Variant report

Variant	nsv819312
Chromosome Location	chr13:95230891-95232148
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	chr13:95231577..95233411-chr13:95234016..95236097,2	MCF-7	breast:
2	chr13:95226835..95228844-chr13:95230634..95232226,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148442881	chr13:95230891-95230892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377042131	chr13:95230913-95230914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575696657	chr13:95230921-95230922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545816569	chr13:95230923-95230924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188701568	chr13:95230945-95230946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377264139	chr13:95230968-95230969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375335161	chr13:95230976-95230977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74908311	chr13:95230992-95230993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554752542	chr13:95231048-95231049	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574745661	chr13:95231061-95231062	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145231016	chr13:95231156-95231157	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559860974	chr13:95231230-95231231	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576760500	chr13:95231233-95231234	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9561636	chr13:95231235-95231236	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs192148730	chr13:95231269-95231270	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563256063	chr13:95231274-95231275	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75366505	chr13:95231285-95231286	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147283250	chr13:95231319-95231320	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74104447	chr13:95231332-95231333	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs117611777	chr13:95231345-95231346	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561951862	chr13:95231362-95231363	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140799516	chr13:95231518-95231519	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570688841	chr13:95231589-95231590	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539001581	chr13:95231602-95231603	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369538843	chr13:95231652-95231653	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568969868	chr13:95231658-95231659	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537953274	chr13:95231668-95231669	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112516978	chr13:95231669-95231670	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144644229	chr13:95231695-95231696	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182654469	chr13:95231729-95231730	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551775976	chr13:95231745-95231746	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151239942	chr13:95231746-95231747	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140615963	chr13:95231755-95231756	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547767905	chr13:95231781-95231782	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545771533	chr13:95231789-95231790	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150051719	chr13:95231824-95231825	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2275647	chr13:95231825-95231826	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs140238942	chr13:95231847-95231848	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541966780	chr13:95231851-95231852	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187689366	chr13:95231873-95231874	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7333594	chr13:95231904-95231905	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540896829	chr13:95231925-95231926	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2275648	chr13:95231981-95231982	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs533086764	chr13:95232008-95232009	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76332786	chr13:95232054-95232055	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112892366	chr13:95232078-95232079	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376991695	chr13:95232125-95232126	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95215000-95235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:95218400-95232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:95219200-95238200	Strong transcription	Primary T cells from cord blood	blood
4	chr13:95219600-95237000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:95219600-95245600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr13:95220800-95231000	Strong transcription	Liver	Liver
7	chr13:95220800-95237000	Strong transcription	GM12878-XiMat	blood
8	chr13:95220800-95237600	Strong transcription	Fetal Intestine Large	intestine
9	chr13:95221000-95237000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:95221000-95238000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:95221000-95240000	Strong transcription	Fetal Thymus	thymus
12	chr13:95221000-95241000	Strong transcription	Dnd41	blood
13	chr13:95221200-95235600	Strong transcription	Adipose Nuclei	Adipose
14	chr13:95221200-95236600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr13:95221200-95237400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr13:95221200-95238000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:95221200-95239200	Weak transcription	Brain Germinal Matrix	brain
18	chr13:95221400-95235400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:95221400-95237400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:95221400-95242800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr13:95221400-95245800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:95221600-95240000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:95221800-95237000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr13:95221800-95239800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:95221800-95241200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr13:95222000-95236000	Strong transcription	HMEC	breast
27	chr13:95222000-95237400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr13:95222000-95238200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:95222000-95240000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr13:95222000-95245000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr13:95222000-95247200	Weak transcription	Fetal Brain Male	brain
32	chr13:95222200-95235000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:95222200-95237400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:95222200-95239200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr13:95222200-95245000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:95222200-95245200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr13:95222400-95237000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr13:95222400-95237000	Strong transcription	NH-A	brain
39	chr13:95222400-95237000	Strong transcription	Osteobl	bone
40	chr13:95222400-95237200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr13:95222400-95237200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr13:95222400-95237400	Strong transcription	Placenta	Placenta
43	chr13:95222400-95239800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr13:95222600-95235600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:95222600-95237600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr13:95222600-95240000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr13:95222800-95239600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr13:95223000-95235400	Strong transcription	HUVEC	blood vessel
49	chr13:95223000-95235600	Strong transcription	Rectal Smooth Muscle	rectum
50	chr13:95223000-95245800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links