Variant report

Variant	nsv517238
Chromosome Location	chr17:16821625-16824504
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	chr17:16817372..16819591-chr17:16821854..16823935,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNFRSF13B-6	chr17:16820038-16821669	NONHSAT146024
2	lnc-TNFRSF13B-6	chr17:16824240-16824755	NONHSAT146024

Extended variants
information (count: 107 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4239138	chr17:16821625-16821626	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183876285	chr17:16821711-16821712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537036641	chr17:16821734-16821735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370693140	chr17:16821802-16821803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11078353	chr17:16821803-16821804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570843484	chr17:16821850-16821851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539887916	chr17:16821851-16821852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553213653	chr17:16821906-16821907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573342507	chr17:16821923-16821924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542069432	chr17:16821931-16821932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556088175	chr17:16821932-16821933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189331408	chr17:16821992-16821993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377716543	chr17:16821998-16821999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12603506	chr17:16821999-16822000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3764409	chr17:16822061-16822062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs564103061	chr17:16822072-16822073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143858128	chr17:16822081-16822082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71152830	chr17:16822173-16822174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373223076	chr17:16822196-16822197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11657862	chr17:16822228-16822229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570599650	chr17:16822239-16822240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559994542	chr17:16822242-16822243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529042974	chr17:16822279-16822280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548804767	chr17:16822373-16822374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371603415	chr17:16822381-16822382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148698217	chr17:16822437-16822438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368885235	chr17:16822506-16822507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141333175	chr17:16822522-16822523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181953782	chr17:16822552-16822553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376312780	chr17:16822554-16822555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147415445	chr17:16822626-16822627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539453778	chr17:16822627-16822628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139661390	chr17:16822649-16822650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556921196	chr17:16822652-16822653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566895224	chr17:16822692-16822693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569653416	chr17:16822695-16822696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9910170	chr17:16822732-16822733	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184989643	chr17:16822772-16822773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75138789	chr17:16822783-16822784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190429574	chr17:16822802-16822803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558185920	chr17:16822815-16822816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181249526	chr17:16822818-16822819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543161235	chr17:16822865-16822866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539856957	chr17:16822911-16822912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560182359	chr17:16822927-16822928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529025347	chr17:16822955-16822956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112033299	chr17:16822990-16822991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542399718	chr17:16823047-16823048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186714656	chr17:16823083-16823084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531424698	chr17:16823212-16823213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:158)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16816200-16824000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:16819400-16823400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:16819400-16826200	Weak transcription	Pancreas	Pancrea
4	chr17:16819800-16821800	Enhancers	Fetal Lung	lung
5	chr17:16819800-16831600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr17:16820000-16830800	Weak transcription	GM12878-XiMat	blood
7	chr17:16820600-16823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:16820800-16822000	Enhancers	Fetal Stomach	stomach
9	chr17:16821400-16821800	Enhancers	Lung	lung
10	chr17:16821400-16822000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:16821600-16822000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:16821800-16822600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr17:16821800-16823000	Weak transcription	Lung	lung
14	chr17:16821800-16826200	Weak transcription	Fetal Lung	lung
15	chr17:16822000-16827800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:16822600-16823800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr17:16823200-16823400	Enhancers	Lung	lung
18	chr17:16823200-16824200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr17:16823200-16824200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:16823400-16823800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr17:16823400-16824200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:16823600-16824400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr17:16823800-16825600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr17:16824000-16825200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:16824200-16825400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:16824200-16827800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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