Variant report

Variant	esv3341945
Chromosome Location	chr12:33714435-33718033
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	chr12:33592469..33594296-chr12:33715860..33717717,2	MCF-7	breast:
2	chr12:33711689..33714048-chr12:33717879..33720013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110975	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182818419	chr12:33714440-33714441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566638501	chr12:33714470-33714471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12426686	chr12:33714473-33714474	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555457280	chr12:33714526-33714527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537271726	chr12:33714532-33714533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559090024	chr12:33714556-33714557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142391226	chr12:33714574-33714575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537587044	chr12:33714579-33714580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58813762	chr12:33714603-33714604	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187509044	chr12:33714635-33714636	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs540896331	chr12:33714644-33714645	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs190752218	chr12:33714652-33714653	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs183321438	chr12:33714665-33714666	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs369289002	chr12:33714689-33714690	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs151334511	chr12:33714730-33714731	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs1384602	chr12:33714743-33714744	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572080081	chr12:33714787-33714788	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs140597531	chr12:33714800-33714801	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs545206578	chr12:33714805-33714806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs1384601	chr12:33714866-33714867	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs115856089	chr12:33714880-33714881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs116232970	chr12:33714881-33714882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs540427563	chr12:33714912-33714913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs35481968	chr12:33714930-33714931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376242767	chr12:33714933-33714934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs74675231	chr12:33714945-33714946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs78978445	chr12:33714991-33714992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551413407	chr12:33715611-33715612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs367959886	chr12:33715650-33715651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138603903	chr12:33715657-33715658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs550992887	chr12:33715678-33715679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs79477671	chr12:33715689-33715690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs546978515	chr12:33715690-33715691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs147830436	chr12:33715717-33715718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs192144195	chr12:33715718-33715719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs7316635	chr12:33715726-33715727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs149305298	chr12:33715748-33715749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs10437769	chr12:33715749-33715750	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567372224	chr12:33715815-33715816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531223546	chr12:33715821-33715822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545776658	chr12:33715866-33715867	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372482182	chr12:33715867-33715868	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs377086651	chr12:33715926-33715927	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552540288	chr12:33715927-33715928	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7316878	chr12:33715933-33715934	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs184510685	chr12:33715962-33715963	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541575474	chr12:33715989-33715990	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7487184	chr12:33716044-33716045	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574912010	chr12:33716091-33716092	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368271979	chr12:33716110-33716111	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33704800-33714600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33713600-33714600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:33714000-33714600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:33714000-33714800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr12:33714200-33714600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:33714600-33714800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:33714600-33714800	ZNF genes & repeats	Pancreas	Pancrea
8	chr12:33714600-33715000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:33715600-33716200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links