Variant report

Variant	nsv967808
Chromosome Location	chr4:165889668-165893030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:165890100-165890125	Lung_OC	lung:	n/a	n/a
2	POLR2A	chr4:165889538-165889702	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr4:165889911-165889924	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr4:165889973-165890064	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr4:165893019-165893540	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:165876074..165878048-chr4:165892405..165894471,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM192-4	chr4:165889739-165891154	NONHSAT099094

Variant related genes	Relation type
ENSG00000248632	TF binding region

Extended variants
information (count: 135 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13110309	chr4:165889672-165889673	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1878924	chr4:165889684-165889685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192184548	chr4:165889711-165889712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185811616	chr4:165889714-165889715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111343523	chr4:165889722-165889723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560548986	chr4:165889732-165889733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377386983	chr4:165889805-165889806	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs1878923	chr4:165889823-165889824	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs527882069	chr4:165889835-165889836	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549737394	chr4:165889903-165889904	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs567969332	chr4:165889906-165889907	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs4349559	chr4:165889947-165889948	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs373170909	chr4:165889961-165889962	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs4632609	chr4:165889984-165889985	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs568801799	chr4:165890006-165890007	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs1878922	chr4:165890015-165890016	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs188681215	chr4:165890035-165890036	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs192277352	chr4:165890094-165890095	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs566377858	chr4:165890102-165890103	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs533731831	chr4:165890130-165890131	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs555106251	chr4:165890133-165890134	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs111581708	chr4:165890140-165890141	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs544470227	chr4:165890172-165890173	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs556315462	chr4:165890196-165890197	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs577944627	chr4:165890239-165890240	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs370842936	chr4:165890261-165890262	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs545215199	chr4:165890273-165890274	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs533815911	chr4:165890280-165890281	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs560559106	chr4:165890335-165890336	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs34550736	chr4:165890363-165890364	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs10007789	chr4:165890377-165890378	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543245071	chr4:165890378-165890379	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs111511345	chr4:165890412-165890413	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs561437367	chr4:165890446-165890447	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs532061145	chr4:165890458-165890459	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs550435300	chr4:165890471-165890472	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs562373103	chr4:165890479-165890480	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs532940005	chr4:165890591-165890592	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs551230916	chr4:165890612-165890613	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs566241270	chr4:165890652-165890653	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs533598241	chr4:165890667-165890668	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs548790230	chr4:165890671-165890672	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs199540291	chr4:165890673-165890674	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs537775495	chr4:165890772-165890773	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs371499492	chr4:165890789-165890790	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs200764159	chr4:165890815-165890816	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs539032260	chr4:165890818-165890819	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs554160561	chr4:165890824-165890825	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs572594143	chr4:165890937-165890938	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs543109171	chr4:165890947-165890948	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165878800-165891800	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:165878800-165892000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:165878800-165893400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:165878800-165893600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:165878800-165895000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:165878800-165895200	Weak transcription	Fetal Thymus	thymus
7	chr4:165878800-165897800	Weak transcription	Left Ventricle	heart
8	chr4:165878800-165898200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:165879000-165897600	Weak transcription	Fetal Lung	lung
10	chr4:165879000-165897800	Weak transcription	Adipose Nuclei	Adipose
11	chr4:165879200-165893400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:165879200-165894800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:165879400-165892000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:165879400-165897600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:165879400-165898000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:165879600-165889800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:165879600-165893600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:165879800-165898000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:165880000-165897600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:165880200-165897600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:165881400-165897800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:165881600-165892000	Weak transcription	Fetal Intestine Small	intestine
23	chr4:165881600-165897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:165881600-165898000	Weak transcription	Osteobl	bone
25	chr4:165882200-165890000	Weak transcription	HSMMtube	muscle
26	chr4:165882200-165897800	Weak transcription	HSMM	muscle
27	chr4:165884200-165892000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:165884600-165898200	Weak transcription	Ovary	ovary
29	chr4:165885200-165892000	Weak transcription	Fetal Stomach	stomach
30	chr4:165886000-165894200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:165886600-165893600	Weak transcription	Aorta	Aorta
32	chr4:165886800-165897600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:165887000-165898200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr4:165887200-165898000	Weak transcription	Primary B cells from cord blood	blood
35	chr4:165888600-165890400	Strong transcription	Fetal Intestine Large	intestine
36	chr4:165888800-165895600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:165888800-165895600	Weak transcription	GM12878-XiMat	blood
38	chr4:165888800-165897600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:165888800-165898000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:165889200-165895200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:165889400-165891000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:165889400-165897800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:165889800-165890400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:165889800-165897800	Weak transcription	Right Ventricle	heart
45	chr4:165890000-165890200	Enhancers	HSMMtube	muscle
46	chr4:165890400-165892200	Weak transcription	Fetal Intestine Large	intestine
47	chr4:165890400-165893400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:165891000-165896200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:165891400-165897600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:165891400-165897800	Weak transcription	Brain Substantia Nigra	brain

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