Variant report

Variant	nsv967623
Chromosome Location	chr8:104028984-104031355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:104030731-104030781	HCM	heart:	n/a
2	chr8:104030731-104030781	SAEC	small airway:	n/a
3	chr8:104030731-104030781	BE2_C	brain:	n/a
4	chr8:104030731-104030781	ovcar-3	ovarian:	n/a
5	chr8:104030731-104030781	RPTEC	kidney:	n/a
6	chr8:104030731-104030781	GM12878	blood:	n/a
7	chr8:104030731-104030781	AG09319	gingival:	n/a
8	chr8:104030731-104030781	IMR90	lung:	fetal
9	chr8:104030731-104030781	HNPCEpiC	eye:	n/a
10	chr8:104030731-104030781	NH-A	brain:	n/a
11	chr8:104030731-104030781	HCT-116	colon:	n/a
12	chr8:104030731-104030781	PANC-1	pancreas:	n/a
13	chr8:104030731-104030781	ProgFib	skin:	n/a
14	chr8:104030731-104030781	HRCEpiC	kidney:	n/a
15	chr8:104030731-104030781	AG10803	skin:	n/a
16	chr8:104030731-104030781	NB4	blood:	n/a
17	chr8:104030731-104030781	HRPEpiC	eye:	n/a
18	chr8:104030731-104030781	PFSK-1	brain:	n/a
19	chr8:104030731-104030781	NT2-D1	testis:	n/a
20	chr8:104030731-104030781	SKMC	muscle:	n/a
21	chr8:104030731-104030781	HPAEpiC	pulmonary alveolar:	n/a
22	chr8:104030731-104030781	K562	blood:	n/a
23	chr8:104030731-104030781	HEK293	kidney:	embryo
24	chr8:104030731-104030781	H1-hESC	embryonic stem cell:	embryo
25	chr8:104030731-104030781	HIPEpiC	eye:	n/a
26	chr8:104030731-104030781	SK-N-SH	brain:	n/a
27	chr8:104030731-104030781	HEEpiC	esophagus:	n/a
28	chr8:104030731-104030781	PrEC	prostate:	n/a
29	chr8:104030731-104030781	AG04449	skin:	fetal
30	chr8:104030731-104030781	Hepatocyte	liver:	n/a
31	chr8:104030731-104030781	AG04450	lung:	fetal
32	chr8:104030731-104030781	NHDF-neo	bronchial:	n/a
33	chr8:104030731-104030781	Hela-S3	cervix:	n/a
34	chr8:104030731-104030781	NHBE	bronchial:	n/a
35	chr8:104030731-104030781	GM06990	blood:	n/a
36	chr8:104030731-104030781	HCPEpiC	choroid plexus:	n/a
37	chr8:104030731-104030781	A549	lung:	n/a
38	chr8:104030731-104030781	SK-N-SH_RA	brain:	n/a
39	chr8:104030731-104030781	HUVEC	blood vessel:	n/a
40	chr8:104030731-104030781	LNCaP	prostate:	n/a
41	chr8:104030731-104030781	GM12892	blood:	n/a
42	chr8:104030731-104030781	AoSMC	blood vessel:	n/a
43	chr8:104030731-104030781	ECC-1	luminal epithelium:	n/a
44	chr8:104030731-104030781	MCF-7	breast:	n/a
45	chr8:104030731-104030781	CMK	blood:	n/a
46	chr8:104030731-104030781	HRE	kidney:	n/a
47	chr8:104030731-104030781	BJ	skin:	n/a
48	chr8:104030731-104030781	GM19239	blood:	n/a
49	chr8:104030731-104030781	HCF	heart:	n/a
50	chr8:104030731-104030781	Jurkat	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104026806..104029489-chr8:104031161..104033140,3	K562	blood:
2	chr8:104026806..104029489-chr8:104031161..104032899,2	K562	blood:
3	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
4	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
5	chr8:103873561..103877987-chr8:104030387..104035295,15	K562	blood:
6	chr8:104024663..104026547-chr8:104030749..104032308,2	MCF-7	breast:
7	chr8:103875552..103877856-chr8:104031071..104034645,4	K562	blood:
8	chr8:104027811..104029796-chr8:104031590..104033402,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1C1-2	chr8:104028972-104029817	NONHSAT128148

No data

Variant related genes	Relation type
ATP6V1C1	CpG island
ENSG00000253320	chromatin interactions
ENSG00000155096	chromatin interactions
ENSG00000155097	chromatin interactions
ENSG00000253663	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141061864	chr8:104028986-104028987	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs541419732	chr8:104029040-104029041	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs114115004	chr8:104029044-104029045	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs572100758	chr8:104029055-104029056	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs72669319	chr8:104029089-104029090	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs188288707	chr8:104029136-104029137	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs531913207	chr8:104029176-104029177	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs545868091	chr8:104029239-104029240	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs61995700	chr8:104029275-104029276	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs562002076	chr8:104029282-104029283	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs529380843	chr8:104029295-104029296	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs559731009	chr8:104029300-104029301	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs547623565	chr8:104029330-104029331	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs181783099	chr8:104029347-104029348	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs539480858	chr8:104029378-104029379	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs111957471	chr8:104029379-104029380	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs575262687	chr8:104029411-104029412	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs2515174	chr8:104029480-104029481	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537602544	chr8:104029482-104029483	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs377468562	chr8:104029487-104029488	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs17199777	chr8:104029528-104029529	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs574586014	chr8:104029589-104029590	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs80100775	chr8:104029631-104029632	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs184913385	chr8:104029633-104029634	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs531644956	chr8:104029636-104029637	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs2515180	chr8:104029679-104029680	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545836042	chr8:104029681-104029682	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs551315186	chr8:104029728-104029729	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs189586652	chr8:104029748-104029749	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs181683498	chr8:104029752-104029753	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs187037205	chr8:104029761-104029762	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs562305602	chr8:104029812-104029813	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs529490326	chr8:104029825-104029826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547851765	chr8:104029844-104029845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs559433224	chr8:104029865-104029866	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs533125651	chr8:104029935-104029936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551364706	chr8:104029943-104029944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs545841403	chr8:104029976-104029977	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs370078497	chr8:104029977-104029978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs537738809	chr8:104029996-104029997	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs138999333	chr8:104030000-104030001	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs376585644	chr8:104030001-104030002	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs2047374	chr8:104030054-104030055	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs3133428	chr8:104030079-104030080	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs553802917	chr8:104030096-104030097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538383813	chr8:104030097-104030098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191073469	chr8:104030098-104030099	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs539401576	chr8:104030100-104030101	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs181387603	chr8:104030109-104030110	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563019072	chr8:104030140-104030141	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104023200-104032000	Weak transcription	K562	blood
2	chr8:104023200-104032800	Weak transcription	Pancreas	Pancrea
3	chr8:104026600-104032000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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