Variant report

Variant	esv3420791
Chromosome Location	chr13:79946451-79948499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:79945909..79948690-chr13:79954494..79956111,2	K562	blood:
2	chr13:79940489..79942669-chr13:79947874..79950241,2	MCF-7	breast:
3	chr13:79944448..79946891-chr13:79951431..79952941,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139746	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534843424	chr13:79946484-79946485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554790761	chr13:79946499-79946500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540250850	chr13:79946502-79946503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9530906	chr13:79946536-79946537	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs9601221	chr13:79946540-79946541	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371431436	chr13:79946570-79946571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370285838	chr13:79946610-79946611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563537168	chr13:79946612-79946613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577128704	chr13:79946647-79946648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140287904	chr13:79946648-79946649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144315806	chr13:79946657-79946658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188042068	chr13:79946659-79946660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548415150	chr13:79946738-79946739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147785861	chr13:79946751-79946752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529753107	chr13:79946782-79946783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35522365	chr13:79946784-79946785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543962275	chr13:79946806-79946807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374703454	chr13:79946808-79946809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7994127	chr13:79946828-79946829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112439153	chr13:79946830-79946831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538598711	chr13:79946834-79946835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10635224	chr13:79946929-79946930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34958966	chr13:79946930-79946931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56723093	chr13:79946933-79946934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369567214	chr13:79946934-79946935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372619751	chr13:79946935-79946936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61528497	chr13:79946978-79946979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9565494	chr13:79946983-79946984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557565212	chr13:79947002-79947003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372690426	chr13:79947006-79947007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56932401	chr13:79947009-79947010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71436684	chr13:79947020-79947021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9593393	chr13:79947029-79947030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9601223	chr13:79947056-79947057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181788955	chr13:79947060-79947061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543272920	chr13:79947068-79947069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184387942	chr13:79947095-79947096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188780357	chr13:79947099-79947100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12867731	chr13:79947125-79947126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186338813	chr13:79947134-79947135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10524519	chr13:79947135-79947136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180809627	chr13:79947138-79947139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58321665	chr13:79947142-79947143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56699316	chr13:79947145-79947146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60775982	chr13:79947153-79947154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61251413	chr13:79947161-79947162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58549863	chr13:79947164-79947165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58693996	chr13:79947167-79947168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59172204	chr13:79947177-79947178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12868784	chr13:79947178-79947179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
abnormal development	18461090	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Schizophrenia	19197363	CNVD
Prostate cancer	22341455	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79886600-79950200	Weak transcription	Fetal Brain Male	brain
2	chr13:79887200-79946600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr13:79888200-79947000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr13:79888400-79947000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr13:79891600-79946800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:79891600-79947000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr13:79891600-79947000	Strong transcription	Dnd41	blood
8	chr13:79893200-79957800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:79894400-79950200	Weak transcription	Stomach Mucosa	stomach
10	chr13:79921200-79947000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:79921600-79946800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:79922400-79947000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:79922800-79946600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr13:79923000-79950600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr13:79923200-79946800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:79924000-79947000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr13:79924400-79947000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr13:79925600-79947000	Strong transcription	Fetal Intestine Large	intestine
19	chr13:79926800-79947000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:79930800-79946800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:79932200-79946600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr13:79935200-79946600	Strong transcription	Fetal Muscle Leg	muscle
23	chr13:79935400-79947000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:79935800-79946800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:79936000-79946800	Strong transcription	HSMM	muscle
26	chr13:79936800-79946800	Strong transcription	A549	lung
27	chr13:79936800-79948600	Weak transcription	Fetal Heart	heart
28	chr13:79937600-79946800	Strong transcription	HepG2	liver
29	chr13:79937800-79946800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr13:79938000-79947000	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr13:79938200-79946800	Strong transcription	GM12878-XiMat	blood
32	chr13:79938600-79947000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr13:79940200-79946800	Strong transcription	NHEK	skin
34	chr13:79941200-79948000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr13:79941200-79950200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:79941200-79951000	Weak transcription	Aorta	Aorta
37	chr13:79941800-79956600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr13:79942000-79950200	Weak transcription	Small Intestine	intestine
39	chr13:79942000-79950400	Weak transcription	Gastric	stomach
40	chr13:79942000-79967400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:79942400-79948200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:79942400-79948200	Weak transcription	Right Ventricle	heart
43	chr13:79942400-79950600	Weak transcription	Pancreas	Pancrea
44	chr13:79943000-79946800	Strong transcription	Colonic Mucosa	Colon
45	chr13:79943000-79957800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr13:79943200-79947000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:79943800-79948000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr13:79944000-79946800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr13:79944400-79950400	Weak transcription	Spleen	Spleen
50	chr13:79944400-79951000	Weak transcription	Esophagus	oesophagus

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