Variant report

Variant	nsv879875
Chromosome Location	chr4:124821888-124904592
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:9)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:124830712..124832385-chr4:124840886..124843472,2	K562	blood:
2	chr4:124870030..124872262-chr4:124875287..124877433,2	K562	blood:
3	chr4:124830712..124832385-chr4:124840886..124843472,2	K562	blood:
4	chr4:124879304..124882242-chr4:124884057..124885854,3	MCF-7	breast:
5	chr4:124870030..124872262-chr4:124875287..124877433,2	K562	blood:
6	chr4:124902976..124905856-chr4:124908350..124910069,2	MCF-7	breast:
7	chr4:124861115..124863885-chr4:124872326..124874671,2	K562	blood:
8	chr4:124879304..124882242-chr4:124884057..124885854,3	MCF-7	breast:
9	chr4:124861115..124863885-chr4:124872326..124874671,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRY1-2	chr4:124846339-124846492	ENSG00000249464
2	lnc-SPRY1-2	chr4:124846339-124846492	NONHSAT098194
3	lnc-SPRY1-2	chr4:124828696-124829244	NONHSAT098194
4	lnc-SPRY1-2	chr4:124883090-124883820	NONHSAT098194
5	lnc-SPRY1-2	chr4:124851403-124851561	ENSG00000249464
6	lnc-SPRY1-2	chr4:124850922-124851883	NONHSAT098205
7	lnc-SPRY1-2	chr4:124846337-124846492	NONHSAT098205
8	lnc-SPRY1-2	chr4:124846339-124846492	NONHSAT098199
9	lnc-SPRY1-2	chr4:124846339-124846492	ENSG00000249464
10	lnc-SPRY1-2	chr4:124850942-124851365	NONHSAT098194
11	lnc-SPRY1-2	chr4:124851403-124851509	ENSG00000249464
12	lnc-SPRY1-2	chr4:124851399-124852062	NONHSAT098194
13	lnc-SPRY1-2	chr4:124851403-124851518	NONHSAT098199

No data

Variant related genes	Relation type
PAPD5	miRNA target sites
KCTD11	miRNA target sites
ARPC5	miRNA target sites
LRRC1	miRNA target sites

Extended variants
information (count: 2770 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2770 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3097930	chr4:124821888-124821889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553859557	chr4:124821913-124821914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72672815	chr4:124821941-124821942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190352971	chr4:124822092-124822093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182511562	chr4:124822103-124822104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188016021	chr4:124822112-124822113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545304196	chr4:124822241-124822242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565151090	chr4:124822245-124822246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527495641	chr4:124822284-124822285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541184118	chr4:124822303-124822304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538478464	chr4:124822329-124822330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542567211	chr4:124822366-124822367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376092884	chr4:124822393-124822394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6845345	chr4:124822394-124822395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533778038	chr4:124822403-124822404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548084677	chr4:124822410-124822411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567980837	chr4:124822443-124822444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193090303	chr4:124822445-124822446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531910363	chr4:124822492-124822493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62321846	chr4:124822523-124822524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369364851	chr4:124822595-124822596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571570143	chr4:124822596-124822597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112532936	chr4:124822604-124822605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534128967	chr4:124822639-124822640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115558037	chr4:124822675-124822676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs999190	chr4:124822676-124822677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115439663	chr4:124822729-124822730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149701750	chr4:124822753-124822754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576407965	chr4:124822793-124822794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538998568	chr4:124822882-124822883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557084459	chr4:124822914-124822915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183865534	chr4:124822940-124822941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187787604	chr4:124822944-124822945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541272006	chr4:124822955-124822956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs999189	chr4:124822986-124822987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574482049	chr4:124823049-124823050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79336632	chr4:124823071-124823072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563207906	chr4:124823072-124823073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531991176	chr4:124823073-124823074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551710611	chr4:124823090-124823091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565284407	chr4:124823119-124823120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527970628	chr4:124823127-124823128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1433221	chr4:124823208-124823209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191949605	chr4:124823222-124823223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536418347	chr4:124823282-124823283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547448213	chr4:124823336-124823337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114095990	chr4:124823360-124823361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539035689	chr4:124823370-124823371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79232777	chr4:124823399-124823400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373455106	chr4:124823410-124823411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124818400-124826200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:124820800-124823000	Weak transcription	Psoas Muscle	Psoas
3	chr4:124823000-124823200	Enhancers	Psoas Muscle	Psoas
4	chr4:124823000-124823200	Enhancers	Right Atrium	heart
5	chr4:124826200-124826600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:124826200-124826800	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr4:124826400-124828000	Enhancers	Fetal Intestine Large	intestine
8	chr4:124826800-124827200	Weak transcription	Fetal Intestine Small	intestine
9	chr4:124827200-124828000	Enhancers	Fetal Intestine Small	intestine
10	chr4:124830800-124831200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:124834200-124835000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:124834200-124835000	Enhancers	Fetal Heart	heart
13	chr4:124836800-124837200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:124837000-124837200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:124837000-124837400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:124837000-124837400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:124837000-124837400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:124837000-124837400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:124837200-124845800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:124840000-124857800	Weak transcription	Fetal Intestine Small	intestine
21	chr4:124840600-124840800	Enhancers	HUVEC	blood vessel
22	chr4:124840800-124841000	Enhancers	Aorta	Aorta
23	chr4:124840800-124844000	Weak transcription	Fetal Intestine Large	intestine
24	chr4:124841000-124841200	Enhancers	Placenta	Placenta
25	chr4:124841000-124841200	Enhancers	Left Ventricle	heart
26	chr4:124841000-124842600	Weak transcription	HUVEC	blood vessel
27	chr4:124841000-124849400	Weak transcription	Aorta	Aorta
28	chr4:124841200-124851200	Weak transcription	Left Ventricle	heart
29	chr4:124842200-124842400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:124842400-124842600	Enhancers	Fetal Muscle Leg	muscle
31	chr4:124842400-124843400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:124842600-124843000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr4:124842600-124846000	Enhancers	HUVEC	blood vessel
34	chr4:124842600-124854800	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:124843400-124846000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:124843400-124846000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:124844000-124844400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:124844000-124844400	Enhancers	Primary hematopoietic stem cells	blood
39	chr4:124844000-124844400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr4:124844000-124844400	Enhancers	Fetal Intestine Large	intestine
41	chr4:124844000-124844400	Enhancers	NHDF-Ad	bronchial
42	chr4:124844000-124844600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:124844200-124844600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:124844200-124845000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:124844400-124845600	Weak transcription	NHDF-Ad	bronchial
46	chr4:124844400-124857800	Weak transcription	Fetal Intestine Large	intestine
47	chr4:124844600-124845800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:124845000-124845400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:124845000-124846200	Enhancers	HSMM	muscle
50	chr4:124845000-124846800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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