Variant report

Variant	esv3323556
Chromosome Location	chr1:91052980-91071967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BARHL2-4	chr1:91069894-91070341	l_86_chr1:91020674-91074002_brain
2	lnc-BARHL2-4	chr1:91068508-91069880	l_86_chr1:91020674-91074002_brain
3	lnc-BARHL2-4	chr1:91069670-91070341	NONHSAT004398
4	lnc-BARHL2-4	chr1:91070014-91070341	NONHSAT004399
5	lnc-BARHL2-4	chr1:91067692-91070341	NONHSAT004397

Extended variants
information (count: 136 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572136069	chr1:91057017-91057018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536453526	chr1:91057023-91057024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143973135	chr1:91057040-91057041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576428436	chr1:91057041-91057042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544585576	chr1:91057050-91057051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182373304	chr1:91057072-91057073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111594375	chr1:91057084-91057085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144906729	chr1:91057161-91057162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187819190	chr1:91057171-91057172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112292603	chr1:91057176-91057177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191879967	chr1:91057183-91057184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184113703	chr1:91057191-91057192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187578009	chr1:91057217-91057218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149054571	chr1:91057218-91057219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs948833	chr1:91057356-91057357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538285919	chr1:91057360-91057361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547135131	chr1:91057383-91057384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565772219	chr1:91057501-91057502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536034181	chr1:91057507-91057508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554767241	chr1:91057517-91057518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192052544	chr1:91057544-91057545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142134565	chr1:91057545-91057546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151194480	chr1:91057550-91057551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185702254	chr1:91057551-91057552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578063499	chr1:91057561-91057562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545395083	chr1:91057567-91057568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190230163	chr1:91057570-91057571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529815378	chr1:91061847-91061848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564318776	chr1:91061937-91061938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7556450	chr1:91061950-91061951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149667659	chr1:91062011-91062012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568571215	chr1:91062021-91062022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369526863	chr1:91062082-91062083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529478867	chr1:91062096-91062097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551209911	chr1:91062105-91062106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12406787	chr1:91062107-91062108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs145491823	chr1:91062134-91062135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558478300	chr1:91062143-91062144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34026713	chr1:91062145-91062146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139575617	chr1:91062184-91062185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145212027	chr1:91062197-91062198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554996729	chr1:91062330-91062331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376951483	chr1:91062424-91062425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552425590	chr1:91062430-91062431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573425034	chr1:91062432-91062433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565869938	chr1:91062439-91062440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528235580	chr1:91062461-91062462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543970468	chr1:91062485-91062486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192088580	chr1:91062523-91062524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79147583	chr1:91062708-91062709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91057000-91057400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr1:91057000-91057600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:91061800-91062800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:91062800-91063200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:91070800-91071000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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