Variant report

Variant	nsv879877
Chromosome Location	chr4:124847477-124935698
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:13)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:124911069..124913038-chr4:124917106..124920005,2	MCF-7	breast:
2	chr4:124693285..124694245-chr4:124911389..124911929,2	MCF-7	breast:
3	chr4:124861115..124863885-chr4:124872326..124874671,2	K562	blood:
4	chr4:124870030..124872262-chr4:124875287..124877433,2	K562	blood:
5	chr4:124902976..124905856-chr4:124908350..124910069,2	MCF-7	breast:
6	chr4:124908353..124909167-chrX:18527422..18528088,2	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	chr4:124911069..124913038-chr4:124917106..124920005,2	MCF-7	breast:
10	chr4:124870030..124872262-chr4:124875287..124877433,2	K562	blood:
11	chr4:124879304..124882242-chr4:124884057..124885854,3	MCF-7	breast:
12	chr4:124693711..124694660-chr4:124911167..124912152,7	MCF-7	breast:
13	chr4:124902976..124905856-chr4:124908350..124910069,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRY1-2	chr4:124851403-124851561	ENSG00000249464
2	lnc-SPRY1-2	chr4:124851399-124852062	NONHSAT098194
3	lnc-SPRY1-2	chr4:124851403-124851509	ENSG00000249464
4	lnc-SPRY1-2	chr4:124850942-124851365	NONHSAT098194
5	lnc-SPRY1-2	chr4:124850922-124851883	NONHSAT098205
6	lnc-SPRY1-2	chr4:124851403-124851518	NONHSAT098199
7	lnc-SPRY1-9	chr4:124914869-124914980	ucscGeneNc_uc003ifd_1
8	lnc-SPRY1-2	chr4:124883090-124883820	NONHSAT098194

No data

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

Extended variants
information (count: 2880 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2880 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10034152	chr4:124847477-124847478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114410481	chr4:124847587-124847588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575999115	chr4:124847604-124847605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112543915	chr4:124847632-124847633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190870055	chr4:124847647-124847648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564474979	chr4:124847663-124847664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200923642	chr4:124847714-124847715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34285218	chr4:124847715-124847716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577893900	chr4:124847719-124847720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs398083475	chr4:124847724-124847725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369043808	chr4:124847725-124847726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201137771	chr4:124847726-124847727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540495550	chr4:124847731-124847732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560537634	chr4:124847750-124847751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529449198	chr4:124847790-124847791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572354125	chr4:124847805-124847806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183066199	chr4:124847933-124847934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62321851	chr4:124847941-124847942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs377300675	chr4:124847949-124847950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531782749	chr4:124847960-124847961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551787738	chr4:124847966-124847967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140927570	chr4:124847967-124847968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534104299	chr4:124848052-124848053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202228872	chr4:124848071-124848072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547627915	chr4:124848101-124848102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144576066	chr4:124848181-124848182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536441134	chr4:124848188-124848189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556025223	chr4:124848205-124848206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138543242	chr4:124848222-124848223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62321852	chr4:124848353-124848354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558150581	chr4:124848402-124848403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571673670	chr4:124848406-124848407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540536128	chr4:124848430-124848431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140715833	chr4:124848438-124848439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560514125	chr4:124848450-124848451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75633287	chr4:124848481-124848482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72915122	chr4:124848485-124848486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187783354	chr4:124848495-124848496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116591790	chr4:124848509-124848510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143840958	chr4:124848597-124848598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565287496	chr4:124848683-124848684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191441771	chr4:124848684-124848685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547419220	chr4:124848716-124848717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567540337	chr4:124848733-124848734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183758823	chr4:124848748-124848749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529880625	chr4:124848824-124848825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549099912	chr4:124848928-124848929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549926268	chr4:124848933-124848934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187889589	chr4:124848969-124848970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538361416	chr4:124849019-124849020	Weak transcription Enhancers	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:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124840000-124857800	Weak transcription	Fetal Intestine Small	intestine
2	chr4:124841000-124849400	Weak transcription	Aorta	Aorta
3	chr4:124841200-124851200	Weak transcription	Left Ventricle	heart
4	chr4:124842600-124854800	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:124844400-124857800	Weak transcription	Fetal Intestine Large	intestine
6	chr4:124845000-124857800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:124845200-124859000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:124846000-124857800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:124846200-124857400	Weak transcription	HSMM	muscle
10	chr4:124846600-124849200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:124846800-124852400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:124847400-124847600	Weak transcription	Fetal Lung	lung
13	chr4:124848800-124849600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:124849000-124849600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:124849000-124849800	Enhancers	Fetal Heart	heart
16	chr4:124849400-124849800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:124849400-124849800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:124849400-124849800	Enhancers	Aorta	Aorta
19	chr4:124849600-124849800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr4:124849600-124849800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:124849800-124855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr4:124850600-124851200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:124851800-124853000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr4:124852400-124852600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr4:124853000-124857800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:124853800-124857400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:124854800-124855000	Enhancers	Fetal Muscle Leg	muscle
28	chr4:124855000-124855400	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:124855400-124855800	Enhancers	HSMMtube	muscle
30	chr4:124855400-124856000	Enhancers	Fetal Muscle Leg	muscle
31	chr4:124855800-124857600	Weak transcription	HSMMtube	muscle
32	chr4:124856000-124867600	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:124856800-124862800	Enhancers	HUVEC	blood vessel
34	chr4:124857000-124858600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:124857000-124864000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:124857200-124861000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:124857400-124858400	Enhancers	HSMM	muscle
38	chr4:124857400-124858800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:124857400-124859400	Enhancers	Fetal Lung	lung
40	chr4:124857600-124858200	Enhancers	HSMMtube	muscle
41	chr4:124857800-124858000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:124857800-124858600	Enhancers	Fetal Intestine Large	intestine
43	chr4:124857800-124858600	Enhancers	Stomach Mucosa	stomach
44	chr4:124857800-124859000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:124857800-124859000	Enhancers	Fetal Heart	heart
46	chr4:124857800-124859000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr4:124857800-124859200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr4:124857800-124859200	Enhancers	Fetal Intestine Small	intestine
49	chr4:124857800-124859400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:124857800-124859400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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