Variant report

Variant	nsv980271
Chromosome Location	chr4:166140782-166154486
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	ARID3A	chr4:166143694-166143924	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:166143751-166144062	HCT-116	colon:	n/a	n/a
3	CTCF	chr4:166150223-166150276	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr4:166142572-166142667	GM19239	blood:	n/a	n/a
5	CTCF	chr4:166145602-166145669	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr4:166152401-166152439	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr4:166145126-166145275	Kidney_OC	kidney:	n/a	n/a
8	E2F4	chr4:166142643-166142796	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr4:166145652-166145763	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr4:166143910-166144110	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr4:166154391-166154415	GM12878	blood:	n/a	n/a
12	FOS	chr4:166143772-166144101	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr4:166143677-166144095	HUVEC	blood vessel:	n/a	n/a
14	FOS	chr4:166143777-166144094	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr4:166143129-166143490	MCF10A-Er-Src	breast:	n/a	chr4:166143262-166143269 chr4:166143262-166143271 chr4:166143261-166143271
16	FOS	chr4:166143129-166143418	MCF10A-Er-Src	breast:	n/a	chr4:166143262-166143269 chr4:166143262-166143271 chr4:166143261-166143271
17	FOS	chr4:166143145-166143411	MCF10A-Er-Src	breast:	n/a	chr4:166143262-166143269 chr4:166143262-166143271 chr4:166143261-166143271
18	FOS	chr4:166144597-166144658	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr4:166143128-166143488	MCF10A-Er-Src	breast:	n/a	chr4:166143262-166143269 chr4:166143262-166143271 chr4:166143261-166143271
20	FOS	chr4:166143795-166144086	MCF10A-Er-Src	breast:	n/a	n/a
21	FOSL2	chr4:166143056-166143477	HepG2	liver:	n/a	chr4:166143262-166143269 chr4:166143262-166143271 chr4:166143261-166143271
22	FOXA1	chr4:166143111-166143480	HepG2	liver:	n/a	n/a
23	FOXA2	chr4:166143132-166143462	A549	lung:	n/a	n/a
24	JUN	chr4:166143692-166144106	HUVEC	blood vessel:	n/a	n/a
25	JUN	chr4:166143824-166143889	K562	blood:	n/a	n/a
26	JUND	chr4:166143129-166143335	HepG2	liver:	n/a	chr4:166143262-166143269 chr4:166143262-166143271 chr4:166143261-166143271
27	JUND	chr4:166143116-166143360	HepG2	liver:	n/a	chr4:166143262-166143269 chr4:166143262-166143271 chr4:166143261-166143271
28	MAFK	chr4:166143360-166143386	HepG2	liver:	n/a	n/a
29	MYC	chr4:166143181-166143393	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr4:166143435-166143476	HepG2	liver:	n/a	n/a
31	MYC	chr4:166142501-166142804	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr4:166143869-166144065	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr4:166143186-166143380	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr4:166142551-166142712	MCF-7	breast:	n/a	n/a
35	MYC	chr4:166143892-166144092	MCF10A-Er-Src	breast:	n/a	n/a
36	NR3C1	chr4:166143123-166143522	A549	lung:	n/a	n/a
37	NR3C1	chr4:166143100-166143480	A549	lung:	n/a	n/a
38	NR3C1	chr4:166143096-166143554	A549	lung:	n/a	n/a
39	NR3C1	chr4:166143128-166143406	A549	lung:	n/a	n/a
40	NR3C1	chr4:166143098-166143337	A549	lung:	n/a	n/a
41	POLR2A	chr4:166143239-166143246	A549	lung:	n/a	n/a
42	POLR2A	chr4:166143248-166143316	A549	lung:	n/a	n/a
43	POLR2A	chr4:166150857-166150879	ProgFib	skin:	n/a	n/a
44	POLR2A	chr4:166150888-166151077	ProgFib	skin:	n/a	n/a
45	POLR2A	chr4:166143840-166144155	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr4:166147494-166147606	ProgFib	skin:	n/a	n/a
47	POLR2A	chr4:166142631-166143375	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr4:166143713-166144151	SK-N-MC	brain:	n/a	n/a
49	POLR2A	chr4:166143813-166144072	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr4:166143244-166143450	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166128715..166130497-chr4:166146395..166149065,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MSMO1-1	chr4:166143201-166144207	NONHSAT099102

