Variant report

Variant	esv3445417
Chromosome Location	chr12:33358734-33401031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33362959..33364944-chr12:33375328..33377140,2	MCF-7	breast:
2	chr12:33388213..33390806-chr12:33400854..33403757,2	K562	blood:
3	chr12:33388213..33390806-chr12:33400854..33403757,2	K562	blood:
4	chr12:33362959..33364944-chr12:33375328..33377140,2	MCF-7	breast:
5	chr11:63252529..63253373-chr12:33376482..33377209,2	MCF-7	breast:
6	chr12:33389850..33391877-chr17:56707852..56709552,2	MCF-7	breast:
7	chr12:33352581..33354830-chr12:33377901..33380078,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNM1L-6	chr12:33366391-33366587	l_627_chr12:33361965-33366587_testes
2	lnc-DNM1L-6	chr12:33361966-33362090	l_627_chr12:33361965-33366587_testes

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 461 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150882775	chr12:33358737-33358738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186238048	chr12:33358785-33358786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61927403	chr12:33358789-33358790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138292217	chr12:33358815-33358816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540170438	chr12:33358828-33358829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547281355	chr12:33358853-33358854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11052525	chr12:33358884-33358885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375274949	chr12:33358911-33358912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569700896	chr12:33358912-33358913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs397851244	chr12:33358929-33358930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397849890	chr12:33358930-33358931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56764159	chr12:33358931-33358932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542561574	chr12:33358932-33358933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535802975	chr12:33358934-33358935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555590825	chr12:33358959-33358960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11052526	chr12:33358964-33358965	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371800168	chr12:33359051-33359052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537952676	chr12:33359052-33359053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376203966	chr12:33359084-33359085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557151722	chr12:33359118-33359119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115336108	chr12:33359137-33359138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35653702	chr12:33359150-33359151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552818124	chr12:33359201-33359202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541820373	chr12:33359205-33359206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147339185	chr12:33359220-33359221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1457682	chr12:33359231-33359232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545776296	chr12:33359245-33359246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561517074	chr12:33359271-33359272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530677872	chr12:33359276-33359277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543957703	chr12:33359286-33359287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10844499	chr12:33359383-33359384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533538995	chr12:33359426-33359427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141009970	chr12:33359503-33359504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11052527	chr12:33359585-33359586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs7972846	chr12:33361972-33361973	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7972951	chr12:33361994-33361995	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187976065	chr12:33362041-33362042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs553843646	chr12:33362050-33362051	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs567291423	chr12:33362063-33362064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs201157226	chr12:33366400-33366401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs550392718	chr12:33366486-33366487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs138465071	chr12:33366554-33366555	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs11052531	chr12:33366555-33366556	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11052538	chr12:33375456-33375457	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181062880	chr12:33375565-33375566	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs542888637	chr12:33375592-33375593	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs556061972	chr12:33375616-33375617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576320822	chr12:33375651-33375652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544942014	chr12:33375661-33375662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564917206	chr12:33375693-33375694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33358600-33359600	Enhancers	Colon Smooth Muscle	Colon
2	chr12:33358800-33359400	Enhancers	Brain Anterior Caudate	brain
3	chr12:33375400-33375600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:33375400-33376200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:33375600-33376200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:33375600-33380600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:33375800-33376400	Enhancers	Esophagus	oesophagus
8	chr12:33376400-33376800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:33376400-33379200	Weak transcription	Esophagus	oesophagus
10	chr12:33376800-33377400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:33380600-33380800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:33398400-33398800	Enhancers	Colon Smooth Muscle	Colon
13	chr12:33399200-33400000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:33400000-33402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:33400400-33400800	Enhancers	HepG2	liver

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