Variant report

Variant	nsv10384
Chromosome Location	chr1:95752743-95767249
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	chr1:95767185..95771086-chr1:95771320..95774034,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RWDD3-1	chr1:95752295-95752873	NONHSAT004657
2	lnc-RWDD3-1	chr1:95752179-95753228	XLOC_000307
3	lnc-RWDD3-1	chr1:95752295-95753608	NONHSAT004660
4	lnc-RWDD3-1	chr1:95752295-95753708	l_93_chr1:95748251-95753708_brain

Variant related genes	Relation type
TNRC6B	miRNA target sites

Extended variants
information (count: 334 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565249617	chr1:95752876-95752877	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs527841913	chr1:95752958-95752959	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs181764585	chr1:95752961-95752962	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs11165366	chr1:95752995-95752996	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370671626	chr1:95753098-95753099	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs186324573	chr1:95753176-95753177	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs148203296	chr1:95753193-95753194	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs548974595	chr1:95753196-95753197	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs568916066	chr1:95753200-95753201	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs12040856	chr1:95753295-95753296	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374038067	chr1:95753302-95753303	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs570331995	chr1:95753316-95753317	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs191236711	chr1:95753318-95753319	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs113892003	chr1:95753344-95753345	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs141328931	chr1:95753376-95753377	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs571454152	chr1:95753384-95753385	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs376106457	chr1:95753470-95753471	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs533959259	chr1:95753487-95753488	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs562525370	chr1:95753512-95753513	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs553720104	chr1:95753519-95753520	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs60654249	chr1:95753520-95753521	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs558103971	chr1:95753552-95753553	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs57734229	chr1:95753625-95753626	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs138096064	chr1:95753661-95753662	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs578189274	chr1:95753689-95753690	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs556129870	chr1:95753699-95753700	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs575990138	chr1:95753707-95753708	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs373675848	chr1:95753719-95753720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545008303	chr1:95753806-95753807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186746035	chr1:95753860-95753861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190871765	chr1:95753861-95753862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183423201	chr1:95753935-95753936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58638874	chr1:95753948-95753949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12089283	chr1:95753972-95753973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549139955	chr1:95753982-95753983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568981778	chr1:95753990-95753991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549263831	chr1:95754001-95754002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs650611	chr1:95754014-95754015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534410258	chr1:95754026-95754027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551416541	chr1:95754027-95754028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571504774	chr1:95754052-95754053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142519854	chr1:95754060-95754061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574048632	chr1:95754061-95754062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567388996	chr1:95754153-95754154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146001268	chr1:95754174-95754175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375416939	chr1:95754193-95754194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556195122	chr1:95754296-95754297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576153752	chr1:95754327-95754328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12087071	chr1:95754408-95754409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs17113320	chr1:95754413-95754414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95751800-95754200	Enhancers	HepG2	liver
2	chr1:95752000-95753400	Enhancers	Stomach Mucosa	stomach
3	chr1:95752200-95755000	Enhancers	Gastric	stomach
4	chr1:95752400-95755000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:95753400-95754200	Weak transcription	Stomach Mucosa	stomach
6	chr1:95754200-95754600	Enhancers	Stomach Mucosa	stomach
7	chr1:95755000-95755200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:95755400-95763800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:95756600-95756800	Enhancers	Aorta	Aorta
10	chr1:95763800-95764000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:95763800-95764000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:95763800-95764200	Active TSS	K562	blood

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