Variant related genes	Relation type
KLHL2	TF binding region
ENSG00000170088	chromatin interactions
ENSG00000109466	chromatin interactions

Extended variants
information (count: 464 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537408495	chr4:166140804-166140805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549822847	chr4:166140829-166140830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188091394	chr4:166140854-166140855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377518378	chr4:166140902-166140903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553151889	chr4:166140903-166140904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538921393	chr4:166140922-166140923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558694216	chr4:166140932-166140933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554150306	chr4:166140949-166140950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370304647	chr4:166140961-166140962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374418442	chr4:166140972-166140973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56229356	chr4:166140983-166140984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369955602	chr4:166141065-166141066	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202185247	chr4:166141086-166141087	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143711077	chr4:166141117-166141118	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371669102	chr4:166141132-166141133	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148132541	chr4:166141137-166141138	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76537479	chr4:166141138-166141139	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554728707	chr4:166141146-166141147	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372297674	chr4:166141249-166141250	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189172002	chr4:166141290-166141291	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564916299	chr4:166141343-166141344	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576865673	chr4:166141363-166141364	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541320973	chr4:166141404-166141405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559619636	chr4:166141408-166141409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574838724	chr4:166141418-166141419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540755048	chr4:166141419-166141420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530190643	chr4:166141455-166141456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575272102	chr4:166141472-166141473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548779312	chr4:166141489-166141490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13109166	chr4:166141496-166141497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182046562	chr4:166141557-166141558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560538963	chr4:166141580-166141581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577403360	chr4:166141585-166141586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200622900	chr4:166141593-166141594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376030036	chr4:166141599-166141600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549935078	chr4:166141645-166141646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201467306	chr4:166141705-166141706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538685426	chr4:166141721-166141722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547666605	chr4:166141841-166141842	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565974381	chr4:166141850-166141851	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186643262	chr4:166141876-166141877	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111477343	chr4:166141902-166141903	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546109927	chr4:166141909-166141910	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71602581	chr4:166141929-166141930	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563086370	chr4:166141949-166141950	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113393583	chr4:166141954-166141955	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371530532	chr4:166142002-166142003	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145533954	chr4:166142030-166142031	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189965336	chr4:166142048-166142049	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374559155	chr4:166142142-166142143	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166154400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
3	chr4:166129800-166142600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:166130200-166150800	Weak transcription	Fetal Intestine Large	intestine
5	chr4:166130400-166142400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:166130400-166143400	Weak transcription	Fetal Thymus	thymus
7	chr4:166130400-166143600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:166130400-166143600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:166130400-166143600	Weak transcription	HSMM	muscle
10	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
11	chr4:166130600-166142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:166130600-166142400	Weak transcription	Right Ventricle	heart
13	chr4:166130600-166142800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:166130600-166143200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:166130600-166146200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:166130600-166200800	Weak transcription	Lung	lung
17	chr4:166131200-166142400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:166131200-166142600	Weak transcription	Psoas Muscle	Psoas
19	chr4:166131200-166143600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:166131400-166148600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:166131600-166143200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr4:166131600-166143400	Weak transcription	Dnd41	blood
23	chr4:166131600-166162800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:166131600-166165800	Weak transcription	Gastric	stomach
25	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:166132000-166143600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:166132000-166156400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:166132200-166143600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:166132200-166143800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:166132200-166193800	Weak transcription	Fetal Brain Female	brain
31	chr4:166133000-166142400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:166134000-166146000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:166134400-166143400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:166135600-166143600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:166135800-166142400	Weak transcription	HepG2	liver
36	chr4:166135800-166152600	Weak transcription	Brain Germinal Matrix	brain
37	chr4:166135800-166159000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:166136000-166141800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:166136000-166142600	Weak transcription	Brain Angular Gyrus	brain
40	chr4:166136000-166143600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:166136000-166176800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:166136200-166141000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr4:166136800-166143600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:166137200-166142600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr4:166137200-166142600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:166137200-166143600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:166137600-166142600	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:166137600-166143400	Weak transcription	Adipose Nuclei	Adipose
49	chr4:166137600-166162800	Weak transcription	NH-A	brain
50	chr4:166137800-166141800	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links