Variant report

Variant	nsv967942
Chromosome Location	chr4:26431948-26434832
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:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBPJ-2	chr4:26434615-26436541	NONHSAT095875
2	lnc-RBPJ-2	chr4:26434616-26434881	NONHSAT095876

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RBPJ	hsa-let-7b-5p	chr4:26432611-26432638
2	RBPJ	hsa-miR-18a-5p	chr4:26433068-26433091
3	RBPJ	hsa-miR-375	chr4:26432948-26432969
4	RBPJ	hsa-miR-375	chr4:26432525-26432547

Extended variants
information (count: 127 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547818542	chr4:26431953-26431954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577879127	chr4:26431977-26431978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73126674	chr4:26431988-26431989	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs76999975	chr4:26432057-26432058	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563677515	chr4:26432058-26432059	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1141521	chr4:26432060-26432061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567698995	chr4:26432095-26432096	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369884237	chr4:26432182-26432183	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148387267	chr4:26432203-26432204	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543097674	chr4:26432271-26432272	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377029958	chr4:26432299-26432300	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200933012	chr4:26432301-26432302	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202103137	chr4:26432328-26432329	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1064380	chr4:26432338-26432339	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1064381	chr4:26432348-26432349	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200263957	chr4:26432351-26432352	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1064382	chr4:26432360-26432361	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199751563	chr4:26432369-26432370	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1064383	chr4:26432376-26432377	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1064384	chr4:26432382-26432383	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115299796	chr4:26432385-26432386	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1058609	chr4:26432390-26432391	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1058610	chr4:26432392-26432393	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1064387	chr4:26432399-26432400	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547581274	chr4:26432402-26432403	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1064396	chr4:26432431-26432432	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113000486	chr4:26432433-26432434	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34869653	chr4:26432449-26432450	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1064401	chr4:26432468-26432469	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140440559	chr4:26432475-26432476	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373447648	chr4:26432485-26432486	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1064402	chr4:26432493-26432494	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150367056	chr4:26432497-26432498	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1058611	chr4:26432500-26432501	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1058613	chr4:26432503-26432504	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202024680	chr4:26432510-26432511	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1064403	chr4:26432511-26432512	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1064404	chr4:26432517-26432518	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1064405	chr4:26432527-26432528	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
40	rs369384969	chr4:26432539-26432540	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
41	rs200349793	chr4:26432540-26432541	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
42	rs573271840	chr4:26432560-26432561	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373252928	chr4:26432569-26432570	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369714193	chr4:26432575-26432576	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150865690	chr4:26432576-26432577	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149497496	chr4:26432592-26432593	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143956090	chr4:26432602-26432603	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146579296	chr4:26432607-26432608	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138763265	chr4:26432620-26432621	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
50	rs368717046	chr4:26432634-26432635	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26375200-26439200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:26381600-26439800	Weak transcription	Spleen	Spleen
3	chr4:26387200-26436000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:26399800-26437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:26404400-26436000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:26408000-26439000	Weak transcription	Hela-S3	cervix
7	chr4:26408400-26442000	Weak transcription	Aorta	Aorta
8	chr4:26408800-26432200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:26413800-26440200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:26414200-26432200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:26414600-26443000	Weak transcription	Fetal Brain Male	brain
12	chr4:26417200-26443600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:26420200-26440600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr4:26421000-26432200	Weak transcription	Fetal Intestine Small	intestine
15	chr4:26421600-26434400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:26422000-26436200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:26422200-26433600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr4:26422200-26434800	Strong transcription	Primary B cells from cord blood	blood
19	chr4:26422200-26436600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:26422200-26437200	Strong transcription	Adipose Nuclei	Adipose
21	chr4:26422200-26440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:26422200-26440800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:26422800-26433600	Strong transcription	HSMM	muscle
24	chr4:26422800-26441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:26423000-26442600	Weak transcription	Fetal Heart	heart
26	chr4:26423200-26433000	Strong transcription	NHDF-Ad	bronchial
27	chr4:26423200-26446000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:26423400-26459200	Weak transcription	Thymus	Thymus
29	chr4:26424400-26440800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:26425000-26438400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:26425200-26433200	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr4:26425200-26441800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:26425600-26442600	Weak transcription	Stomach Mucosa	stomach
34	chr4:26425800-26433600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:26425800-26435800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:26425800-26436200	Weak transcription	Colonic Mucosa	Colon
37	chr4:26425800-26438400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:26425800-26440200	Strong transcription	Placenta	Placenta
39	chr4:26426000-26435000	Strong transcription	Fetal Intestine Large	intestine
40	chr4:26426000-26436200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:26426200-26435000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr4:26426200-26440600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:26426400-26433200	Strong transcription	Osteobl	bone
44	chr4:26427200-26432000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr4:26427200-26440000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:26427400-26432200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:26427400-26432400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:26427600-26432000	Weak transcription	Brain Angular Gyrus	brain
49	chr4:26427800-26432200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr4:26428600-26440600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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