Variant report

Variant	nsv981090
Chromosome Location	chr6:164200192-164201240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164197559..164200585-chr6:164208850..164211951,4	K562	blood:
2	chr6:164200297..164203061-chr6:164227570..164230293,2	K562	blood:
3	chr6:164188709..164190897-chr6:164199271..164201440,2	K562	blood:
4	chr6:164158813..164160898-chr6:164198628..164201364,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551690647	chr6:164200245-164200246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527272411	chr6:164200270-164200271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571849666	chr6:164200273-164200274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74903811	chr6:164200305-164200306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112311315	chr6:164200348-164200349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372198481	chr6:164200357-164200358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557672636	chr6:164200374-164200375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574356414	chr6:164200464-164200465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536668241	chr6:164200484-164200485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553358756	chr6:164200541-164200542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114387500	chr6:164200542-164200543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537658951	chr6:164200630-164200631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6920091	chr6:164200631-164200632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145176285	chr6:164200658-164200659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549920022	chr6:164200687-164200688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544061016	chr6:164200696-164200697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560863950	chr6:164200697-164200698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529909419	chr6:164200777-164200778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113337576	chr6:164200791-164200792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559676818	chr6:164200835-164200836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112995147	chr6:164200892-164200893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532000209	chr6:164200931-164200932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186876644	chr6:164200967-164200968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113873660	chr6:164200976-164200977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77487283	chr6:164200992-164200993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555275199	chr6:164201052-164201053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375562511	chr6:164201059-164201060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374515546	chr6:164201176-164201177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6925383	chr6:164201185-164201186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567965110	chr6:164201226-164201227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164186000-164200600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:164186200-164203600	Weak transcription	Right Atrium	heart
3	chr6:164197200-164204400	Enhancers	Fetal Muscle Leg	muscle
4	chr6:164197400-164200600	Weak transcription	Brain Germinal Matrix	brain
5	chr6:164197600-164201400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:164197600-164201800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:164198400-164201600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:164198600-164201600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:164199400-164201600	Weak transcription	Fetal Stomach	stomach
10	chr6:164199400-164203600	Weak transcription	Left Ventricle	heart
11	chr6:164199400-164203600	Weak transcription	Right Ventricle	heart
12	chr6:164199600-164200400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:164199600-164202000	Enhancers	K562	blood
14	chr6:164199800-164200200	Weak transcription	Psoas Muscle	Psoas
15	chr6:164199800-164200200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:164199800-164200200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:164199800-164201000	Weak transcription	HSMMtube	muscle
18	chr6:164200000-164200200	Flanking Active TSS	Fetal Heart	heart
19	chr6:164200200-164200800	Enhancers	Psoas Muscle	Psoas
20	chr6:164200200-164201000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:164200200-164201000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:164200200-164202600	Enhancers	Fetal Heart	heart
23	chr6:164200400-164200800	Enhancers	Esophagus	oesophagus
24	chr6:164200400-164200800	Enhancers	Fetal Muscle Trunk	muscle
25	chr6:164200400-164201200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:164200600-164200800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:164200600-164200800	Enhancers	Brain Anterior Caudate	brain
28	chr6:164200600-164200800	Enhancers	Spleen	Spleen
29	chr6:164200600-164201000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:164200600-164201000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:164200600-164202400	Enhancers	Brain Germinal Matrix	brain
32	chr6:164200800-164201400	Weak transcription	Brain Anterior Caudate	brain
33	chr6:164200800-164201800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:164200800-164202200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:164200800-164203600	Weak transcription	Spleen	Spleen
36	chr6:164200800-164209200	Weak transcription	Psoas Muscle	Psoas
37	chr6:164201000-164201400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:164201000-164201400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr6:164201000-164201600	Enhancers	HSMMtube	muscle
40	chr6:164201000-164203400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:164201000-164204600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:164201200-164203400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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