Variant report

Variant	esv4613
Chromosome Location	chr12:33620476-33650827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33615181..33617280-chr12:33622628..33625177,2	MCF-7	breast:
2	chr12:33632921..33635641-chr12:33638680..33640584,2	K562	blood:
3	chr12:33636131..33639117-chr12:33639347..33641138,2	MCF-7	breast:
4	chr12:33631092..33633580-chr12:33640097..33642228,2	MCF-7	breast:
5	chr12:33632921..33635641-chr12:33638680..33640584,2	K562	blood:
6	chr12:33636131..33639117-chr12:33639347..33641138,2	MCF-7	breast:
7	chr12:33631092..33633580-chr12:33640097..33642228,2	MCF-7	breast:

Extended variants
information (count: 375 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376510054	chr12:33629412-33629413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187305617	chr12:33629456-33629457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565401902	chr12:33629462-33629463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527769780	chr12:33629466-33629467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546503974	chr12:33629502-33629503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1601006	chr12:33629519-33629520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529213197	chr12:33629541-33629542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1447870	chr12:33629542-33629543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192023830	chr12:33629567-33629568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183115911	chr12:33629583-33629584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566122391	chr12:33629592-33629593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187709312	chr12:33629596-33629597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138660532	chr12:33629632-33629633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373336938	chr12:33629705-33629706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533880530	chr12:33629782-33629783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141900845	chr12:33629801-33629802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150787631	chr12:33629810-33629811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377257160	chr12:33629814-33629815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555376365	chr12:33629933-33629934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557318310	chr12:33629950-33629951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574171616	chr12:33629955-33629956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550760601	chr12:33635418-33635419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542145155	chr12:33635421-33635422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191714803	chr12:33635464-33635465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184131092	chr12:33635476-33635477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10437796	chr12:33635494-33635495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532569389	chr12:33635571-33635572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138658984	chr12:33635611-33635612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7311794	chr12:33635630-33635631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7311801	chr12:33635654-33635655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200814306	chr12:33635671-33635672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538080584	chr12:33635687-33635688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557908772	chr12:33635793-33635794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11052726	chr12:33635830-33635831	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540910785	chr12:33635845-33635846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560582622	chr12:33635875-33635876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113714398	chr12:33635884-33635885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142754963	chr12:33635898-33635899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548728226	chr12:33635949-33635950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562986175	chr12:33635958-33635959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189974680	chr12:33635959-33635960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182120996	chr12:33635968-33635969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564305877	chr12:33635983-33635984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73315729	chr12:33636016-33636017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546885222	chr12:33636074-33636075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566623553	chr12:33636075-33636076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537789390	chr12:33636132-33636133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548552077	chr12:33636198-33636199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550043906	chr12:33636238-33636239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11052727	chr12:33636299-33636300	Enhancers Weak transcription	n/a	n/a	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	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33629400-33629600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:33629400-33629800	Enhancers	HSMM	muscle
3	chr12:33629400-33630000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr12:33635400-33635600	Enhancers	K562	blood
5	chr12:33635600-33636400	Weak transcription	K562	blood
6	chr12:33635600-33637600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:33636400-33637800	Enhancers	Fetal Heart	heart
8	chr12:33636400-33638000	Enhancers	K562	blood
9	chr12:33637200-33637400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:33637400-33639200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:33637600-33637800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:33637800-33638200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:33638200-33640800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:33639000-33640600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:33639200-33639600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:33639600-33646200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:33640800-33641400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:33641000-33641200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:33641000-33642000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:33641000-33642200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:33641200-33645200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:33641600-33642200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:33641600-33642600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:33641800-33642200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:33641800-33642200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:33642200-33645200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:33645200-33645400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr12:33645200-33645600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:33645200-33645800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:33645200-33645800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links