Variant report

Variant	nsv521957
Chromosome Location	chr6:73683775-73687752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73677667..73679448-chr6:73682038..73684779,2	K562	blood:
2	chr6:73676495..73679167-chr6:73681973..73685479,3	K562	blood:

Variant related genes	Relation type
ENSG00000266180	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9342991	chr6:73683775-73683776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541725798	chr6:73683804-73683805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551624279	chr6:73683834-73683835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563424484	chr6:73683835-73683836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530833828	chr6:73683843-73683844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192076588	chr6:73683870-73683871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567550765	chr6:73683904-73683905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567739735	chr6:73683967-73683968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534352056	chr6:73684052-73684053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539535812	chr6:73684079-73684080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538053010	chr6:73684108-73684109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201503571	chr6:73684109-73684110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199811414	chr6:73684122-73684123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35650798	chr6:73684168-73684169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561931222	chr6:73684210-73684211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs28497997	chr6:73684329-73684330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534811002	chr6:73684352-73684353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571027277	chr6:73684449-73684450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375100097	chr6:73684463-73684464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111405397	chr6:73684464-73684465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78321739	chr6:73684481-73684482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78584533	chr6:73684482-73684483	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571865016	chr6:73684548-73684549	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371891119	chr6:73684549-73684550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571764850	chr6:73684555-73684556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538919135	chr6:73684556-73684557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557211771	chr6:73684611-73684612	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554990043	chr6:73684616-73684617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374122098	chr6:73684618-73684619	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575568636	chr6:73684620-73684621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531108267	chr6:73684621-73684622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545553427	chr6:73684650-73684651	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373692426	chr6:73684651-73684652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573466935	chr6:73684671-73684672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188642679	chr6:73684706-73684707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554318384	chr6:73684712-73684713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368033797	chr6:73684738-73684739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577416977	chr6:73684789-73684790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150270723	chr6:73684882-73684883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572845465	chr6:73684889-73684890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181064291	chr6:73684892-73684893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539959666	chr6:73684941-73684942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565054587	chr6:73684962-73684963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562959396	chr6:73685036-73685037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532367879	chr6:73685107-73685108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76812441	chr6:73685154-73685155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184259682	chr6:73685233-73685234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561064673	chr6:73685252-73685253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190419627	chr6:73685305-73685306	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562754716	chr6:73685311-73685312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73607600-73715400	Weak transcription	Primary B cells from cord blood	blood
2	chr6:73666200-73686000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:73673000-73688000	Weak transcription	Primary T cells from cord blood	blood
4	chr6:73676600-73687000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:73679000-73685000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:73679000-73685400	Weak transcription	HSMMtube	muscle
7	chr6:73679200-73686000	Weak transcription	HSMM	muscle
8	chr6:73679600-73686200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:73681800-73687400	Enhancers	Fetal Heart	heart
10	chr6:73682800-73685000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:73682800-73687000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:73683400-73686000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:73684000-73687600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:73684200-73684400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr6:73684400-73685000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:73684600-73684800	Enhancers	Psoas Muscle	Psoas
17	chr6:73684800-73686400	Weak transcription	Psoas Muscle	Psoas
18	chr6:73685000-73687000	Enhancers	Colon Smooth Muscle	Colon
19	chr6:73685000-73687200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr6:73685000-73687600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:73685000-73687800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:73685000-73688000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:73685200-73686600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:73685200-73687400	Enhancers	GM12878-XiMat	blood
25	chr6:73685400-73686600	Enhancers	Rectal Smooth Muscle	rectum
26	chr6:73685400-73686600	Enhancers	HSMMtube	muscle
27	chr6:73686000-73687200	Enhancers	HSMM	muscle
28	chr6:73686000-73687400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:73686000-73687400	Enhancers	Brain Substantia Nigra	brain
30	chr6:73686000-73687600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:73686200-73686400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:73686200-73686600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:73686200-73686600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:73686200-73686800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:73686200-73687200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:73686200-73687200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:73686200-73687400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:73686200-73687400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:73686400-73686600	Enhancers	Psoas Muscle	Psoas
40	chr6:73686400-73687400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr6:73686600-73687000	Weak transcription	Psoas Muscle	Psoas
42	chr6:73686600-73687200	Weak transcription	HSMMtube	muscle
43	chr6:73687000-73687400	Enhancers	Primary hematopoietic stem cells	blood
44	chr6:73687000-73687400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:73687000-73687400	Enhancers	Psoas Muscle	Psoas
46	chr6:73687000-73687600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:73687000-73687600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:73687200-73687400	Enhancers	HSMMtube	muscle
49	chr6:73687400-73688400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:73687400-73690000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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