Variant report

Variant	nsv967954
Chromosome Location	chr4:152375648-152378412
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	chr4:152371542..152374443-chr4:152375598..152378565,2	MCF-7	breast:
2	chr16:50936343..50936843-chr4:152377370..152378176,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM160A1-8	chr4:152375853-152375960	NONHSAT098760
2	lnc-FAM160A1-8	chr4:152375853-152375960	NONHSAT098761

Extended variants
information (count: 95 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550612947	chr4:152375661-152375662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576480891	chr4:152375689-152375690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568877890	chr4:152375699-152375700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536424576	chr4:152375717-152375718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554833315	chr4:152375743-152375744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566758636	chr4:152375771-152375772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534124072	chr4:152375787-152375788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6845067	chr4:152375803-152375804	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs76187201	chr4:152375848-152375849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367599100	chr4:152375901-152375902	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs181928489	chr4:152375942-152375943	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs556586699	chr4:152375955-152375956	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs373896511	chr4:152375980-152375981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35657132	chr4:152376001-152376002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574611424	chr4:152376039-152376040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145852433	chr4:152376044-152376045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6845648	chr4:152376050-152376051	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs6846013	chr4:152376089-152376090	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs546430833	chr4:152376241-152376242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564610240	chr4:152376258-152376259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564635461	chr4:152376303-152376304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149002164	chr4:152376305-152376306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144545063	chr4:152376314-152376315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146662867	chr4:152376330-152376331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2724570	chr4:152376331-152376332	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115445192	chr4:152376385-152376386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28712248	chr4:152376496-152376497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140260454	chr4:152376522-152376523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371895881	chr4:152376549-152376550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375076655	chr4:152376554-152376555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533748724	chr4:152376572-152376573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145301390	chr4:152376692-152376693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60077220	chr4:152376718-152376719	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538210736	chr4:152376761-152376762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148011488	chr4:152376782-152376783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2724571	chr4:152376795-152376796	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs538984395	chr4:152376802-152376803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57549210	chr4:152376853-152376854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115474968	chr4:152376886-152376887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185774616	chr4:152376993-152376994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576372598	chr4:152377009-152377010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546097375	chr4:152377049-152377050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564773563	chr4:152377091-152377092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531943200	chr4:152377096-152377097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544183138	chr4:152377107-152377108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543868958	chr4:152377137-152377138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71596250	chr4:152377141-152377142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71596251	chr4:152377145-152377146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11938378	chr4:152377162-152377163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201890760	chr4:152377245-152377246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152364000-152379200	Weak transcription	NHEK	skin
2	chr4:152368200-152376600	Weak transcription	Psoas Muscle	Psoas
3	chr4:152375400-152376600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr4:152375400-152376800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr4:152375400-152377000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:152375400-152377600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr4:152375600-152377600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:152375600-152377600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:152375600-152377800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:152375600-152382200	Weak transcription	Pancreas	Pancrea
11	chr4:152375800-152376800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:152376000-152376200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:152376000-152376400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:152376000-152377600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:152376000-152378200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:152376000-152380600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr4:152376200-152376600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr4:152376200-152377400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:152376200-152378400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:152376400-152376800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:152376400-152377000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:152376400-152377000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:152376400-152377200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:152376400-152379200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:152376600-152377000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr4:152376600-152377600	Enhancers	Psoas Muscle	Psoas
27	chr4:152376600-152379600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr4:152376600-152380800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:152376800-152378600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:152376800-152379200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:152376800-152379400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:152377000-152377400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:152377000-152379200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:152377000-152379200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:152377000-152380000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr4:152377400-152377600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr4:152377400-152379200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:152377600-152378400	Weak transcription	Psoas Muscle	Psoas
39	chr4:152377600-152378400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:152377600-152379800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:152377600-152379800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:152377600-152380000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:152377600-152380600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:152377800-152379400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:152378200-152379200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:152378400-152378800	Enhancers	Psoas Muscle	Psoas
47	chr4:152378400-152380000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:152378400-152380600	Enhancers	Skeletal Muscle Female	skeletal muscle

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