Variant report

Variant	esv1851668
Chromosome Location	chr13:38928976-38948851
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:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:38915558..38922004-chr13:38925835..38933064,8	K562	blood:
2	chr13:38929120..38930872-chr13:38933136..38936184,3	K562	blood:
3	chr13:38937794..38939477-chr13:38941816..38944782,2	K562	blood:
4	chr13:38923235..38925039-chr13:38934003..38935913,2	K562	blood:
5	chr13:38928524..38930936-chr13:38934503..38937982,3	K562	blood:
6	chr13:38931254..38934078-chr13:38935864..38939575,4	K562	blood:
7	chr13:38929120..38930872-chr13:38933136..38936184,3	K562	blood:
8	chr13:38928713..38933480-chr13:38933569..38937832,7	MCF-7	breast:
9	chr13:38924316..38926531-chr13:38938318..38940718,2	MCF-7	breast:
10	chr13:38913197..38918401-chr13:38928849..38932713,4	K562	blood:
11	chr13:38931254..38934078-chr13:38935864..38939575,4	K562	blood:
12	chr13:38928713..38933480-chr13:38933569..38937832,7	MCF-7	breast:
13	chr13:38923241..38925900-chr13:38946340..38949227,2	MCF-7	breast:
14	chr13:38923066..38925606-chr13:38931554..38933127,2	MCF-7	breast:
15	chr13:38937794..38939477-chr13:38941816..38944782,2	K562	blood:
16	chr13:36918448..36921379-chr13:38939696..38941798,2	MCF-7	breast:
17	chr13:38928524..38930936-chr13:38934503..38937982,3	K562	blood:
18	chr13:38926354..38928723-chr13:38929621..38932377,2	MCF-7	breast:
19	chr13:38919358..38926299-chr13:38929248..38934915,10	MCF-7	breast:
20	chr13:38922928..38925476-chr13:38947083..38949963,2	MCF-7	breast:
21	chr13:38936992..38939468-chr13:38949359..38952511,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UFM1-9	chr13:38946993-38948072	NONHSAT033274

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	UFM1	hsa-miR-30a-5p	chr13:38934740-38934759

Variant related genes	Relation type
ENSG00000133104	chromatin interactions
ENSG00000120664	chromatin interactions
ENSG00000120686	chromatin interactions

Extended variants
information (count: 748 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:748 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9888482	chr13:38928976-38928977	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575896666	chr13:38929017-38929018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544551115	chr13:38929027-38929028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192331733	chr13:38929028-38929029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78297667	chr13:38929052-38929053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141704026	chr13:38929055-38929056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559418370	chr13:38929067-38929068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145969166	chr13:38929070-38929071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376370839	chr13:38929087-38929088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139721259	chr13:38929149-38929150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374412893	chr13:38929154-38929155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113469103	chr13:38929174-38929175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550929695	chr13:38929185-38929186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2455409	chr13:38929299-38929300	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142942699	chr13:38929319-38929320	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546444408	chr13:38929324-38929325	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566965385	chr13:38929337-38929338	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538711780	chr13:38929359-38929360	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559005470	chr13:38929360-38929361	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75307954	chr13:38929385-38929386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149839852	chr13:38929414-38929415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554868860	chr13:38929440-38929441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574762355	chr13:38929478-38929479	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184010492	chr13:38929511-38929512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs73176730	chr13:38929515-38929516	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577368662	chr13:38929655-38929656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544820324	chr13:38929674-38929675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74047551	chr13:38929738-38929739	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542688567	chr13:38929745-38929746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560989284	chr13:38929904-38929905	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145715781	chr13:38929960-38929961	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561183377	chr13:38930002-38930003	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188902490	chr13:38930022-38930023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs114028779	chr13:38930028-38930029	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554364443	chr13:38930030-38930031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2481879	chr13:38930034-38930035	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs74868151	chr13:38930053-38930054	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148504787	chr13:38930093-38930094	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10507470	chr13:38930100-38930101	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532402257	chr13:38930113-38930114	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537868933	chr13:38930168-38930169	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547311507	chr13:38930176-38930177	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192631040	chr13:38930190-38930191	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529799521	chr13:38930243-38930244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184420646	chr13:38930276-38930277	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs118118396	chr13:38930292-38930293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554440075	chr13:38930296-38930297	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188397522	chr13:38930386-38930387	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577400547	chr13:38930409-38930410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546358900	chr13:38930415-38930416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	17440070	CNVD

Chromatin state (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38924400-38938800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:38924800-38936400	Weak transcription	Esophagus	oesophagus
3	chr13:38924800-38937000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:38924800-38937200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:38924800-38937400	Weak transcription	Gastric	stomach
6	chr13:38924800-38939000	Weak transcription	Lung	lung
7	chr13:38924800-38939400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:38925000-38936800	Weak transcription	Aorta	Aorta
9	chr13:38925000-38937400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:38925200-38929000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:38925200-38939600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:38925400-38929000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:38925400-38931800	Strong transcription	Placenta	Placenta
14	chr13:38925400-38934800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr13:38925400-38937200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:38925400-38937200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:38925400-38937800	Weak transcription	Pancreas	Pancrea
18	chr13:38925600-38929000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr13:38925600-38929000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:38925600-38931000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:38925600-38931800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr13:38925600-38937800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:38925600-38938000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:38925600-38938000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:38925600-38939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:38925800-38930000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr13:38925800-38931400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr13:38925800-38931800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr13:38925800-38935600	Weak transcription	Stomach Mucosa	stomach
30	chr13:38925800-38935800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:38925800-38938400	Weak transcription	Fetal Stomach	stomach
32	chr13:38925800-38939000	Weak transcription	Spleen	Spleen
33	chr13:38925800-38939400	Weak transcription	Thymus	Thymus
34	chr13:38925800-38939800	Weak transcription	Small Intestine	intestine
35	chr13:38926000-38929000	Weak transcription	Fetal Brain Female	brain
36	chr13:38926000-38929200	Weak transcription	Colon Smooth Muscle	Colon
37	chr13:38926000-38929200	Weak transcription	A549	lung
38	chr13:38926000-38929600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr13:38926000-38930000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr13:38926000-38931800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr13:38926000-38932200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr13:38926000-38933000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:38926000-38933600	Strong transcription	Primary B cells from cord blood	blood
44	chr13:38926000-38935000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr13:38926000-38935800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:38926000-38937200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr13:38926000-38937200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:38926000-38937600	Weak transcription	Colonic Mucosa	Colon
49	chr13:38926000-38937600	Strong transcription	HMEC	breast
50	chr13:38926000-38938000	Strong transcription	Osteobl	bone

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