Variant report

Variant	nsv1020991
Chromosome Location	chr5:8014412-8129558
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:19)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:8105063..8106753-chr5:8107596..8110056,2	K562	blood:
2	chr5:8117942..8120376-chr5:8122050..8123873,2	K562	blood:
3	chr5:7990734..7993974-chr5:8011834..8015550,5	K562	blood:
4	chr5:8005906..8008212-chr5:8012967..8015085,2	K562	blood:
5	chr5:8105063..8106753-chr5:8107596..8110056,2	K562	blood:
6	chr5:8119112..8121414-chr5:8129227..8131292,2	K562	blood:
7	chr5:8102515..8104244-chr5:8107630..8109613,2	K562	blood:
8	chr1:106850774..106851368-chr5:8018994..8019495,2	MCF-7	breast:
9	chr5:8011424..8014393-chr5:8015605..8017261,2	K562	blood:
10	chr5:8012836..8015830-chr5:9202478..9204498,2	K562	blood:
11	chr5:8101057..8104015-chr5:8107108..8109613,2	K562	blood:
12	chr5:8117942..8120376-chr5:8122050..8123873,2	K562	blood:
13	chr5:8106076..8107947-chr6:87646502..87649216,2	MCF-7	breast:
14	chr5:7927725..7928301-chr5:8047816..8048769,2	K562	blood:
15	chr5:8129393..8131409-chr5:8134410..8137321,2	K562	blood:
16	chr5:8101057..8104015-chr5:8107108..8109613,2	K562	blood:
17	chr5:8119112..8121414-chr5:8129227..8131292,2	K562	blood:
18	chr5:8003382..8004914-chr5:8014701..8016204,2	K562	blood:
19	chr5:8102515..8104244-chr5:8107630..8109613,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRR-2	chr5:8020150-8020227	XLOC_004283
2	lnc-FASTKD3-3	chr5:8080299-8080874	NONHSAT100278
3	lnc-MTRR-2	chr5:8051309-8052115	XLOC_004283

No data

Variant related genes	Relation type
ENSG00000168830	chromatin interactions

Extended variants
information (count: 1793 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1793 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543770398	chr5:8014422-8014423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143215481	chr5:8014452-8014453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532449588	chr5:8014454-8014455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13162575	chr5:8014517-8014518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113312551	chr5:8014540-8014541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558823101	chr5:8014569-8014570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569628032	chr5:8014623-8014624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13167036	chr5:8014665-8014666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114281297	chr5:8014699-8014700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568710408	chr5:8014756-8014757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537361850	chr5:8014783-8014784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113424550	chr5:8014852-8014853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550578314	chr5:8014858-8014859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17248894	chr5:8014895-8014896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112666215	chr5:8014903-8014904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113601341	chr5:8014929-8014930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138477114	chr5:8014982-8014983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17195685	chr5:8015032-8015033	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572860278	chr5:8015100-8015101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114560305	chr5:8015106-8015107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112130622	chr5:8015145-8015146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555292656	chr5:8015173-8015174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575460862	chr5:8015183-8015184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193264088	chr5:8015201-8015202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115002612	chr5:8015209-8015210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149280183	chr5:8015211-8015212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545803053	chr5:8015243-8015244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185382787	chr5:8015245-8015246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13167651	chr5:8015272-8015273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188343492	chr5:8015285-8015286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562181502	chr5:8015301-8015302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13167799	chr5:8015365-8015366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs13167801	chr5:8015370-8015371	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs13167814	chr5:8015400-8015401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191360863	chr5:8015414-8015415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546621794	chr5:8015419-8015420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12520611	chr5:8015429-8015430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111663254	chr5:8015460-8015461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535212584	chr5:8015490-8015491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73737933	chr5:8015575-8015576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1453357	chr5:8020166-8020167	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs141943479	chr5:8020206-8020207	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs111808964	chr5:8020216-8020217	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs35185388	chr5:8020222-8020223	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7716602	chr5:8025411-8025412	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs72722807	chr5:8025504-8025505	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34294965	chr5:8025535-8025536	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539456122	chr5:8025574-8025575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2968313	chr5:8025611-8025612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs76679267	chr5:8025636-8025637	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	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
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
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8011800-8015400	Enhancers	K562	blood
2	chr5:8013800-8015600	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:8014000-8015200	Enhancers	Fetal Lung	lung
4	chr5:8014000-8015600	Enhancers	Primary B cells from cord blood	blood
5	chr5:8014200-8015400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:8025400-8026800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:8033600-8034200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:8035800-8036400	Enhancers	Ovary	ovary
9	chr5:8036400-8041000	Weak transcription	Ovary	ovary
10	chr5:8046000-8047800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:8046000-8047800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:8046200-8047600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:8046400-8047400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:8046400-8047600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:8046400-8047600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:8046400-8047800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:8046600-8047400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:8046600-8047600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:8047200-8047400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:8047400-8058000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:8048400-8049600	Enhancers	Brain Germinal Matrix	brain
22	chr5:8049000-8049600	Enhancers	Fetal Brain Male	brain
23	chr5:8049400-8049600	Enhancers	Fetal Muscle Leg	muscle
24	chr5:8049400-8050400	Enhancers	Fetal Brain Female	brain
25	chr5:8049600-8058200	Weak transcription	Fetal Brain Male	brain
26	chr5:8049800-8051000	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:8051000-8051400	Enhancers	Fetal Muscle Leg	muscle
28	chr5:8051200-8051600	Enhancers	Esophagus	oesophagus
29	chr5:8053200-8053600	Enhancers	Ovary	ovary
30	chr5:8053600-8056600	Weak transcription	Ovary	ovary
31	chr5:8056200-8056400	Enhancers	Brain Cingulate Gyrus	brain
32	chr5:8056400-8060800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:8056600-8056800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:8056600-8056800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:8056600-8059200	Enhancers	Ovary	ovary
36	chr5:8056800-8058000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:8056800-8058200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:8057200-8057800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr5:8057600-8059000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:8057600-8059000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:8057600-8059400	Enhancers	Fetal Muscle Leg	muscle
42	chr5:8057800-8058000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:8057800-8058200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:8057800-8058200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr5:8057800-8058200	Enhancers	Fetal Lung	lung
46	chr5:8057800-8058400	Bivalent Enhancer	K562	blood
47	chr5:8057800-8059200	Enhancers	Fetal Muscle Trunk	muscle
48	chr5:8058000-8058200	ZNF genes & repeats	Right Atrium	heart
49	chr5:8058000-8058200	Enhancers	Spleen	Spleen
50	chr5:8058000-8058400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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