Variant report

Variant	nsv979813
Chromosome Location	chr3:28478897-28489553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr3:28479340-28479378	K562	blood:	n/a	n/a
2	MYC	chr3:28479315-28479333	K562	blood:	n/a	n/a
3	ZNF143	chr3:28480127-28480292	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF274	chr3:28485356-28485929	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF274	chr3:28485672-28486097	NT2-D1	testis:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:28388988..28390557-chr3:28488307..28491237,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CMC1-4	chr3:28489216-28489564	NONHSAT088791

No data

Variant related genes	Relation type
ENSG00000230480	TF binding region
ENSG00000163512	chromatin interactions

Extended variants
information (count: 394 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568460801	chr3:28478949-28478950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11715268	chr3:28478972-28478973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556548480	chr3:28478994-28478995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576381113	chr3:28479031-28479032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187019713	chr3:28479090-28479091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576344918	chr3:28479091-28479092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370161814	chr3:28479093-28479094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73825163	chr3:28479112-28479113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532725910	chr3:28479120-28479121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150667884	chr3:28479147-28479148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559007489	chr3:28479158-28479159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572593031	chr3:28479161-28479162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116001137	chr3:28479171-28479172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144857661	chr3:28479177-28479178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191864386	chr3:28479189-28479190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557846916	chr3:28479222-28479223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560424190	chr3:28479270-28479271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544481158	chr3:28479305-28479306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148173269	chr3:28479309-28479310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144051568	chr3:28479401-28479402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552406390	chr3:28479420-28479421	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559834028	chr3:28479444-28479445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528557720	chr3:28479504-28479505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552859318	chr3:28479537-28479538	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548803781	chr3:28479551-28479552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568272507	chr3:28479601-28479602	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537350370	chr3:28479653-28479654	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs147302295	chr3:28479689-28479690	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs113184036	chr3:28479717-28479718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs561274782	chr3:28479722-28479723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs367971861	chr3:28479733-28479734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs552669964	chr3:28479835-28479836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574818570	chr3:28479910-28479911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572943189	chr3:28479951-28479952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535192282	chr3:28479997-28479998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562338924	chr3:28480014-28480015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575465830	chr3:28480044-28480045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145180879	chr3:28480095-28480096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78259275	chr3:28480117-28480118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562956070	chr3:28480227-28480228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147160836	chr3:28480235-28480236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185235537	chr3:28480271-28480272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372452971	chr3:28480277-28480278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559478316	chr3:28480305-28480306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555475256	chr3:28480315-28480316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190114719	chr3:28480336-28480337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548346662	chr3:28480363-28480364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561967375	chr3:28480451-28480452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77778817	chr3:28480534-28480535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398091376	chr3:28480535-28480536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28471800-28479600	Weak transcription	Left Ventricle	heart
2	chr3:28473200-28492400	Weak transcription	Gastric	stomach
3	chr3:28473800-28482400	Weak transcription	Aorta	Aorta
4	chr3:28476400-28482200	Weak transcription	Pancreas	Pancrea
5	chr3:28477000-28481600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:28478400-28481800	Weak transcription	Ovary	ovary
7	chr3:28479400-28479600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr3:28479600-28479800	ZNF genes & repeats	Left Ventricle	heart
9	chr3:28479800-28482800	Weak transcription	Adipose Nuclei	Adipose
10	chr3:28479800-28509000	Weak transcription	Left Ventricle	heart
11	chr3:28480600-28489000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:28480800-28485600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:28481600-28482200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr3:28481800-28483800	Strong transcription	Ovary	ovary
15	chr3:28482200-28484200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:28482400-28483600	ZNF genes & repeats	Aorta	Aorta
17	chr3:28483600-28497000	Weak transcription	Brain Substantia Nigra	brain
18	chr3:28483800-28497600	Weak transcription	Ovary	ovary
19	chr3:28485000-28486400	ZNF genes & repeats	Liver	Liver
20	chr3:28485600-28486000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
21	chr3:28489400-28490000	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links