Variant report

Variant	nsv1054927
Chromosome Location	chr12:33325003-33379954
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33326381..33328792-chr12:33334118..33335651,2	MCF-7	breast:
2	chr11:63252529..63253373-chr12:33376482..33377209,2	MCF-7	breast:
3	chr12:33362959..33364944-chr12:33375328..33377140,2	MCF-7	breast:
4	chr12:33333640..33335661-chr12:33603103..33604823,2	MCF-7	breast:
5	chr12:33330756..33333528-chr12:33336266..33338404,2	K562	blood:
6	chr12:33330756..33333528-chr12:33336266..33338404,2	K562	blood:
7	chr12:33362959..33364944-chr12:33375328..33377140,2	MCF-7	breast:
8	chr12:33352581..33354830-chr12:33377901..33380078,2	MCF-7	breast:
9	chr12:33329813..33331399-chr12:34175008..34176744,2	K562	blood:
10	chr12:33332688..33334476-chr12:33590436..33592933,2	MCF-7	breast:
11	chr12:33334030..33336914-chr12:33342942..33345656,2	MCF-7	breast:
12	chr12:33334030..33336914-chr12:33342942..33345656,2	MCF-7	breast:
13	chr12:33352581..33354830-chr12:33377901..33380078,2	MCF-7	breast:
14	chr12:33326381..33328792-chr12:33334118..33335651,2	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
ENSG00000110975	chromatin interactions
ENSG00000139133	chromatin interactions

Extended variants
information (count: 846 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:846 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1379533	chr12:33329813-33329814	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570662591	chr12:33329821-33329822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539670582	chr12:33329823-33329824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4931698	chr12:33329824-33329825	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535065620	chr12:33329832-33329833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185833303	chr12:33329863-33329864	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369587569	chr12:33329899-33329900	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191101532	chr12:33329924-33329925	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145153295	chr12:33329927-33329928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558290581	chr12:33329975-33329976	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182402886	chr12:33329985-33329986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540971922	chr12:33329987-33329988	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187033334	chr12:33330044-33330045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560760307	chr12:33330056-33330057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79204711	chr12:33330071-33330072	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74072738	chr12:33330079-33330080	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562984011	chr12:33330100-33330101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148749813	chr12:33330147-33330148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550502257	chr12:33330154-33330155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191875965	chr12:33330206-33330207	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532972867	chr12:33330249-33330250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547586109	chr12:33330253-33330254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142310574	chr12:33330272-33330273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566406556	chr12:33330289-33330290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12423297	chr12:33330305-33330306	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146811319	chr12:33330314-33330315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568621857	chr12:33330316-33330317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527418991	chr12:33330323-33330324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140357470	chr12:33330334-33330335	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574827718	chr12:33330375-33330376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557565721	chr12:33330439-33330440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs78580721	chr12:33330460-33330461	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs115532285	chr12:33330533-33330534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554534783	chr12:33330586-33330587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574348005	chr12:33330697-33330698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182860504	chr12:33330707-33330708	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs562821443	chr12:33330769-33330770	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77693883	chr12:33330779-33330780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545524198	chr12:33330812-33330813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188801358	chr12:33330821-33330822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533178572	chr12:33330828-33330829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs193058806	chr12:33330913-33330914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537823600	chr12:33330931-33330932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560032071	chr12:33330955-33330956	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529114141	chr12:33330960-33330961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs4931699	chr12:33330966-33330967	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370226847	chr12:33330978-33330979	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111358288	chr12:33330980-33330981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568881595	chr12:33331021-33331022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117536641	chr12:33331060-33331061	Inactive region	Chromatin interactive region	1 gene(s)	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	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33331600-33334600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:33333200-33335400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:33333400-33334200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:33333600-33334000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr12:33334200-33334400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:33334200-33345000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:33334400-33335200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:33334600-33336600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:33335200-33336600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:33336600-33337000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:33337000-33337600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:33337600-33337800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:33345000-33345200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:33351600-33352000	Active TSS	Fetal Lung	lung
15	chr12:33358600-33359600	Enhancers	Colon Smooth Muscle	Colon
16	chr12:33358800-33359400	Enhancers	Brain Anterior Caudate	brain
17	chr12:33375400-33375600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:33375400-33376200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:33375600-33376200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:33375600-33380600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:33375800-33376400	Enhancers	Esophagus	oesophagus
22	chr12:33376400-33376800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:33376400-33379200	Weak transcription	Esophagus	oesophagus
24	chr12:33376800-33377400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links