Variant report

Variant	nsv537057
Chromosome Location	chr4:27694978-27819838
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:5)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:27818919..27821261-chr4:27825459..27827284,2	MCF-7	breast:
2	chr4:27734351..27735964-chr4:27740947..27742960,2	MCF-7	breast:
3	chr4:27807086..27808753-chr4:27809733..27812623,2	K562	blood:
4	chr4:27807086..27808753-chr4:27809733..27812623,2	K562	blood:
5	chr4:27734351..27735964-chr4:27740947..27742960,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STIM2-2	chr4:27738268-27738377	XLOC_003485
2	lnc-STIM2-2	chr4:27751714-27751818	XLOC_003485
3	lnc-STIM2-2	chr4:27747043-27747075	XLOC_003485
4	lnc-STIM2-7	chr4:27731935-27732227	NONHSAT095902
5	lnc-STIM2-7	chr4:27736179-27736399	NONHSAT095902

No data

Variant related genes	Relation type
GOLGA4	miRNA target sites
BCL11B	miRNA target sites

Extended variants
information (count: 1739 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1739 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73805859	chr4:27694990-27694991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533066703	chr4:27694993-27694994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115585310	chr4:27695001-27695002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190995796	chr4:27695002-27695003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548194575	chr4:27695019-27695020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181750591	chr4:27695029-27695030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534057005	chr4:27695031-27695032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374045545	chr4:27695055-27695056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79894049	chr4:27695093-27695094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149824608	chr4:27695129-27695130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186002246	chr4:27695132-27695133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144969981	chr4:27695133-27695134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149048659	chr4:27695153-27695154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143029112	chr4:27695171-27695172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558442486	chr4:27695201-27695202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572167542	chr4:27695214-27695215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191556499	chr4:27695223-27695224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576699885	chr4:27695252-27695253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182823316	chr4:27695255-27695256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114838516	chr4:27695261-27695262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544204877	chr4:27695298-27695299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563565353	chr4:27695324-27695325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116816642	chr4:27695381-27695382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187942862	chr4:27695384-27695385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568164922	chr4:27695388-27695389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527772925	chr4:27695418-27695419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73805860	chr4:27695504-27695505	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs719713	chr4:27695557-27695558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79629504	chr4:27695570-27695571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371867467	chr4:27695584-27695585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570340355	chr4:27695585-27695586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536199421	chr4:27695595-27695596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35124448	chr4:27696216-27696217	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192413877	chr4:27696288-27696289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141456443	chr4:27696296-27696297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534578276	chr4:27696307-27696308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557503111	chr4:27696337-27696338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369517274	chr4:27696344-27696345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79438946	chr4:27696349-27696350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530176125	chr4:27696374-27696375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369609615	chr4:27696396-27696397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11723101	chr4:27696416-27696417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147019590	chr4:27696433-27696434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542420079	chr4:27696455-27696456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559197338	chr4:27696588-27696589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573795310	chr4:27696616-27696617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116192905	chr4:27696617-27696618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1449768	chr4:27696632-27696633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs34148021	chr4:27696657-27696658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184463730	chr4:27696662-27696663	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27694000-27695600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr4:27695000-27695200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:27696200-27696800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:27696200-27696800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:27697600-27698000	Enhancers	Fetal Intestine Large	intestine
6	chr4:27697600-27698600	Enhancers	Liver	Liver
7	chr4:27702800-27703200	Enhancers	Brain Substantia Nigra	brain
8	chr4:27702800-27703400	Enhancers	Fetal Lung	lung
9	chr4:27702800-27703600	Enhancers	Rectal Smooth Muscle	rectum
10	chr4:27702800-27704600	Enhancers	Liver	Liver
11	chr4:27702800-27704600	Enhancers	Colon Smooth Muscle	Colon
12	chr4:27702800-27705200	Enhancers	Brain Germinal Matrix	brain
13	chr4:27703000-27703600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:27703000-27703800	Enhancers	Fetal Stomach	stomach
15	chr4:27703200-27703600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:27703200-27703600	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr4:27703200-27703600	Enhancers	Fetal Kidney	kidney
18	chr4:27703200-27704800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:27703400-27703800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:27703400-27703800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr4:27703400-27704000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:27703400-27704400	Weak transcription	Fetal Lung	lung
23	chr4:27703400-27704800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:27703400-27705000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:27703600-27703800	Enhancers	Brain Substantia Nigra	brain
26	chr4:27703600-27704600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:27703600-27704800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:27703800-27704200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:27703800-27704800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:27703800-27704800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:27703800-27704800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:27703800-27705000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:27704000-27704400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:27704200-27704800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:27704400-27704600	Enhancers	Fetal Lung	lung
36	chr4:27704400-27704800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:27704400-27704800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:27704400-27704800	Enhancers	Brain Cingulate Gyrus	brain
39	chr4:27704600-27704800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:27711800-27712400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:27711800-27712400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:27711800-27712600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:27712400-27722800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:27717400-27719600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:27718000-27719200	Enhancers	Fetal Stomach	stomach
46	chr4:27718400-27719000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr4:27718400-27719000	Enhancers	Fetal Lung	lung
48	chr4:27718600-27719200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:27719200-27720200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:27720400-27720600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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