-54131400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:54122600-54129800	Weak transcription	Fetal Heart	heart
10	chr6:54122800-54123000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:54123400-54123600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:54124200-54124400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:54124200-54124600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:54124400-54124800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:54124400-54126000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:54124400-54126000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:54124400-54127000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:54124600-54125800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:54124600-54125800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr6:54124600-54126000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:54124800-54125200	Enhancers	Osteobl	bone
22	chr6:54124800-54129200	Enhancers	Fetal Intestine Large	intestine
23	chr6:54125200-54125800	Active TSS	Osteobl	bone
24	chr6:54125400-54125600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:54125600-54126000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr6:54125600-54126200	Enhancers	Fetal Intestine Small	intestine
27	chr6:54125800-54128600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:54126000-54126200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:54126000-54126400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:54126000-54127000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:54126000-54128600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:54126000-54129200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:54126200-54127000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:54126200-54127600	Weak transcription	Fetal Intestine Small	intestine
35	chr6:54126400-54126800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:54126800-54127200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:54126800-54127200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:54126800-54128200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:54126800-54128400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:54126800-54129000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr6:54127000-54127400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:54127000-54128000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr6:54127000-54128600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:54127200-54127600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr6:54127200-54127600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr6:54127600-54128400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr6:54127600-54128400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:54127600-54129000	Enhancers	Fetal Intestine Small	intestine
49	chr6:54128000-54128800	Enhancers	HUES48 Cell Line	embryonic stem cell

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