Variant report

Variant	nsv900928
Chromosome Location	chr13:95929326-95946640
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:95935600..95938321-chr13:95941530..95943293,2	K562	blood:
2	chr13:95929149..95932336-chr13:95935085..95938343,4	K562	blood:
3	chr13:95941801..95944628-chr13:95951668..95954377,2	MCF-7	breast:
4	chr13:95931327..95933216-chr13:95948298..95949937,2	K562	blood:
5	chr13:95935600..95938321-chr13:95941530..95943293,2	K562	blood:
6	chr13:95845563..95847405-chr13:95944839..95947304,2	K562	blood:
7	chr13:95929149..95932336-chr13:95935085..95938343,4	K562	blood:
8	chr13:95922109..95924473-chr13:95936856..95939759,2	K562	blood:
9	chr13:95927378..95929483-chr13:95944855..95946497,2	K562	blood:
10	chr13:95927378..95929483-chr13:95944855..95946497,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000125257	chromatin interactions

Extended variants
information (count: 733 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:733 , 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	rs201497451	chr13:95929326-95929327	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144460570	chr13:95929345-95929346	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148397340	chr13:95929350-95929351	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75574575	chr13:95929358-95929359	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569453233	chr13:95929363-95929364	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527478057	chr13:95929393-95929394	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370021809	chr13:95929424-95929425	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182032686	chr13:95929438-95929439	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552561588	chr13:95929450-95929451	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145322456	chr13:95929496-95929497	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538370491	chr13:95929497-95929498	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555091467	chr13:95929534-95929535	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185700165	chr13:95929581-95929582	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190236278	chr13:95929597-95929598	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554367155	chr13:95929611-95929612	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111331635	chr13:95929617-95929618	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571666064	chr13:95929632-95929633	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112112843	chr13:95929691-95929692	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140517549	chr13:95929692-95929693	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556154809	chr13:95929703-95929704	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144363729	chr13:95929707-95929708	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561448279	chr13:95929708-95929709	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557405992	chr13:95929750-95929751	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2389233	chr13:95929796-95929797	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546224662	chr13:95929831-95929832	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs5805920	chr13:95929833-95929834	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77074585	chr13:95929834-95929835	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77642973	chr13:95929835-95929836	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79173485	chr13:95929846-95929847	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536753827	chr13:95929885-95929886	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4771910	chr13:95929888-95929889	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563909832	chr13:95929921-95929922	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117739187	chr13:95929943-95929944	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549790997	chr13:95929962-95929963	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569274091	chr13:95929984-95929985	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111675912	chr13:95929985-95929986	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180977993	chr13:95929988-95929989	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376562885	chr13:95930024-95930025	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4771911	chr13:95930072-95930073	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546094036	chr13:95930080-95930081	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377750963	chr13:95930236-95930237	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140515151	chr13:95930251-95930252	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557657147	chr13:95930308-95930309	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115248805	chr13:95930311-95930312	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548034507	chr13:95930322-95930323	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570937567	chr13:95930334-95930335	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540163194	chr13:95930337-95930338	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556572167	chr13:95930344-95930345	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71787479	chr13:95930365-95930366	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs58873875	chr13:95930366-95930367	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	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
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95913600-95932800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr13:95917000-95931400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:95919000-95930000	Weak transcription	Esophagus	oesophagus
4	chr13:95920200-95952800	Weak transcription	Aorta	Aorta
5	chr13:95923800-95941200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:95924200-95930800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr13:95924200-95932800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr13:95924600-95952600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr13:95924800-95932200	Weak transcription	HUVEC	blood vessel
10	chr13:95925800-95932200	Weak transcription	Psoas Muscle	Psoas
11	chr13:95926600-95952400	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:95926800-95931400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:95926800-95932800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr13:95926800-95948600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:95927000-95930200	Weak transcription	Right Atrium	heart
16	chr13:95927000-95930600	Weak transcription	Left Ventricle	heart
17	chr13:95927000-95930600	Weak transcription	Spleen	Spleen
18	chr13:95927000-95931400	Enhancers	K562	blood
19	chr13:95927000-95932000	Weak transcription	Right Ventricle	heart
20	chr13:95927000-95932800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:95927000-95937800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr13:95927000-95938000	Weak transcription	Colonic Mucosa	Colon
23	chr13:95927200-95932000	Weak transcription	Lung	lung
24	chr13:95927200-95941600	Weak transcription	Gastric	stomach
25	chr13:95927800-95930600	Weak transcription	Ovary	ovary
26	chr13:95927800-95932000	Weak transcription	Brain Anterior Caudate	brain
27	chr13:95928000-95930600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:95928000-95931000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr13:95928400-95930000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr13:95928400-95931200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:95928400-95931800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr13:95928400-95932000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:95928400-95932600	Weak transcription	HSMMtube	muscle
34	chr13:95928400-95932600	Weak transcription	NH-A	brain
35	chr13:95928400-95933800	Weak transcription	Fetal Kidney	kidney
36	chr13:95928400-95934000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:95928400-95937600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr13:95928400-95937800	Weak transcription	Fetal Intestine Small	intestine
39	chr13:95928600-95930600	Weak transcription	GM12878-XiMat	blood
40	chr13:95928600-95931800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr13:95928600-95932000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:95928600-95932200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr13:95928600-95932200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:95928600-95932200	Weak transcription	HSMM	muscle
45	chr13:95928600-95932800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:95928600-95932800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr13:95928600-95932800	Weak transcription	Osteobl	bone
48	chr13:95928600-95933000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:95928600-95933200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:95928800-95932200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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