Variant report

Variant	nsv1038
Chromosome Location	chr13:50324773-50359990
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:34)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50349733..50352662-chr13:50364217..50367183,2	MCF-7	breast:
2	chr13:50358890..50362545-chr13:50364885..50368463,3	MCF-7	breast:
3	chr13:50351267..50358317-chr13:50361760..50368621,11	MCF-7	breast:
4	chr13:50355831..50356830-chr2:88315555..88316458,5	HCT-116	colon:
5	chr13:50341914..50345119-chr13:50364352..50368187,3	K562	blood:
6	chr13:50346317..50348509-chr13:50365668..50368332,3	MCF-7	breast:
7	chr13:50354262..50357450-chr13:50365165..50368235,4	MCF-7	breast:
8	chr13:50303610..50306425-chr13:50331002..50333456,2	MCF-7	breast:
9	chr13:50349371..50350894-chr13:50365184..50367283,2	MCF-7	breast:
10	chr13:50344891..50347540-chr13:50347984..50350417,3	MCF-7	breast:
11	chr13:50353952..50356065-chr13:50366891..50368396,2	K562	blood:
12	chr13:50318990..50321781-chr13:50323310..50326144,3	MCF-7	breast:
13	chr13:50355140..50356719-chr13:50358517..50361245,2	K562	blood:
14	chr13:50344891..50347540-chr13:50347984..50350417,3	MCF-7	breast:
15	chr13:50343988..50346114-chr13:50354388..50356703,2	MCF-7	breast:
16	chr13:50337999..50340352-chr13:50345226..50347433,2	K562	blood:
17	chr13:50337999..50340352-chr13:50345226..50347433,2	K562	blood:
18	chr13:50344680..50346615-chr13:50348215..50350445,3	K562	blood:
19	chr13:50356537..50357037-chr6:3162463..3163116,2	Hela-S3	cervix:
20	chr13:50354831..50356349-chr2:88314645..88316528,3	MCF-7	breast:
21	chr13:50343988..50346114-chr13:50354388..50356703,2	MCF-7	breast:
22	chr13:50339282..50341769-chr13:50347663..50349184,2	K562	blood:
23	chr13:50354831..50356331-chr2:88314615..88316179,2	MCF-7	breast:
24	chr13:50339282..50341769-chr13:50347663..50349184,2	K562	blood:
25	chr13:50353952..50356352-chr13:50366009..50368396,2	K562	blood:
26	chr13:50355831..50356849-chr2:88315612..88316417,3	Hela-S3	cervix:
27	chr13:50337068..50338676-chr13:50348072..50349977,2	MCF-7	breast:
28	chr13:50337068..50338676-chr13:50348072..50349977,2	MCF-7	breast:
29	chr13:50356308..50362290-chr13:50362376..50368273,10	K562	blood:
30	chr13:50355140..50356719-chr13:50358517..50361245,2	K562	blood:
31	chr13:50352653..50354938-chr13:50357340..50359158,2	MCF-7	breast:
32	chr13:50244133..50245695-chr13:50352710..50354837,2	MCF-7	breast:
33	chr13:50352653..50354938-chr13:50357340..50359158,2	MCF-7	breast:
34	chr13:50344680..50346615-chr13:50348215..50350445,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EBPL-2	chr13:50354494-50354616	l_841_chr13:50354493-50361781_adrenal
2	lnc-EBPL-2	chr13:50354651-50354767	ENSG00000224798.1
3	lnc-EBPL-2	chr13:50354633-50354782	l_841_chr13:50354493-50361781_adrenal
4	lnc-EBPL-2	chr13:50351804-50354609	ENSG00000224798.1

No data

Variant related genes	Relation type
ENSG00000102753	chromatin interactions
ENSG00000222724	chromatin interactions

