Variant report

Variant	nsv438238
Chromosome Location	chr12:119435753-119441212
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	chr12:119440640-119440790	WI-38	lung:	n/a	n/a
2	GATA2	chr12:119436979-119437314	SH-SY5Y	brain:	n/a	chr12:119437285-119437295 chr12:119437286-119437295 chr12:119437286-119437293 chr12:119437286-119437293 chr12:119437286-119437293 chr12:119437286-119437295
3	GATA3	chr12:119437715-119437867	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr12:119440057-119440257	SH-SY5Y	brain:	n/a	n/a
5	MAFK	chr12:119438099-119438207	HepG2	liver:	n/a	n/a
6	STAT3	chr12:119438392-119438567	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSPB8-2	chr12:119438581-119438648	ENSG00000256031.1
2	lnc-HSPB8-2	chr12:119438932-119439126	ENSG00000256031.1
3	lnc-HSPB8-2	chr12:119439456-119439647	ENSG00000256031.1

Variant related genes	Relation type
ENSG00000256031	TF binding region

Extended variants
information (count: 210 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7306404	chr12:119435753-119435754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547286763	chr12:119435759-119435760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60374861	chr12:119435761-119435762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556191979	chr12:119435763-119435764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529410137	chr12:119435797-119435798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549545575	chr12:119435813-119435814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576131797	chr12:119435817-119435818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569362982	chr12:119435896-119435897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143686228	chr12:119435897-119435898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372315767	chr12:119435933-119435934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374737661	chr12:119435947-119435948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375636512	chr12:119435987-119435988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79596244	chr12:119435991-119435992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12305240	chr12:119435992-119435993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34390086	chr12:119436012-119436013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150170234	chr12:119436018-119436019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185895578	chr12:119436070-119436071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397850419	chr12:119436074-119436075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35250419	chr12:119436082-119436083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573852817	chr12:119436105-119436106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536448027	chr12:119436117-119436118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375246764	chr12:119436258-119436259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572815515	chr12:119436269-119436270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555883118	chr12:119436296-119436297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7310002	chr12:119436302-119436303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544698748	chr12:119436353-119436354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547415844	chr12:119436389-119436390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564862283	chr12:119436469-119436470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375981714	chr12:119436490-119436491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572256786	chr12:119436514-119436515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190816075	chr12:119436527-119436528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561162852	chr12:119436648-119436649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547858739	chr12:119436677-119436678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578093341	chr12:119436681-119436682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549984273	chr12:119436745-119436746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562869329	chr12:119436811-119436812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531805134	chr12:119436860-119436861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551500922	chr12:119436877-119436878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74733139	chr12:119436884-119436885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534229288	chr12:119436907-119436908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547732416	chr12:119436958-119436959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567613043	chr12:119436959-119436960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563411870	chr12:119436962-119436963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536484137	chr12:119436999-119437000	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs183913330	chr12:119437009-119437010	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs529324123	chr12:119437016-119437017	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs116341353	chr12:119437035-119437036	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs538683945	chr12:119437041-119437042	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs558269298	chr12:119437045-119437046	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs138584361	chr12:119437062-119437063	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119427800-119440800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:119428000-119443000	Weak transcription	Fetal Brain Male	brain
3	chr12:119433000-119436200	Weak transcription	Fetal Brain Female	brain
4	chr12:119434200-119437600	Weak transcription	Brain Germinal Matrix	brain
5	chr12:119435000-119437000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:119436200-119437600	Enhancers	Fetal Brain Female	brain
7	chr12:119437000-119437200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:119437200-119444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:119437600-119440200	Strong transcription	Brain Germinal Matrix	brain
10	chr12:119437600-119440400	Weak transcription	Fetal Brain Female	brain
11	chr12:119439000-119439200	Enhancers	Fetal Muscle Leg	muscle
12	chr12:119439200-119441400	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:119440200-119440600	Weak transcription	Brain Germinal Matrix	brain
14	chr12:119440400-119441600	Genic enhancers	Fetal Brain Female	brain
15	chr12:119440600-119440800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:119440600-119443800	Enhancers	Brain Germinal Matrix	brain
17	chr12:119440600-119444800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:119440800-119441000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr12:119440800-119441000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:119440800-119441000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:119440800-119446800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:119440800-119448000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:119441000-119442000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:119441000-119442000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:119441000-119442800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:119441000-119443200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:119441000-119445200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:119441000-119446800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:119441200-119443000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:119441200-119443000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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