Variant report

Variant	esv3397600
Chromosome Location	chr13:79947176-79949424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000139746	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59172204	chr13:79947177-79947178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12868784	chr13:79947178-79947179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59528079	chr13:79947185-79947186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191127826	chr13:79947212-79947213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183270758	chr13:79947216-79947217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200685180	chr13:79947291-79947292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375791377	chr13:79947293-79947294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201884929	chr13:79947364-79947365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552182877	chr13:79947408-79947409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186141348	chr13:79947419-79947420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190614296	chr13:79947503-79947504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182811533	chr13:79947505-79947506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187911206	chr13:79947519-79947520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566016310	chr13:79947536-79947537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534909182	chr13:79947538-79947539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369691957	chr13:79947559-79947560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10660712	chr13:79947564-79947565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375917543	chr13:79947565-79947566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369024045	chr13:79947569-79947570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551155962	chr13:79947573-79947574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372382521	chr13:79947598-79947599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372564693	chr13:79947603-79947604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376849853	chr13:79947607-79947608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377437951	chr13:79947608-79947609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369179684	chr13:79947614-79947615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373934860	chr13:79947615-79947616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377611110	chr13:79947616-79947617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370875246	chr13:79947619-79947620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192769218	chr13:79947630-79947631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557188168	chr13:79947648-79947649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8001548	chr13:79947667-79947668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs8001549	chr13:79947668-79947669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11616759	chr13:79947682-79947683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187738001	chr13:79947708-79947709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8001739	chr13:79947774-79947775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200569658	chr13:79947784-79947785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs8000251	chr13:79947789-79947790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192535382	chr13:79947799-79947800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557393317	chr13:79947813-79947814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11372925	chr13:79947834-79947835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532123942	chr13:79947836-79947837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71106092	chr13:79947849-79947850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577243421	chr13:79947852-79947853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559148415	chr13:79947876-79947877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10673883	chr13:79947889-79947890	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546212427	chr13:79947984-79947985	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11620233	chr13:79948006-79948007	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs563215803	chr13:79948015-79948016	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558968809	chr13:79948019-79948020	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368388445	chr13:79948043-79948044	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	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:226 , 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	chr13:79893200-79957800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:79894400-79950200	Weak transcription	Stomach Mucosa	stomach
4	chr13:79923000-79950600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:79936800-79948600	Weak transcription	Fetal Heart	heart
6	chr13:79941200-79948000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:79941200-79950200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:79941200-79951000	Weak transcription	Aorta	Aorta
9	chr13:79941800-79956600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr13:79942000-79950200	Weak transcription	Small Intestine	intestine
11	chr13:79942000-79950400	Weak transcription	Gastric	stomach
12	chr13:79942000-79967400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:79942400-79948200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:79942400-79948200	Weak transcription	Right Ventricle	heart
15	chr13:79942400-79950600	Weak transcription	Pancreas	Pancrea
16	chr13:79943000-79957800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:79943800-79948000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:79944400-79950400	Weak transcription	Spleen	Spleen
19	chr13:79944400-79951000	Weak transcription	Esophagus	oesophagus
20	chr13:79944800-79950200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:79944800-79950200	Weak transcription	Brain Angular Gyrus	brain
22	chr13:79945000-79949400	Weak transcription	Brain Hippocampus Middle	brain
23	chr13:79945200-79948200	Weak transcription	Fetal Brain Female	brain
24	chr13:79945200-79950400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:79945400-79948000	Weak transcription	K562	blood
26	chr13:79945400-79948200	Weak transcription	Fetal Stomach	stomach
27	chr13:79945400-79948200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:79945400-79949600	Weak transcription	Brain Germinal Matrix	brain
29	chr13:79945400-79950600	Weak transcription	Brain Substantia Nigra	brain
30	chr13:79945800-79948800	Weak transcription	Brain Anterior Caudate	brain
31	chr13:79946000-79948000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:79946000-79948000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr13:79946000-79948400	Weak transcription	Psoas Muscle	Psoas
34	chr13:79946000-79949400	Weak transcription	NH-A	brain
35	chr13:79946000-79949600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr13:79946000-79949600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:79946000-79950000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr13:79946000-79950000	Weak transcription	Colon Smooth Muscle	Colon
39	chr13:79946000-79960000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr13:79946200-79948000	Weak transcription	Primary B cells from cord blood	blood
41	chr13:79946200-79948000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr13:79946200-79948000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr13:79946200-79948000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr13:79946200-79948000	Weak transcription	NHDF-Ad	bronchial
45	chr13:79946200-79948200	Weak transcription	Hela-S3	cervix
46	chr13:79946200-79949400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr13:79946200-79949400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr13:79946200-79949600	Weak transcription	Placenta	Placenta
49	chr13:79946200-79950000	Weak transcription	HMEC	breast
50	chr13:79946200-79950000	Weak transcription	HSMMtube	muscle

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