Variant report

Variant	nsv997928
Chromosome Location	chr4:10703789-10728673
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:
2	chr4:10624055..10624663-chr4:10717565..10718180,2	MCF-7	breast:

Extended variants
information (count: 1132 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1132 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561185326	chr4:10703896-10703897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111355390	chr4:10703956-10703957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111515713	chr4:10703986-10703987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146291216	chr4:10703993-10703994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76574559	chr4:10704024-10704025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532725393	chr4:10704055-10704056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185267332	chr4:10704078-10704079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565591552	chr4:10704086-10704087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548040577	chr4:10704098-10704099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534145277	chr4:10704100-10704101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188942348	chr4:10704101-10704102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567500010	chr4:10704110-10704111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181389745	chr4:10704123-10704124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556571827	chr4:10704129-10704130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13120565	chr4:10704137-10704138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139522882	chr4:10704145-10704146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554264403	chr4:10704178-10704179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572541097	chr4:10704213-10704214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555303952	chr4:10704216-10704217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185621886	chr4:10704221-10704222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558714624	chr4:10704234-10704235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576297315	chr4:10704246-10704247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570005471	chr4:10704255-10704256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142870244	chr4:10704265-10704266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537066342	chr4:10704266-10704267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547049338	chr4:10704278-10704279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559037965	chr4:10704280-10704281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190039821	chr4:10704304-10704305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547879242	chr4:10704317-10704318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567562344	chr4:10704364-10704365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180824794	chr4:10704375-10704376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550453779	chr4:10704388-10704389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35419094	chr4:10704431-10704432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185924512	chr4:10704436-10704437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539040636	chr4:10704457-10704458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553915359	chr4:10704513-10704514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4547789	chr4:10704515-10704516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536787182	chr4:10704516-10704517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555089302	chr4:10704572-10704573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191973942	chr4:10704606-10704607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115174993	chr4:10704624-10704625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565206135	chr4:10704639-10704640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553259074	chr4:10704667-10704668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577029649	chr4:10704679-10704680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572496370	chr4:10704692-10704693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541302239	chr4:10704714-10704715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567858953	chr4:10704755-10704756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79745367	chr4:10704773-10704774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529632370	chr4:10704801-10704802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547891677	chr4:10704842-10704843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10695400-10706000	Weak transcription	Ovary	ovary
2	chr4:10698200-10706000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:10700800-10706000	Weak transcription	GM12878-XiMat	blood
4	chr4:10701600-10706200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:10701800-10705200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:10702000-10708600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:10702000-10709000	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:10703000-10704000	Enhancers	Thymus	Thymus
9	chr4:10703000-10706000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:10703000-10707000	Enhancers	HSMM	muscle
11	chr4:10703200-10704600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:10703200-10705400	Enhancers	NH-A	brain
13	chr4:10703200-10708200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:10703400-10703800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:10703400-10703800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:10703400-10704000	Enhancers	HMEC	breast
17	chr4:10703400-10704200	Enhancers	Fetal Thymus	thymus
18	chr4:10703400-10705200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:10703400-10708400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:10703600-10704600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:10703800-10704600	Enhancers	NHLF	lung
22	chr4:10704000-10706600	Enhancers	Osteobl	bone
23	chr4:10704200-10705600	Weak transcription	Fetal Thymus	thymus
24	chr4:10705200-10706000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:10705200-10707000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:10705400-10705800	Weak transcription	NH-A	brain
27	chr4:10705800-10706400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:10705800-10706600	Enhancers	NH-A	brain
29	chr4:10706000-10706200	Enhancers	Fetal Thymus	thymus
30	chr4:10706000-10706400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:10706000-10706400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:10706000-10706400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr4:10706000-10706400	Enhancers	GM12878-XiMat	blood
34	chr4:10706000-10706600	Enhancers	Ovary	ovary
35	chr4:10706200-10706400	ZNF genes & repeats	Pancreas	Pancrea
36	chr4:10706200-10706600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:10706200-10706600	Enhancers	Aorta	Aorta
38	chr4:10706400-10707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:10706400-10707600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:10706400-10707600	Weak transcription	Pancreas	Pancrea
41	chr4:10706400-10707800	Weak transcription	GM12878-XiMat	blood
42	chr4:10706600-10707600	Weak transcription	Aorta	Aorta
43	chr4:10706600-10707600	Weak transcription	NH-A	brain
44	chr4:10706600-10707600	Weak transcription	Osteobl	bone
45	chr4:10706600-10708000	Weak transcription	Ovary	ovary
46	chr4:10706600-10710400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:10707000-10710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:10707600-10707800	Enhancers	Aorta	Aorta
49	chr4:10707600-10707800	Enhancers	Pancreas	Pancrea
50	chr4:10707600-10708000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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