Variant report

Variant	nsv819683
Chromosome Location	chr13:80127074-80129340
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	chr13:79978813..79981256-chr13:80124756..80127721,2	K562	blood:
2	chr13:80123748..80125276-chr13:80125653..80128359,2	K562	blood:

Variant related genes	Relation type
ENSG00000139746	chromatin interactions
ENSG00000227354	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41288270	chr13:80127160-80127161	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs74922628	chr13:80127175-80127176	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs562558750	chr13:80127221-80127222	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150468706	chr13:80127235-80127236	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545024325	chr13:80127246-80127247	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs116166707	chr13:80127252-80127253	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs565532040	chr13:80127294-80127295	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs34603928	chr13:80127342-80127343	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs71110004	chr13:80127353-80127354	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547655994	chr13:80127370-80127371	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs12585004	chr13:80127371-80127372	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529895949	chr13:80127375-80127376	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs34511187	chr13:80127379-80127380	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs566998377	chr13:80127442-80127443	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs700396	chr13:80127458-80127459	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs8000301	chr13:80127474-80127475	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs538702858	chr13:80127523-80127524	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370849898	chr13:80127536-80127537	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552177824	chr13:80127618-80127619	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs7981574	chr13:80127635-80127636	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187357067	chr13:80127721-80127722	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs74100740	chr13:80127749-80127750	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs41288272	chr13:80127838-80127839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537647837	chr13:80127918-80127919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537745185	chr13:80127950-80127951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537465061	chr13:80127962-80127963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557542407	chr13:80128002-80128003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576226853	chr13:80128011-80128012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556461280	chr13:80128064-80128065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191800517	chr13:80128070-80128071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183923591	chr13:80128126-80128127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375300709	chr13:80128159-80128160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545089815	chr13:80128268-80128269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558619794	chr13:80128289-80128290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188416304	chr13:80128317-80128318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149221742	chr13:80128335-80128336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561227113	chr13:80128405-80128406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529909045	chr13:80128536-80128537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1044647	chr13:80128544-80128545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34370878	chr13:80128560-80128561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192415007	chr13:80128582-80128583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563117692	chr13:80128598-80128599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532487836	chr13:80128611-80128612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554445829	chr13:80128620-80128621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9924	chr13:80128629-80128630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552229081	chr13:80128682-80128683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7988143	chr13:80128684-80128685	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs368435397	chr13:80128790-80128791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548246096	chr13:80128916-80128917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568739037	chr13:80128934-80128935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Ovarian clear cell carcinoma	21343371	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
2	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
3	chr13:80098600-80135000	Weak transcription	Placenta	Placenta
4	chr13:80099400-80133200	Weak transcription	Psoas Muscle	Psoas
5	chr13:80100600-80136400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:80100800-80133200	Weak transcription	Hela-S3	cervix
7	chr13:80101800-80133200	Weak transcription	Primary T cells from cord blood	blood
8	chr13:80102200-80133600	Weak transcription	Gastric	stomach
9	chr13:80104800-80133600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:80108400-80132200	Weak transcription	A549	lung
11	chr13:80109000-80129400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:80109000-80133200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr13:80109000-80133200	Weak transcription	HSMM	muscle
14	chr13:80109200-80133200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:80109600-80133200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:80109800-80128000	Weak transcription	NHDF-Ad	bronchial
17	chr13:80109800-80131600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:80110600-80133200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:80112600-80131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:80112600-80133200	Weak transcription	Osteobl	bone
21	chr13:80113200-80131600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:80113200-80133800	Weak transcription	Left Ventricle	heart
23	chr13:80114400-80130600	Weak transcription	NHEK	skin
24	chr13:80114400-80131600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr13:80114600-80131800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr13:80115000-80133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr13:80115200-80127800	Strong transcription	Dnd41	blood
28	chr13:80120200-80132000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:80120200-80134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:80122000-80133200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr13:80122200-80133000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:80123000-80131600	Weak transcription	Liver	Liver
33	chr13:80123000-80135000	Weak transcription	Stomach Mucosa	stomach
34	chr13:80123200-80129000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr13:80123600-80127400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:80124200-80129200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:80124200-80132600	Weak transcription	Fetal Kidney	kidney
38	chr13:80124200-80133000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:80124200-80133200	Weak transcription	Fetal Intestine Small	intestine
40	chr13:80124200-80133200	Weak transcription	HSMMtube	muscle
41	chr13:80124200-80133200	Weak transcription	NH-A	brain
42	chr13:80124200-80134200	Weak transcription	Fetal Intestine Large	intestine
43	chr13:80124400-80132200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:80124400-80133200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr13:80124800-80127200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr13:80126000-80131800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:80126400-80128000	Strong transcription	HMEC	breast
48	chr13:80126600-80127200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:80126800-80130000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr13:80127200-80131800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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