Variant report

Variant	esv3369096
Chromosome Location	chr12:120842869-120844817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120729785..120732038-chr12:120844393..120846868,2	MCF-7	breast:
2	chr12:120843298..120845547-chr12:120848806..120851081,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200795	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545080754	chr12:120842955-120842956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117064354	chr12:120842957-120842958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560338376	chr12:120842958-120842959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548769482	chr12:120842971-120842972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556930151	chr12:120843002-120843003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576630354	chr12:120843071-120843072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545658993	chr12:120843073-120843074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185904390	chr12:120843094-120843095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117424506	chr12:120843097-120843098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531733893	chr12:120843159-120843160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190425783	chr12:120843185-120843186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561317711	chr12:120843191-120843192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73221341	chr12:120843247-120843248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551168093	chr12:120843275-120843276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114183049	chr12:120843282-120843283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571147838	chr12:120843290-120843291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563679525	chr12:120843320-120843321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532435088	chr12:120843332-120843333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552438108	chr12:120843340-120843341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs118147689	chr12:120843383-120843384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372214613	chr12:120843445-120843446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536942874	chr12:120843461-120843462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534466638	chr12:120843469-120843470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547993204	chr12:120843536-120843537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11834189	chr12:120843553-120843554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs200905546	chr12:120843595-120843596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150232857	chr12:120843596-120843597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201682423	chr12:120843597-120843598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57979028	chr12:120843598-120843599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61945849	chr12:120843599-120843600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368925425	chr12:120843601-120843602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149647262	chr12:120843621-120843622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556806344	chr12:120843645-120843646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200801172	chr12:120843647-120843648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576754430	chr12:120843656-120843657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567427541	chr12:120843717-120843718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374830487	chr12:120843720-120843721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539100212	chr12:120843761-120843762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201330295	chr12:120843810-120843811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200122265	chr12:120843811-120843812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139284222	chr12:120843870-120843871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143167123	chr12:120843904-120843905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546444566	chr12:120843933-120843934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368447984	chr12:120843936-120843937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147489919	chr12:120843938-120843939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374740791	chr12:120843981-120843982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541596169	chr12:120843993-120843994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148525953	chr12:120844070-120844071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368826516	chr12:120844073-120844074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574963654	chr12:120844074-120844075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120827200-120875200	Weak transcription	Right Atrium	heart
2	chr12:120840600-120843800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:120840600-120851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:120840600-120851600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:120840800-120844000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:120840800-120844000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:120841800-120843800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:120842400-120843800	Weak transcription	Brain Germinal Matrix	brain
9	chr12:120842400-120844000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:120842600-120844000	Weak transcription	Fetal Lung	lung
11	chr12:120843800-120844400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120843800-120844400	Enhancers	Brain Germinal Matrix	brain
13	chr12:120843800-120844600	Enhancers	Rectal Smooth Muscle	rectum
14	chr12:120844000-120844200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:120844000-120844200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:120844000-120844200	Enhancers	Fetal Lung	lung
17	chr12:120844000-120844600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:120844000-120844600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:120844200-120844400	Weak transcription	Fetal Lung	lung
20	chr12:120844200-120844600	Enhancers	Colon Smooth Muscle	Colon
21	chr12:120844400-120844600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:120844400-120850200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:120844600-120850000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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