Variant report

Variant	esv3330376
Chromosome Location	chr13:79945976-79948724
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: 166 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs201247591	chr13:79945988-79945989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374936602	chr13:79945999-79946000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200762183	chr13:79946062-79946063	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs148731318	chr13:79946065-79946066	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200663693	chr13:79946069-79946070	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs61966655	chr13:79946070-79946071	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111251938	chr13:79946071-79946072	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs369797909	chr13:79946072-79946073	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75080993	chr13:79946073-79946074	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs9545093	chr13:79946104-79946105	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs527523861	chr13:79946135-79946136	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs574967340	chr13:79946158-79946159	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs7325232	chr13:79946163-79946164	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563693914	chr13:79946189-79946190	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532740098	chr13:79946197-79946198	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs552790228	chr13:79946203-79946204	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183971905	chr13:79946204-79946205	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575365617	chr13:79946211-79946212	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528632577	chr13:79946212-79946213	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75489608	chr13:79946311-79946312	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567055761	chr13:79946313-79946314	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535932750	chr13:79946329-79946330	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9530905	chr13:79946335-79946336	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs569584668	chr13:79946337-79946338	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538564574	chr13:79946383-79946384	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572735070	chr13:79946395-79946396	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558780042	chr13:79946419-79946420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74442218	chr13:79946433-79946434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572293077	chr13:79946436-79946437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534843424	chr13:79946484-79946485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554790761	chr13:79946499-79946500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540250850	chr13:79946502-79946503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9530906	chr13:79946536-79946537	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs9601221	chr13:79946540-79946541	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371431436	chr13:79946570-79946571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370285838	chr13:79946610-79946611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563537168	chr13:79946612-79946613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577128704	chr13:79946647-79946648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140287904	chr13:79946648-79946649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144315806	chr13:79946657-79946658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188042068	chr13:79946659-79946660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548415150	chr13:79946738-79946739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147785861	chr13:79946751-79946752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529753107	chr13:79946782-79946783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35522365	chr13:79946784-79946785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543962275	chr13:79946806-79946807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374703454	chr13:79946808-79946809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7994127	chr13:79946828-79946829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112439153	chr13:79946830-79946831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538598711	chr13:79946834-79946835	Weak transcription Strong 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:309 , 50 per page) page: 1 2 3 4 5 6 7

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	chr13:79899000-79946400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:79921200-79947000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr13:79921600-79946800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:79922400-79947000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:79922800-79946600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr13:79923000-79950600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr13:79923200-79946800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:79923800-79946400	Strong transcription	Fetal Thymus	thymus
18	chr13:79924000-79947000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr13:79924400-79946200	Strong transcription	Placenta	Placenta
20	chr13:79924400-79947000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr13:79924800-79946400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:79925000-79946200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr13:79925600-79946400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr13:79925600-79947000	Strong transcription	Fetal Intestine Large	intestine
25	chr13:79926000-79946400	Strong transcription	Adipose Nuclei	Adipose
26	chr13:79926400-79946400	Strong transcription	Fetal Lung	lung
27	chr13:79926800-79946400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:79926800-79947000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:79930200-79946200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr13:79930600-79946000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:79930800-79946800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:79932200-79946600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr13:79932400-79946400	Strong transcription	HUVEC	blood vessel
34	chr13:79934800-79946200	Strong transcription	HMEC	breast
35	chr13:79934800-79946400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr13:79935200-79946600	Strong transcription	Fetal Muscle Leg	muscle
37	chr13:79935400-79946000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr13:79935400-79946200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr13:79935400-79946200	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr13:79935400-79946400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr13:79935400-79947000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:79935600-79946400	Strong transcription	Liver	Liver
43	chr13:79935600-79946400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr13:79935800-79946200	Strong transcription	Hela-S3	cervix
45	chr13:79935800-79946800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:79936000-79946400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr13:79936000-79946800	Strong transcription	HSMM	muscle
48	chr13:79936200-79946400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr13:79936400-79946400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr13:79936600-79946400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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