Variant report

Variant	nsv1017551
Chromosome Location	chr6:110385054-110413225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:110400293..110402395-chr6:110404111..110406019,2	K562	blood:
2	chr6:110400293..110402395-chr6:110404111..110406019,2	K562	blood:
3	chr6:110397087..110399467-chr6:110408778..110410725,2	K562	blood:
4	chr6:110393980..110396773-chr6:110396779..110399595,3	K562	blood:
5	chr6:110397087..110399467-chr6:110408778..110410725,2	K562	blood:
6	chr6:110393980..110396773-chr6:110396779..110399595,3	K562	blood:

Extended variants
information (count: 950 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:950 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147948150	chr6:110385069-110385070	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs531564177	chr6:110385101-110385102	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs186879835	chr6:110385119-110385120	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs572256120	chr6:110385127-110385128	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs141883898	chr6:110385142-110385143	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs145696058	chr6:110385144-110385145	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs567845936	chr6:110385169-110385170	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs541757228	chr6:110385178-110385179	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs114708753	chr6:110385245-110385246	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs553192690	chr6:110385264-110385265	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs115161298	chr6:110385296-110385297	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs76101244	chr6:110385342-110385343	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs558945101	chr6:110385362-110385363	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs368944586	chr6:110385398-110385399	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs561995289	chr6:110385449-110385450	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs190432612	chr6:110385450-110385451	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs140137864	chr6:110385453-110385454	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs377427746	chr6:110385461-110385462	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs150310511	chr6:110385493-110385494	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs560433577	chr6:110385504-110385505	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs527532451	chr6:110385513-110385514	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs9400358	chr6:110385528-110385529	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs137987298	chr6:110385529-110385530	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs149076509	chr6:110385552-110385553	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs531615089	chr6:110385557-110385558	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs547912662	chr6:110385616-110385617	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs113412884	chr6:110385631-110385632	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs541379459	chr6:110385633-110385634	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs138700626	chr6:110385645-110385646	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs141835361	chr6:110385650-110385651	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs570506365	chr6:110385653-110385654	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs183424575	chr6:110385660-110385661	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs559224300	chr6:110385672-110385673	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs371298835	chr6:110385714-110385715	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs569476908	chr6:110385732-110385733	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs57091111	chr6:110385736-110385737	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533081215	chr6:110385740-110385741	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs555040695	chr6:110385756-110385757	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs574881610	chr6:110385768-110385769	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs540730576	chr6:110385772-110385773	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs118166157	chr6:110385841-110385842	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs576992188	chr6:110385876-110385877	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs545710650	chr6:110385881-110385882	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs9386876	chr6:110385900-110385901	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs78428489	chr6:110385914-110385915	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs574936312	chr6:110385918-110385919	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs531549959	chr6:110385919-110385920	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs535417631	chr6:110385929-110385930	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs561351358	chr6:110385963-110385964	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs527252960	chr6:110385997-110385998	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110383200-110391000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:110383800-110385200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:110383800-110385200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:110383800-110386000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr6:110383800-110386200	Enhancers	Fetal Thymus	thymus
6	chr6:110384000-110385600	Enhancers	Primary T cells from cord blood	blood
7	chr6:110384000-110385800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:110384000-110386000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:110384000-110386800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:110384000-110387600	Enhancers	Thymus	Thymus
11	chr6:110384200-110385800	Enhancers	Dnd41	blood
12	chr6:110384400-110387200	Enhancers	Primary B cells from cord blood	blood
13	chr6:110384400-110387200	Enhancers	GM12878-XiMat	blood
14	chr6:110384600-110385200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:110384600-110385200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:110384600-110387600	Enhancers	Primary B cells from peripheral blood	blood
17	chr6:110384800-110385200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:110384800-110385400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:110385200-110385400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:110385200-110389000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:110385200-110389800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:110385200-110391200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:110385400-110388600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:110385800-110386200	Bivalent Enhancer	Dnd41	blood
25	chr6:110386200-110386400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:110386200-110386400	Enhancers	Colonic Mucosa	Colon
27	chr6:110386200-110387400	Bivalent Enhancer	Fetal Thymus	thymus
28	chr6:110386400-110386800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:110386600-110386800	Enhancers	NHEK	skin
30	chr6:110386600-110387200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:110387000-110387200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:110387200-110387400	Enhancers	Brain Cingulate Gyrus	brain
33	chr6:110387400-110387600	Enhancers	Fetal Thymus	thymus
34	chr6:110387400-110388800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:110387400-110389400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:110387800-110391600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:110388200-110388400	Enhancers	Lung	lung
38	chr6:110388200-110388600	Enhancers	Fetal Muscle Trunk	muscle
39	chr6:110388400-110388600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:110388400-110388600	Enhancers	Brain Anterior Caudate	brain
41	chr6:110388400-110389000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:110388400-110389400	Enhancers	Fetal Brain Male	brain
43	chr6:110388400-110389600	Enhancers	Brain Substantia Nigra	brain
44	chr6:110388400-110391400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr6:110388600-110389600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:110388600-110389600	Weak transcription	Brain Anterior Caudate	brain
47	chr6:110388600-110389800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:110388600-110390200	Enhancers	Fetal Heart	heart
49	chr6:110388800-110389800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:110389000-110389200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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