Variant report

Variant	esv3498641
Chromosome Location	chr12:121395975-121396765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120966137..120967701-chr12:121394938..121396488,2	MCF-7	breast:
2	chr12:121340572..121343086-chr12:121393518..121396194,2	MCF-7	breast:
3	chr12:121388948..121393139-chr12:121395354..121400145,4	K562	blood:

Variant related genes	Relation type
ENSG00000157837	chromatin interactions
ENSG00000110871	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7970807	chr12:121395989-121395990	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534482927	chr12:121396025-121396026	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs149289627	chr12:121396113-121396114	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs117131717	chr12:121396182-121396183	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs189737958	chr12:121396192-121396193	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377274954	chr12:121396193-121396194	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144534697	chr12:121396200-121396201	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs180857690	chr12:121396225-121396226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184920186	chr12:121396235-121396236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539630374	chr12:121396236-121396237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555041704	chr12:121396237-121396238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527619704	chr12:121396243-121396244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34199510	chr12:121396308-121396309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191050243	chr12:121396321-121396322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575024189	chr12:121396327-121396328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181808760	chr12:121396348-121396349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs74692266	chr12:121396356-121396357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529924378	chr12:121396363-121396364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148437768	chr12:121396408-121396409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187112348	chr12:121396431-121396432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551782262	chr12:121396484-121396485	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs75733401	chr12:121396489-121396490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548921462	chr12:121396497-121396498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113154345	chr12:121396498-121396499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58282825	chr12:121396511-121396512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs58498324	chr12:121396542-121396543	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534286890	chr12:121396586-121396587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191640381	chr12:121396608-121396609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28380723	chr12:121396646-121396647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs536863562	chr12:121396662-121396663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140246321	chr12:121396680-121396681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576657799	chr12:121396683-121396684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145671418	chr12:121396763-121396764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121393000-121399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:121393600-121397200	Enhancers	Fetal Intestine Small	intestine
3	chr12:121393600-121400600	Enhancers	Fetal Intestine Large	intestine
4	chr12:121393800-121396000	Enhancers	Duodenum Mucosa	Duodenum
5	chr12:121393800-121397200	Enhancers	HepG2	liver
6	chr12:121394000-121396800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:121394600-121398800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:121394600-121408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:121394800-121397400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr12:121395000-121396200	Weak transcription	Fetal Thymus	thymus
11	chr12:121395200-121396800	Weak transcription	A549	lung
12	chr12:121395200-121396800	Weak transcription	K562	blood
13	chr12:121395600-121397600	Enhancers	Colonic Mucosa	Colon
14	chr12:121395800-121396200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:121395800-121408200	Weak transcription	Fetal Kidney	kidney
16	chr12:121396200-121397200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr12:121396200-121399800	Enhancers	Fetal Thymus	thymus
18	chr12:121396600-121399000	Enhancers	Thymus	Thymus
19	chr12:121396600-121400600	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links