Variant report

Variant	nsv960193
Chromosome Location	chr17:16811200-16831798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16828602..16830986-chr17:16831048..16832732,2	MCF-7	breast:
2	chr17:16817372..16819591-chr17:16821854..16823935,2	MCF-7	breast:
3	chr17:16825667..16826312-chr17:16900864..16901397,2	MCF-7	breast:
4	chr17:16810205..16812865-chr17:16818453..16820548,2	MCF-7	breast:
5	chr17:16810205..16812865-chr17:16818453..16820548,2	MCF-7	breast:
6	chr17:16825314..16827941-chr17:16845624..16848889,3	MCF-7	breast:
7	chr17:16825450..16826310-chr17:16894599..16895108,2	MCF-7	breast:
8	chr17:16828602..16830986-chr17:16831048..16832732,2	MCF-7	breast:
9	chr17:16825418..16826776-chr17:16894392..16895364,7	MCF-7	breast:
10	chr17:16826192..16826763-chr17:16845300..16846108,3	MCF-7	breast:
11	chr17:16817372..16819591-chr17:16821854..16823935,2	MCF-7	breast:
12	chr17:16819016..16819930-chr17:16894369..16895346,5	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNFRSF13B-6	chr17:16820038-16821669	NONHSAT146024
2	lnc-TNFRSF13B-6	chr17:16825340-16825392	NONHSAT146024
3	lnc-TNFRSF13B-6	chr17:16824240-16824755	NONHSAT146024

No data

Extended variants
information (count: 902 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:902 , 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	rs552935030	chr17:16811229-16811230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77042656	chr17:16811233-16811234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9892059	chr17:16811242-16811243	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191673669	chr17:16811255-16811256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553798225	chr17:16811267-16811268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576781735	chr17:16811324-16811325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575701485	chr17:16811361-16811362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544469738	chr17:16811379-16811380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564747018	chr17:16811385-16811386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578244167	chr17:16811391-16811392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376182545	chr17:16811397-16811398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143256929	chr17:16811425-16811426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs878298	chr17:16811428-16811429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148297107	chr17:16811460-16811461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548975463	chr17:16811483-16811484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556782860	chr17:16811542-16811543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184138676	chr17:16811546-16811547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551267564	chr17:16811571-16811572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539277435	chr17:16811586-16811587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551604478	chr17:16811625-16811626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189385186	chr17:16811626-16811627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4791697	chr17:16811632-16811633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535441190	chr17:16811638-16811639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4274477	chr17:16811714-16811715	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143366191	chr17:16811720-16811721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114545471	chr17:16811794-16811795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374580385	chr17:16811833-16811834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111544396	chr17:16811867-16811868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4239137	chr17:16811871-16811872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545517455	chr17:16811899-16811900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35481501	chr17:16811940-16811941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560717401	chr17:16811945-16811946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574318843	chr17:16811953-16811954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542257591	chr17:16811976-16811977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562533329	chr17:16811977-16811978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560192889	chr17:16812032-16812033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531291508	chr17:16812053-16812054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551423495	chr17:16812092-16812093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564661856	chr17:16812094-16812095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117322522	chr17:16812136-16812137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147537471	chr17:16812154-16812155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528282489	chr17:16812162-16812163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552512604	chr17:16812175-16812176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567213847	chr17:16812185-16812186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140148957	chr17:16812193-16812194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549083953	chr17:16812375-16812376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569265930	chr17:16812384-16812385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537865317	chr17:16812413-16812414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558252298	chr17:16812422-16812423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571769556	chr17:16812475-16812476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:160)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16804400-16814200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:16807400-16813200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:16807600-16812600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:16808200-16812400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr17:16809200-16814200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:16810000-16814800	Enhancers	Primary T cells from cord blood	blood
7	chr17:16810200-16816400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr17:16810400-16811200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr17:16810400-16811200	Enhancers	NH-A	brain
10	chr17:16810400-16812600	Weak transcription	HSMMtube	muscle
11	chr17:16810400-16815000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:16810600-16812000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr17:16810600-16816200	Enhancers	Fetal Thymus	thymus
14	chr17:16810800-16811800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr17:16810800-16812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:16810800-16812800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:16811000-16812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:16811800-16816200	Enhancers	Fetal Muscle Leg	muscle
19	chr17:16811800-16816600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr17:16812000-16812200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:16812000-16814400	Enhancers	Fetal Muscle Trunk	muscle
22	chr17:16812000-16816400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr17:16812000-16816400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr17:16812200-16812600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:16812400-16812600	Enhancers	Dnd41	blood
26	chr17:16812400-16813000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr17:16812400-16814800	Enhancers	HUVEC	blood vessel
28	chr17:16812600-16812800	Enhancers	HSMMtube	muscle
29	chr17:16812600-16813200	Enhancers	Placenta	Placenta
30	chr17:16812600-16813400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr17:16812600-16815000	Weak transcription	Dnd41	blood
32	chr17:16812600-16816200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr17:16812800-16813000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:16812800-16813000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr17:16812800-16816200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr17:16813000-16813200	Enhancers	Fetal Heart	heart
37	chr17:16813000-16813400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr17:16813000-16813400	Bivalent Enhancer	Fetal Stomach	stomach
39	chr17:16813200-16813400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:16813200-16813800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:16813400-16813600	Enhancers	Primary hematopoietic stem cells	blood
42	chr17:16813400-16813800	Enhancers	Primary B cells from peripheral blood	blood
43	chr17:16813400-16814800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr17:16813400-16816000	Enhancers	Primary B cells from cord blood	blood
45	chr17:16813600-16814600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr17:16813800-16814200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:16813800-16816200	Enhancers	Brain Hippocampus Middle	brain
48	chr17:16814200-16814600	Bivalent Enhancer	Fetal Stomach	stomach
49	chr17:16814200-16814600	Enhancers	Spleen	Spleen
50	chr17:16814200-16814800	Bivalent Enhancer	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links