Variant report

Variant	nsv521024
Chromosome Location	chr5:73967964-73969058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:73956419..73958700-chr5:73966075..73968890,2	K562	blood:
2	chr5:73968225..73971112-chr5:73973488..73976087,2	K562	blood:
3	chr5:73968444..73969362-chr5:74215054..74216242,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ENC1-6	chr5:73968546-73969333	expReg_chr5_3568_-

Extended variants
information (count: 38 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs820844	chr5:73967964-73967965	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183767027	chr5:73967969-73967970	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560434650	chr5:73968016-73968017	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs188099450	chr5:73968038-73968039	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181950358	chr5:73968039-73968040	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs527797176	chr5:73968080-73968081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552656392	chr5:73968081-73968082	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs202026304	chr5:73968154-73968155	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374536393	chr5:73968214-73968215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532763387	chr5:73968222-73968223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531699480	chr5:73968290-73968291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549863010	chr5:73968292-73968293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113831529	chr5:73968305-73968306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73115193	chr5:73968339-73968340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142158397	chr5:73968393-73968394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553538332	chr5:73968397-73968398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565494189	chr5:73968410-73968411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539148371	chr5:73968425-73968426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548600120	chr5:73968453-73968454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151075565	chr5:73968459-73968460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs820843	chr5:73968469-73968470	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543388374	chr5:73968494-73968495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556606734	chr5:73968549-73968550	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs575074119	chr5:73968609-73968610	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs542118279	chr5:73968662-73968663	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs74458037	chr5:73968731-73968732	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs185551836	chr5:73968747-73968748	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs35317043	chr5:73968826-73968827	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs398109048	chr5:73968835-73968836	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs546335764	chr5:73968902-73968903	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs141293285	chr5:73968917-73968918	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs11747100	chr5:73968934-73968935	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs111879432	chr5:73968975-73968976	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs534897239	chr5:73968978-73968979	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs190078426	chr5:73968998-73968999	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs547239139	chr5:73969001-73969002	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs144995909	chr5:73969031-73969032	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs16872173	chr5:73969058-73969059	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73948600-73971400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:73956400-73969000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:73962400-73969000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:73962600-73969200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:73963600-73968600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:73963800-73969000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:73964200-73968400	Weak transcription	HSMMtube	muscle
8	chr5:73966200-73969000	Weak transcription	Hela-S3	cervix
9	chr5:73966600-73968800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:73966600-73969200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:73966600-73969200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:73966600-73974600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:73966800-73968000	Weak transcription	Left Ventricle	heart
14	chr5:73966800-73968200	Weak transcription	Pancreas	Pancrea
15	chr5:73966800-73968200	Weak transcription	Right Atrium	heart
16	chr5:73966800-73969000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:73966800-73969200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:73966800-73980200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:73966800-73980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:73967000-73968200	Weak transcription	Fetal Stomach	stomach
21	chr5:73967200-73968200	Flanking Active TSS	Fetal Heart	heart
22	chr5:73967200-73968600	Weak transcription	HepG2	liver
23	chr5:73967400-73969000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:73967600-73968600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:73967600-73969400	Enhancers	Right Ventricle	heart
26	chr5:73967800-73968600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:73967800-73969400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:73968000-73968200	Enhancers	Fetal Brain Female	brain
29	chr5:73968000-73969000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:73968000-73969200	Enhancers	Left Ventricle	heart
31	chr5:73968200-73968400	Enhancers	Aorta	Aorta
32	chr5:73968200-73968400	Enhancers	Brain Anterior Caudate	brain
33	chr5:73968200-73968400	Enhancers	Pancreas	Pancrea
34	chr5:73968200-73968400	Enhancers	Right Atrium	heart
35	chr5:73968200-73969000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:73968200-73969000	Enhancers	Brain Hippocampus Middle	brain
37	chr5:73968200-73969000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:73968200-73969000	Weak transcription	Fetal Brain Female	brain
39	chr5:73968200-73969000	Enhancers	Stomach Smooth Muscle	stomach
40	chr5:73968200-73969400	Enhancers	Fetal Stomach	stomach
41	chr5:73968200-73969800	Enhancers	Fetal Heart	heart
42	chr5:73968400-73968800	Weak transcription	Pancreas	Pancrea
43	chr5:73968400-73969000	Enhancers	Rectal Smooth Muscle	rectum
44	chr5:73968400-73969000	Weak transcription	Right Atrium	heart
45	chr5:73968400-73969000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr5:73968400-73969000	Enhancers	HSMMtube	muscle
47	chr5:73968400-73969800	Enhancers	Fetal Brain Male	brain
48	chr5:73968600-73969000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:73968600-73969000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:73968600-73969000	Enhancers	Liver	Liver

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