Variant report

Variant	nsv1012480
Chromosome Location	chr4:10691598-10708018
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	chr4:10689022..10690915-chr4:10701948..10704455,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRD5-5	chr4:10698747-10699285	XLOC_003452
2	lnc-DRD5-5	chr4:10693689-10693730	XLOC_003452
3	lnc-DRD5-5	chr4:10698747-10699189	NONHSAT095508

Variant related genes	Relation type
AKT3	miRNA target sites

Extended variants
information (count: 747 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:747 , 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	rs16872225	chr4:10691598-10691599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181112964	chr4:10691623-10691624	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139501383	chr4:10691649-10691650	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573648135	chr4:10691653-10691654	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373481774	chr4:10691674-10691675	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144323806	chr4:10691675-10691676	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566648465	chr4:10691690-10691691	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527748865	chr4:10691710-10691711	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549441952	chr4:10691745-10691746	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567376719	chr4:10691770-10691771	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186179111	chr4:10691771-10691772	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562556948	chr4:10691772-10691773	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556225630	chr4:10691774-10691775	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577695662	chr4:10691779-10691780	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147709378	chr4:10691802-10691803	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534362600	chr4:10691811-10691812	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140922852	chr4:10691867-10691868	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553774686	chr4:10691894-10691895	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75584059	chr4:10691922-10691923	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77345742	chr4:10691937-10691938	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554626006	chr4:10691938-10691939	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13147855	chr4:10691942-10691943	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11947083	chr4:10691957-10691958	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562847957	chr4:10691963-10691964	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533420720	chr4:10691979-10691980	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545018963	chr4:10691986-10691987	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189042319	chr4:10692011-10692012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117328045	chr4:10692013-10692014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549259429	chr4:10692014-10692015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182532152	chr4:10692018-10692019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531414119	chr4:10692027-10692028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549899889	chr4:10692064-10692065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571587227	chr4:10692082-10692083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144920962	chr4:10692125-10692126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547697235	chr4:10692128-10692129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565704215	chr4:10692130-10692131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115255250	chr4:10692150-10692151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145886996	chr4:10692198-10692199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576043479	chr4:10692202-10692203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113806657	chr4:10692238-10692239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148924206	chr4:10692305-10692306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186173294	chr4:10692313-10692314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545322769	chr4:10692314-10692315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560410583	chr4:10692336-10692337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572390569	chr4:10692339-10692340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542968937	chr4:10692340-10692341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143669766	chr4:10692384-10692385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531803082	chr4:10692424-10692425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550016374	chr4:10692504-10692505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202199936	chr4:10692533-10692534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10683600-10691600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:10686600-10692800	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:10688800-10693400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr4:10689200-10693600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:10689600-10692600	Enhancers	Primary B cells from cord blood	blood
6	chr4:10689600-10693400	Weak transcription	Ovary	ovary
7	chr4:10690000-10692600	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:10690000-10692600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:10690600-10692000	Enhancers	Thymus	Thymus
10	chr4:10690600-10692800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:10690800-10691600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr4:10690800-10692000	Enhancers	Fetal Thymus	thymus
13	chr4:10691000-10691600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr4:10691000-10691800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:10691000-10691800	Enhancers	Stomach Mucosa	stomach
16	chr4:10691000-10691800	Enhancers	Spleen	Spleen
17	chr4:10691200-10692400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:10691400-10692000	Flanking Active TSS	GM12878-XiMat	blood
19	chr4:10691600-10692000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr4:10691600-10692000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr4:10691800-10692000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:10691800-10692000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:10691800-10693000	Weak transcription	Stomach Mucosa	stomach
24	chr4:10692000-10692600	Enhancers	GM12878-XiMat	blood
25	chr4:10692000-10692600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr4:10692000-10693200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr4:10692000-10697200	Weak transcription	Fetal Thymus	thymus
28	chr4:10692000-10703000	Weak transcription	Thymus	Thymus
29	chr4:10692400-10694600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:10692600-10702000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:10693000-10693400	Enhancers	Stomach Mucosa	stomach
32	chr4:10693400-10694800	Weak transcription	Stomach Mucosa	stomach
33	chr4:10693400-10695400	Enhancers	Ovary	ovary
34	chr4:10693400-10696400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:10693800-10694000	Enhancers	Aorta	Aorta
36	chr4:10693800-10694200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr4:10694000-10699200	Weak transcription	Aorta	Aorta
38	chr4:10694200-10695400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:10694600-10696600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:10694800-10701200	Enhancers	Stomach Mucosa	stomach
41	chr4:10695000-10696800	Enhancers	Gastric	stomach
42	chr4:10695400-10695600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr4:10695400-10696000	Enhancers	NHEK	skin
44	chr4:10695400-10696400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr4:10695400-10700400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr4:10695400-10706000	Weak transcription	Ovary	ovary
47	chr4:10695600-10696000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr4:10695600-10696200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:10695600-10698200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr4:10695800-10696200	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links