Variant report

Variant	esv3407433
Chromosome Location	chr12:124394999-124398147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124397482..124399331-chr12:124424154..124425975,2	K562	blood:
2	chr12:124397207..124398875-chr12:124456168..124458505,2	MCF-7	breast:
3	chr12:124397721..124401102-chr12:124402433..124404220,3	K562	blood:
4	chr12:124389629..124391597-chr12:124394347..124396284,2	K562	blood:

Variant related genes	Relation type
ENSG00000270095	chromatin interactions
ENSG00000179195	chromatin interactions
ENSG00000178882	chromatin interactions
ENSG00000119242	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375260311	chr12:124395052-124395053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201745708	chr12:124395069-124395070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372394800	chr12:124395071-124395072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147255526	chr12:124395077-124395078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372720252	chr12:124395104-124395105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535058132	chr12:124395109-124395110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371346899	chr12:124395138-124395139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552945433	chr12:124395141-124395142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374645379	chr12:124395225-124395226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368697543	chr12:124395228-124395229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35469016	chr12:124395260-124395261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372189030	chr12:124395261-124395262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376685505	chr12:124395263-124395264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531423772	chr12:124395274-124395275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555554656	chr12:124395313-124395314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11057391	chr12:124395353-124395354	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs56179989	chr12:124395355-124395356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369149001	chr12:124395417-124395418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535732303	chr12:124395449-124395450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140811639	chr12:124395454-124395455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192302078	chr12:124395475-124395476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563941593	chr12:124395496-124395497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56185305	chr12:124395504-124395505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141482807	chr12:124395533-124395534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549294270	chr12:124395563-124395564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567877135	chr12:124395599-124395600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183093414	chr12:124395614-124395615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547113218	chr12:124395638-124395639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148875882	chr12:124395717-124395718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375061139	chr12:124395718-124395719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571418316	chr12:124395731-124395732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34023777	chr12:124395741-124395742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561086425	chr12:124395757-124395758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202243654	chr12:124395845-124395846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187795021	chr12:124395848-124395849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200243041	chr12:124395858-124395859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184507815	chr12:124395860-124395861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190133425	chr12:124395870-124395871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200019893	chr12:124395872-124395873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201126428	chr12:124395878-124395879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192536081	chr12:124395888-124395889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182303302	chr12:124395935-124395936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201068671	chr12:124395947-124395948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184423989	chr12:124395967-124395968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202028879	chr12:124395973-124395974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112035131	chr12:124395990-124395991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192865833	chr12:124396000-124396001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200136800	chr12:124396043-124396044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111219700	chr12:124396057-124396058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200844335	chr12:124396066-124396067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124384000-124408400	Weak transcription	Fetal Brain Female	brain
2	chr12:124386000-124395800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:124390200-124397600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:124391600-124395000	Enhancers	Fetal Muscle Leg	muscle
5	chr12:124393000-124397200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:124393200-124398800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:124393400-124396800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:124393800-124395400	Enhancers	Brain Germinal Matrix	brain
9	chr12:124393800-124418000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:124394000-124395000	Enhancers	Brain Angular Gyrus	brain
11	chr12:124394200-124400200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:124394200-124418400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:124395200-124395600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr12:124395400-124395800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:124395400-124397600	Weak transcription	Brain Germinal Matrix	brain
16	chr12:124397000-124397200	Enhancers	Fetal Brain Male	brain
17	chr12:124397000-124397200	Enhancers	Right Ventricle	heart
18	chr12:124397200-124397400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:124397200-124397800	Weak transcription	Fetal Brain Male	brain
20	chr12:124397400-124397600	Enhancers	Duodenum Mucosa	Duodenum
21	chr12:124397600-124397800	Enhancers	Brain Germinal Matrix	brain
22	chr12:124397600-124398000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr12:124397600-124404800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:124397800-124398000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:124397800-124398000	Weak transcription	Brain Germinal Matrix	brain
26	chr12:124397800-124398000	Enhancers	Fetal Brain Male	brain
27	chr12:124397800-124398000	Active TSS	Spleen	Spleen
28	chr12:124397800-124398200	Enhancers	Stomach Mucosa	stomach
29	chr12:124398000-124398200	Active TSS	Duodenum Mucosa	Duodenum
30	chr12:124398000-124400000	Weak transcription	Spleen	Spleen
31	chr12:124398000-124402800	Weak transcription	Fetal Brain Male	brain

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