Variant report

Variant	nsv963664
Chromosome Location	chr2:96240105-96244648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:96240752-96240773	GM10266	blood:	n/a	n/a
2	CTCF	chr2:96240780-96240799	GM10266	blood:	n/a	n/a
3	JUND	chr2:96242493-96242727	HepG2	liver:	n/a	n/a
4	MAFF	chr2:96241619-96241986	HepG2	liver:	n/a	chr2:96241797-96241815 chr2:96241796-96241810
5	MAFF	chr2:96241617-96241961	K562	blood:	n/a	chr2:96241797-96241815 chr2:96241796-96241810
6	MAFK	chr2:96241621-96241986	HepG2	liver:	n/a	chr2:96241796-96241810 chr2:96241800-96241809 chr2:96241793-96241813 chr2:96241797-96241807 chr2:96241798-96241814 chr2:96241795-96241811 chr2:96241798-96241813
7	MAFK	chr2:96241621-96241988	IMR90	lung:	n/a	chr2:96241796-96241810 chr2:96241800-96241809 chr2:96241793-96241813 chr2:96241797-96241807 chr2:96241798-96241814 chr2:96241795-96241811 chr2:96241798-96241813
8	MAFK	chr2:96241648-96241972	K562	blood:	n/a	chr2:96241796-96241810 chr2:96241800-96241809 chr2:96241793-96241813 chr2:96241797-96241807 chr2:96241798-96241814 chr2:96241795-96241811 chr2:96241798-96241813
9	MAFK	chr2:96241662-96241993	Hela-S3	cervix:	n/a	chr2:96241796-96241810 chr2:96241800-96241809 chr2:96241793-96241813 chr2:96241797-96241807 chr2:96241798-96241814 chr2:96241795-96241811 chr2:96241798-96241813
10	MAFK	chr2:96241619-96241988	HepG2	liver:	n/a	chr2:96241796-96241810 chr2:96241800-96241809 chr2:96241793-96241813 chr2:96241797-96241807 chr2:96241798-96241814 chr2:96241795-96241811 chr2:96241798-96241813
11	MYC	chr2:96240966-96241021	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr2:96242563-96242623	MCF10A-Er-Src	breast:	n/a	n/a
13	RFX5	chr2:96242440-96242562	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM43-5	chr2:96242981-96243209	NONHSAT072499
2	lnc-TRIM43-5	chr2:96243917-96243932	NONHSAT072499
3	lnc-TRIM43-5	chr2:96240647-96241052	NONHSAT072499
4	lnc-TRIM43-5	chr2:96241343-96241421	NONHSAT072499

Variant related genes	Relation type
TRIM51JP	TF binding region

Extended variants
information (count: 93 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554242165	chr2:96240143-96240144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567500501	chr2:96240205-96240206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536433080	chr2:96240290-96240291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556496020	chr2:96240355-96240356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553316559	chr2:96240363-96240364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76333649	chr2:96240368-96240369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371275736	chr2:96240408-96240409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200181516	chr2:96240417-96240418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115700567	chr2:96240419-96240420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145328859	chr2:96240424-96240425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544738206	chr2:96240432-96240433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543522826	chr2:96240498-96240499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553978931	chr2:96240565-96240566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572160500	chr2:96240577-96240578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113398319	chr2:96240592-96240593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530247173	chr2:96240665-96240666	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs540400675	chr2:96240685-96240686	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs560416955	chr2:96240686-96240687	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs532627591	chr2:96240742-96240743	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs201721546	chr2:96240792-96240793	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs552588508	chr2:96240811-96240812	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs564943796	chr2:96240849-96240850	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs530407062	chr2:96240852-96240853	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs113845160	chr2:96240900-96240901	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs567332665	chr2:96240923-96240924	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs192547335	chr2:96240944-96240945	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs185065052	chr2:96240964-96240965	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs566781078	chr2:96241006-96241007	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs147981600	chr2:96241012-96241013	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs558570794	chr2:96241049-96241050	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs1974909	chr2:96241051-96241052	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564753004	chr2:96241057-96241058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145886511	chr2:96241058-96241059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532533941	chr2:96241071-96241072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544239382	chr2:96241248-96241249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574546023	chr2:96241262-96241263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188354747	chr2:96241317-96241318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560357298	chr2:96241363-96241364	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs577021359	chr2:96241422-96241423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546506465	chr2:96241446-96241447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75032531	chr2:96241488-96241489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565315964	chr2:96241581-96241582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370786157	chr2:96241586-96241587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193180957	chr2:96241644-96241645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550276093	chr2:96241647-96241648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560966876	chr2:96241658-96241659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7577991	chr2:96241688-96241689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546707637	chr2:96241764-96241765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184677221	chr2:96241798-96241799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570831609	chr2:96243017-96243018	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96239400-96241800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:96239600-96241200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:96240600-96241400	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:96243400-96245000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:96244400-96244800	Enhancers	HSMMtube	muscle
6	chr2:96244600-96245000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links