Variant report

Variant	nsv980272
Chromosome Location	chr4:166179748-166197533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:166181086-166181318	GM12878	blood:	n/a	n/a
2	BCL11A	chr4:166181133-166181295	GM12878	blood:	n/a	n/a
3	CBX3	chr4:166194643-166194965	K562	blood:	n/a	n/a
4	CEBPB	chr4:166186771-166186968	HepG2	liver:	n/a	n/a
5	CEBPB	chr4:166186776-166187064	A549	lung:	n/a	n/a
6	CEBPB	chr4:166186757-166187026	IMR90	lung:	n/a	n/a
7	CTCF	chr4:166183579-166183783	GM12878	blood:	n/a	n/a
8	CTCF	chr4:166194501-166194547	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr4:166183631-166183755	GM13977	blood:	n/a	n/a
10	CTCF	chr4:166183636-166183725	MCF-7	breast:	n/a	n/a
11	CTCF	chr4:166183620-166183744	GM10266	blood:	n/a	n/a
12	CTCF	chr4:166183580-166183730	GM06990	blood:	n/a	n/a
13	CTCF	chr4:166183680-166183830	RPTEC	kidney:	n/a	n/a
14	CTCF	chr4:166183625-166183706	GM12878	blood:	n/a	n/a
15	CTCF	chr4:166183611-166183740	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr4:166196039-166196125	ProgFib	skin:	n/a	n/a
17	CTCF	chr4:166183638-166183734	Medullo	brain:	n/a	n/a
18	CTCF	chr4:166183679-166183706	HepG2	liver:	n/a	n/a
19	CTCF	chr4:166183614-166183735	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr4:166183631-166183751	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr4:166183818-166183836	GM12891	blood:	n/a	n/a
22	CTCF	chr4:166183783-166183853	GM12892	blood:	n/a	n/a
23	CTCF	chr4:166184435-166184512	Fibrobl	skin:	n/a	n/a
24	CTCF	chr4:166183560-166183710	SAEC	small airway:	n/a	n/a
25	CTCF	chr4:166183665-166183698	K562	blood:	n/a	n/a
26	FOS	chr4:166180975-166181105	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:166180975-166181173	MCF10A-Er-Src	breast:	n/a	n/a
28	FOSL2	chr4:166191157-166191418	HepG2	liver:	n/a	n/a
29	KAP1	chr4:166194692-166194892	K562	blood:	n/a	n/a
30	MAFK	chr4:166181919-166182034	HepG2	liver:	n/a	n/a
31	MYC	chr4:166180509-166180679	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:166195423-166195557	Gliobla	brain:	n/a	n/a
33	POLR2A	chr4:166196079-166196181	MCF-7	breast:	n/a	n/a
34	POLR2A	chr4:166184810-166184850	ProgFib	skin:	n/a	n/a
35	POLR2A	chr4:166196013-166196169	MCF-7	breast:	n/a	n/a
36	RAD21	chr4:166183447-166183813	HepG2	liver:	n/a	n/a
37	RAD21	chr4:166183559-166183790	SK-N-SH_RA	brain:	n/a	n/a
38	RAD21	chr4:166183547-166183849	HCT-116	colon:	n/a	n/a
39	RAD21	chr4:166183563-166183756	GM12878	blood:	n/a	n/a
40	RAD21	chr4:166183562-166183785	SK-N-SH_RA	brain:	n/a	n/a
41	RAD21	chr4:166183629-166183721	Hela-S3	cervix:	n/a	n/a
42	RAD21	chr4:166183529-166183751	GM12878	blood:	n/a	n/a
43	RUNX3	chr4:166180851-166181326	GM12878	blood:	n/a	n/a
44	SETDB1	chr4:166194573-166194896	U2OS	brain:	n/a	n/a
45	SPI1	chr4:166188346-166188485	K562	blood:	n/a	n/a
46	STAT3	chr4:166182283-166182327	MCF10A-Er-Src	breast:	n/a	n/a
47	TEAD4	chr4:166196816-166197070	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
KLHL2	TF binding region

