Variant report

Variant	nsv1032759
Chromosome Location	chr5:2044117-2091631
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:11)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1798541..1800766-chr5:2072039..2074482,2	MCF-7	breast:
2	chr5:2041732..2043505-chr5:2044212..2047095,2	K562	blood:
3	chr5:2038885..2040468-chr5:2043552..2045148,2	K562	blood:
4	chr21:27010354..27011260-chr5:2084826..2085485,2	MCF-7	breast:
5	chr5:2047496..2049550-chr5:2053975..2055514,2	MCF-7	breast:
6	chr5:2038968..2041290-chr5:2043648..2046348,2	K562	blood:
7	chr5:1976483..1978834-chr5:2046754..2049581,2	MCF-7	breast:
8	chr5:2054218..2056491-chr5:2059261..2061663,2	K562	blood:
9	chr5:2086623..2089378-chr5:2750285..2752647,2	MCF-7	breast:
10	chr5:2054218..2056491-chr5:2059261..2061663,2	K562	blood:
11	chr5:2047496..2049550-chr5:2053975..2055514,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFS6-5	chr5:2066640-2067530	XLOC_004250
2	lnc-NDUFS6-7	chr5:2069258-2069531	XLOC_004252
3	lnc-NDUFS6-7	chr5:2069055-2069085	XLOC_004252

No data

Variant related genes	Relation type
ENSG00000170561	chromatin interactions
ENSG00000186493	chromatin interactions
ENSG00000171421	chromatin interactions

Extended variants
information (count: 1831 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:1831 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568212779	chr5:2044244-2044245	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560264835	chr5:2044287-2044288	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13355718	chr5:2044289-2044290	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550549555	chr5:2044331-2044332	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569111628	chr5:2044335-2044336	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539388494	chr5:2044339-2044340	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527731122	chr5:2044340-2044341	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570780346	chr5:2044377-2044378	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534751003	chr5:2044393-2044394	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549056645	chr5:2044431-2044432	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553057780	chr5:2044444-2044445	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs181310070	chr5:2044448-2044449	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs542012604	chr5:2044456-2044457	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs144946070	chr5:2044497-2044498	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575878110	chr5:2044507-2044508	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs567378300	chr5:2044574-2044575	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs564079699	chr5:2044594-2044595	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs555696064	chr5:2044605-2044606	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540272596	chr5:2044609-2044610	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561764402	chr5:2044668-2044669	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529026486	chr5:2044687-2044688	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs186370594	chr5:2044730-2044731	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs550331480	chr5:2044731-2044732	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568975155	chr5:2044767-2044768	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs75375251	chr5:2044790-2044791	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140429277	chr5:2044816-2044817	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs190871142	chr5:2044827-2044828	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570474368	chr5:2044853-2044854	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs534685977	chr5:2044904-2044905	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs375065339	chr5:2044924-2044925	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs13187176	chr5:2044935-2044936	Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs535607203	chr5:2044941-2044942	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200653482	chr5:2044956-2044957	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs371381770	chr5:2044992-2044993	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557495103	chr5:2044996-2044997	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs182628314	chr5:2045006-2045007	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs564546060	chr5:2045022-2045023	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs575770086	chr5:2045037-2045038	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76185324	chr5:2045107-2045108	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114037884	chr5:2045171-2045172	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs558175614	chr5:2045174-2045175	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs573627452	chr5:2045229-2045230	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs374509249	chr5:2045239-2045240	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs376472467	chr5:2045262-2045263	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs11744624	chr5:2045294-2045295	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs568438387	chr5:2045429-2045430	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs540211834	chr5:2045496-2045497	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs28722145	chr5:2045532-2045533	Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187228665	chr5:2045547-2045548	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144394060	chr5:2045565-2045566	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21364760	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2042600-2046000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:2044400-2045800	ZNF genes & repeats	Aorta	Aorta
3	chr5:2046000-2056800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:2047200-2047400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:2047200-2047400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:2047400-2048600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:2048200-2048800	ZNF genes & repeats	Lung	lung
8	chr5:2048400-2049400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:2048600-2049000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:2051200-2052000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:2051400-2052000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:2051600-2052000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:2056800-2057200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr5:2057200-2059400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:2059400-2060400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:2060000-2060800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:2060400-2060800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:2060400-2060800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr5:2060800-2065400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:2060800-2066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:2064400-2064600	Bivalent/Poised TSS	Hela-S3	cervix
22	chr5:2065400-2065600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:2065600-2066000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:2066000-2066200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:2066000-2066800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:2066000-2069000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr5:2066200-2067000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:2066600-2067200	Bivalent Enhancer	Fetal Brain Male	brain
29	chr5:2066600-2067200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr5:2067000-2073800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:2067400-2069400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:2067600-2068400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:2067800-2069000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr5:2067800-2069200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:2068400-2069600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:2069200-2070400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:2070400-2077200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:2070800-2071000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr5:2072000-2073200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:2073800-2077400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr5:2074000-2074800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:2075600-2076400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:2076400-2077800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:2077800-2078600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:2078000-2078200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:2078000-2078600	Enhancers	HepG2	liver
47	chr5:2084400-2085000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:2084400-2085200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:2084600-2085000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:2084800-2085600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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