Variant report

Variant	nsv974015
Chromosome Location	chr13:51826569-51831493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51820571..51823207-chr13:51824938..51826606,2	MCF-7	breast:
2	chr13:51825741..51827924-chr13:51832786..51834447,2	MCF-7	breast:
3	chr13:51828873..51831199-chr13:51831782..51833897,3	K562	blood:
4	chr13:51831458..51831963-chr13:51860269..51861205,2	MCF-7	breast:
5	chr13:51823005..51824634-chr13:51826907..51829681,2	K562	blood:
6	chr13:51828567..51831393-chr13:51834161..51836601,2	K562	blood:

Extended variants
information (count: 181 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186582327	chr13:51826580-51826581	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs8000525	chr13:51826602-51826603	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs8002148	chr13:51826638-51826639	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2282371	chr13:51826643-51826644	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570870282	chr13:51826735-51826736	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538798102	chr13:51826737-51826738	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs8000881	chr13:51826739-51826740	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs8000883	chr13:51826744-51826745	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146707558	chr13:51826782-51826783	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546288367	chr13:51826791-51826792	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574475927	chr13:51826795-51826796	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543209732	chr13:51826833-51826834	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148819437	chr13:51826887-51826888	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373616805	chr13:51826896-51826897	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs8001715	chr13:51826954-51826955	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs8001927	chr13:51827070-51827071	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559821495	chr13:51827145-51827146	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192056240	chr13:51827183-51827184	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143460168	chr13:51827214-51827215	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556855488	chr13:51827259-51827260	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76397547	chr13:51827326-51827327	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183852001	chr13:51827375-51827376	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535336558	chr13:51827394-51827395	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541893267	chr13:51827402-51827403	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562192492	chr13:51827474-51827475	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147986639	chr13:51827485-51827486	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551189403	chr13:51827491-51827492	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187590079	chr13:51827494-51827495	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533587465	chr13:51827593-51827594	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs15652	chr13:51827606-51827607	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs189664263	chr13:51827613-51827614	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534586673	chr13:51827638-51827639	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554314563	chr13:51827705-51827706	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567805257	chr13:51827719-51827720	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182103038	chr13:51827726-51827727	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556641699	chr13:51827814-51827815	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186735449	chr13:51827858-51827859	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34265389	chr13:51827897-51827898	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140864014	chr13:51827910-51827911	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146174081	chr13:51827927-51827928	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553216771	chr13:51828000-51828001	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12428775	chr13:51828007-51828008	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573085947	chr13:51828014-51828015	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191499988	chr13:51828029-51828030	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74545291	chr13:51828050-51828051	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs386770984	chr13:51828081-51828082	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201581358	chr13:51828082-51828083	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564584520	chr13:51828084-51828085	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533547361	chr13:51828085-51828086	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546904103	chr13:51828117-51828118	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51816200-51836600	Weak transcription	Adipose Nuclei	Adipose
2	chr13:51816800-51836000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:51817400-51827200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:51817600-51827200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:51817800-51827600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:51818800-51832800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:51820800-51833000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:51821200-51829600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:51821400-51827200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr13:51821400-51829600	Weak transcription	Right Atrium	heart
11	chr13:51821400-51833200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:51821400-51833800	Weak transcription	Gastric	stomach
13	chr13:51821600-51836200	Weak transcription	Fetal Muscle Leg	muscle
14	chr13:51821600-51839000	Weak transcription	Esophagus	oesophagus
15	chr13:51821600-51845000	Weak transcription	Fetal Brain Male	brain
16	chr13:51821800-51831400	Weak transcription	Fetal Lung	lung
17	chr13:51822200-51833200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:51822600-51831000	Enhancers	Fetal Heart	heart
19	chr13:51823400-51827800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:51824200-51828200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr13:51824200-51844000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:51824400-51827800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:51824400-51836600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:51824600-51827200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:51824800-51827000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr13:51824800-51827200	Strong transcription	Fetal Brain Female	brain
27	chr13:51824800-51828000	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr13:51825000-51826600	Strong transcription	Fetal Stomach	stomach
29	chr13:51825000-51828000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:51825000-51829000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr13:51825000-51833000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:51825200-51828000	Weak transcription	Right Ventricle	heart
33	chr13:51825200-51832800	Weak transcription	Fetal Thymus	thymus
34	chr13:51825200-51833200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr13:51825400-51826600	Strong transcription	Brain Germinal Matrix	brain
36	chr13:51825400-51828200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr13:51825400-51840600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr13:51825600-51826600	Strong transcription	Spleen	Spleen
39	chr13:51825600-51827000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:51825600-51827000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr13:51825600-51827000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:51825600-51827200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr13:51825600-51827600	Weak transcription	Colon Smooth Muscle	Colon
44	chr13:51825600-51828000	Genic enhancers	Brain Hippocampus Middle	brain
45	chr13:51825600-51829400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr13:51825800-51826600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr13:51825800-51826600	Strong transcription	Left Ventricle	heart
48	chr13:51825800-51826600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr13:51825800-51826800	Strong transcription	Brain Cingulate Gyrus	brain
50	chr13:51825800-51827000	Strong transcription	Brain Angular Gyrus	brain

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