Extended variants
information (count: 1242 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:1242 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537749792	chr13:50324776-50324777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558981785	chr13:50324777-50324778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570862789	chr13:50324824-50324825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554572466	chr13:50324847-50324848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370047275	chr13:50324848-50324849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548800993	chr13:50324865-50324866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373130671	chr13:50324866-50324867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534999902	chr13:50324868-50324869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374201723	chr13:50324876-50324877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528941014	chr13:50324956-50324957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573840013	chr13:50324964-50324965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575007775	chr13:50324990-50324991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140516515	chr13:50325015-50325016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181016974	chr13:50325051-50325052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2897770	chr13:50325070-50325071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs546126668	chr13:50325268-50325269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185685357	chr13:50325279-50325280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12584560	chr13:50325324-50325325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs568213399	chr13:50325328-50325329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539823279	chr13:50325355-50325356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190356677	chr13:50325358-50325359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528974218	chr13:50325398-50325399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368687799	chr13:50325420-50325421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112161719	chr13:50325440-50325441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563951471	chr13:50325458-50325459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531000152	chr13:50325476-50325477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201297623	chr13:50325481-50325482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375665227	chr13:50325517-50325518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187020681	chr13:50325535-50325536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571033865	chr13:50325541-50325542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191858209	chr13:50325579-50325580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140326353	chr13:50325609-50325610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184056738	chr13:50325610-50325611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547235958	chr13:50325645-50325646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9535319	chr13:50325647-50325648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs9535320	chr13:50325674-50325675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572198329	chr13:50325700-50325701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557172079	chr13:50325733-50325734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9535321	chr13:50325811-50325812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs539243312	chr13:50325901-50325902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560977729	chr13:50326071-50326072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187453793	chr13:50326093-50326094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572826192	chr13:50326117-50326118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189688746	chr13:50326150-50326151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77408823	chr13:50326174-50326175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550400533	chr13:50326181-50326182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561359432	chr13:50326207-50326208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7993281	chr13:50326242-50326243	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138323686	chr13:50326272-50326273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562424229	chr13:50326294-50326295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Breast cancer	17899364	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
Alveolar rhabdomyosarcoma	16790082	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
Congenital anomalies of the kidney and urinary tract	20467480	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
Sezary syndrome	18413736	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:691 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
2	chr13:50273200-50326000	Weak transcription	Aorta	Aorta
3	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:50290000-50334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr13:50293200-50326000	Weak transcription	Fetal Brain Male	brain
6	chr13:50294400-50333000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:50296200-50330400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:50296600-50330400	Weak transcription	Small Intestine	intestine
9	chr13:50296600-50338600	Weak transcription	Ovary	ovary
10	chr13:50298000-50327600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:50299200-50327600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr13:50300600-50345600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:50301200-50327800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr13:50302800-50333800	Weak transcription	Thymus	Thymus
15	chr13:50303200-50334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:50306000-50351600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:50306200-50334200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr13:50306200-50336200	Weak transcription	Adipose Nuclei	Adipose
19	chr13:50306800-50333800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr13:50308000-50356000	Weak transcription	Fetal Kidney	kidney
21	chr13:50308200-50327400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr13:50308200-50327600	Weak transcription	Lung	lung
23	chr13:50314800-50327600	Weak transcription	Gastric	stomach
24	chr13:50315200-50336000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr13:50317600-50343600	Weak transcription	Primary T cells from cord blood	blood
26	chr13:50318800-50333800	Weak transcription	NH-A	brain
27	chr13:50319600-50333600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr13:50319600-50334800	Weak transcription	Fetal Lung	lung
29	chr13:50320000-50333600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr13:50320000-50333600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr13:50320000-50333600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr13:50320200-50327600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:50320400-50325800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:50320400-50336800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:50320600-50325600	Weak transcription	Spleen	Spleen
36	chr13:50320600-50326200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr13:50320600-50327600	Weak transcription	Liver	Liver
38	chr13:50320600-50327600	Weak transcription	Pancreas	Pancrea
39	chr13:50320600-50327800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr13:50320600-50332200	Weak transcription	Fetal Muscle Leg	muscle
41	chr13:50320600-50332600	Weak transcription	Fetal Brain Female	brain
42	chr13:50320600-50333000	Weak transcription	Fetal Intestine Large	intestine
43	chr13:50320600-50333600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:50320600-50333600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:50320600-50333600	Weak transcription	Fetal Intestine Small	intestine
46	chr13:50320600-50333800	Weak transcription	Brain Hippocampus Middle	brain
47	chr13:50320600-50333800	Weak transcription	Fetal Stomach	stomach
48	chr13:50320600-50334800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:50320600-50334800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr13:50320600-50337400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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