Variant report

Variant	nsv527566
Chromosome Location	chr13:96485609-96497070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:96488916..96491538-chr13:96492775..96495359,2	K562	blood:
2	chr13:96275890..96276432-chr13:96486160..96486773,2	MCF-7	breast:
3	chr13:96484418..96486030-chr13:96489191..96491096,2	MCF-7	breast:
4	chr13:96488916..96491538-chr13:96492775..96495359,2	K562	blood:
5	chr13:96275895..96276755-chr13:96486107..96487061,4	MCF-7	breast:
6	chr13:96484418..96486030-chr13:96489191..96491096,2	MCF-7	breast:
7	chr13:96275906..96276854-chr13:96486114..96486980,5	K562	blood:

Extended variants
information (count: 421 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3213931	chr13:96485609-96485610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184599902	chr13:96485629-96485630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137947534	chr13:96485636-96485637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79955239	chr13:96485678-96485679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563041955	chr13:96485692-96485693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142419443	chr13:96485712-96485713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372279168	chr13:96485736-96485737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537010514	chr13:96485798-96485799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187777561	chr13:96485829-96485830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557103845	chr13:96485898-96485899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376677963	chr13:96485899-96485900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368754141	chr13:96485929-96485930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567205334	chr13:96485941-96485942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59863382	chr13:96485956-96485957	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs193035259	chr13:96485963-96485964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548074552	chr13:96485969-96485970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558752917	chr13:96485976-96485977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540074127	chr13:96486039-96486040	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375559879	chr13:96486144-96486145	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs550098144	chr13:96486150-96486151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs569742945	chr13:96486152-96486153	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs59577050	chr13:96486185-96486186	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185143165	chr13:96486201-96486202	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565304812	chr13:96486221-96486222	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543893751	chr13:96486257-96486258	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190431494	chr13:96486274-96486275	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577855923	chr13:96486303-96486304	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181192094	chr13:96486320-96486321	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs556835217	chr13:96486371-96486372	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs144609275	chr13:96486375-96486376	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs74857755	chr13:96486390-96486391	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs185009805	chr13:96486446-96486447	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs527715367	chr13:96486451-96486452	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111700037	chr13:96486465-96486466	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs34111281	chr13:96486470-96486471	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs66537652	chr13:96486472-96486473	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs555482124	chr13:96486473-96486474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs397826141	chr13:96486489-96486490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs77241200	chr13:96486491-96486492	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs564840283	chr13:96486533-96486534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553334331	chr13:96486553-96486554	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs59810714	chr13:96486557-96486558	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550355527	chr13:96486559-96486560	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570125188	chr13:96486562-96486563	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529001476	chr13:96486633-96486634	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548705914	chr13:96486638-96486639	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372142296	chr13:96486688-96486689	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534360705	chr13:96486726-96486727	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557320040	chr13:96486744-96486745	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571525405	chr13:96486753-96486754	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96445800-96490000	Weak transcription	HepG2	liver
2	chr13:96452000-96490600	Weak transcription	Fetal Kidney	kidney
3	chr13:96466400-96486000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr13:96466600-96485800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:96466800-96485800	Weak transcription	Brain Anterior Caudate	brain
6	chr13:96467400-96490800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr13:96468200-96489800	Weak transcription	GM12878-XiMat	blood
8	chr13:96468800-96486000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:96476000-96502600	Weak transcription	Fetal Heart	heart
10	chr13:96476400-96489800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr13:96477400-96486000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:96478000-96486000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr13:96478000-96486000	Weak transcription	Adipose Nuclei	Adipose
14	chr13:96478000-96498200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:96478000-96502600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:96478000-96502600	Weak transcription	Left Ventricle	heart
17	chr13:96478000-96568400	Weak transcription	Placenta	Placenta
18	chr13:96478200-96485800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:96478200-96485800	Weak transcription	NH-A	brain
20	chr13:96478200-96486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr13:96478200-96486000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr13:96478200-96486000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:96478200-96486400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr13:96478200-96489200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:96478200-96489800	Weak transcription	Fetal Intestine Large	intestine
26	chr13:96478200-96489800	Weak transcription	Fetal Muscle Leg	muscle
27	chr13:96478200-96490000	Weak transcription	Brain Hippocampus Middle	brain
28	chr13:96478200-96490400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr13:96478200-96490400	Weak transcription	Liver	Liver
30	chr13:96478200-96490600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr13:96478200-96493600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr13:96478200-96495000	Weak transcription	Lung	lung
33	chr13:96478200-96502200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr13:96478200-96502600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:96478200-96502600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:96478200-96502600	Weak transcription	Aorta	Aorta
37	chr13:96478200-96502600	Weak transcription	Fetal Stomach	stomach
38	chr13:96478200-96502600	Weak transcription	Gastric	stomach
39	chr13:96478200-96502600	Weak transcription	Ovary	ovary
40	chr13:96478600-96491400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:96479800-96485800	Weak transcription	HSMM	muscle
42	chr13:96479800-96486000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr13:96479800-96489600	Weak transcription	Fetal Intestine Small	intestine
44	chr13:96480400-96486000	Weak transcription	HSMMtube	muscle
45	chr13:96480400-96488600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr13:96484800-96485800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr13:96485200-96486000	Enhancers	HUVEC	blood vessel
48	chr13:96485200-96486600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr13:96485400-96486400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:96485400-96486400	Enhancers	A549	lung

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