Extended variants
information (count: 617 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529200846	chr4:166179748-166179749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76930707	chr4:166179763-166179764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181241983	chr4:166179847-166179848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570708604	chr4:166179858-166179859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533488340	chr4:166179865-166179866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186267488	chr4:166179882-166179883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189854670	chr4:166179911-166179912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550160545	chr4:166179923-166179924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4690809	chr4:166180003-166180004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs60197231	chr4:166180008-166180009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182115033	chr4:166180022-166180023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2874662	chr4:166180043-166180044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74873640	chr4:166180052-166180053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535680660	chr4:166180057-166180058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555537413	chr4:166180149-166180150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377093918	chr4:166180178-166180179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2322022	chr4:166180223-166180224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75013326	chr4:166180229-166180230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374180178	chr4:166180238-166180239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56681900	chr4:166180240-166180241	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2874663	chr4:166180258-166180259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372263907	chr4:166180412-166180413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7682337	chr4:166180454-166180455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7658022	chr4:166180461-166180462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538139955	chr4:166180515-166180516	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534967299	chr4:166180579-166180580	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs143533643	chr4:166180580-166180581	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
28	rs577940851	chr4:166180628-166180629	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs148367936	chr4:166180641-166180642	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs554354251	chr4:166180642-166180643	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs572806979	chr4:166180643-166180644	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs563416286	chr4:166180706-166180707	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs141760765	chr4:166180723-166180724	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs150521690	chr4:166180730-166180731	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs367844328	chr4:166180732-166180733	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs528933075	chr4:166180845-166180846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552691008	chr4:166180849-166180850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544495246	chr4:166180896-166180897	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs562742676	chr4:166180923-166180924	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs533278890	chr4:166180940-166180941	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs9992742	chr4:166180955-166180956	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10015050	chr4:166180956-166180957	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115594076	chr4:166180982-166180983	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs556330795	chr4:166180989-166180990	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs549495197	chr4:166181004-166181005	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs201239889	chr4:166181016-166181017	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs17488436	chr4:166181017-166181018	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs564302699	chr4:166181025-166181026	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs537820917	chr4:166181028-166181029	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs202205003	chr4:166181035-166181036	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	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
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	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
2	chr4:166130600-166200800	Weak transcription	Lung	lung
3	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:166132200-166193800	Weak transcription	Fetal Brain Female	brain
5	chr4:166137800-166194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:166138400-166185600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:166156200-166199200	Weak transcription	Ovary	ovary
9	chr4:166170000-166210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:166170600-166209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:166175000-166180000	Enhancers	Fetal Heart	heart
12	chr4:166177000-166183000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr4:166177000-166196000	Weak transcription	Gastric	stomach
14	chr4:166177200-166186800	Weak transcription	Fetal Kidney	kidney
15	chr4:166177200-166192000	Weak transcription	Brain Angular Gyrus	brain
16	chr4:166177200-166218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:166177400-166180600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr4:166177400-166183800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr4:166177400-166185000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:166177400-166185000	Weak transcription	Fetal Intestine Small	intestine
21	chr4:166177400-166187000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:166177400-166199200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:166177400-166201200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:166177400-166201600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:166177400-166204200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:166177400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:166177400-166215200	Weak transcription	Fetal Stomach	stomach
28	chr4:166177400-166216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:166177400-166218600	Weak transcription	Spleen	Spleen
30	chr4:166177400-166219000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:166177600-166182800	Enhancers	Primary T cells from cord blood	blood
32	chr4:166177600-166183200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr4:166177600-166194400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:166177800-166181200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr4:166177800-166191800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr4:166177800-166205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:166178000-166180000	Enhancers	HepG2	liver
38	chr4:166178200-166194600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:166178400-166182000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:166178400-166205600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:166178800-166179800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr4:166178800-166180400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:166178800-166180600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:166178800-166180600	Weak transcription	Dnd41	blood
45	chr4:166178800-166180800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:166178800-166185000	Weak transcription	Liver	Liver
47	chr4:166178800-166191800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr4:166178800-166194600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:166178800-166197200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:166178800-166200600	Weak transcription	Fetal Intestine Large	intestine

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