Variant report

Variant	nsv966338
Chromosome Location	chr4:166176361-166179748
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	ATF2	chr4:166176536-166176974	GM12878	blood:	n/a	n/a
2	BATF	chr4:166176572-166177007	GM12878	blood:	n/a	n/a
3	BATF	chr4:166176565-166176922	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:166176571-166176978	GM12878	blood:	n/a	n/a
5	BCLAF1	chr4:166176545-166176926	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:166177546-166177721	HepG2	liver:	n/a	n/a
7	BHLHE40	chr4:166176621-166176807	GM12878	blood:	n/a	n/a
8	CEBPB	chr4:166177643-166177786	HepG2	liver:	n/a	chr4:166177685-166177696
9	CEBPB	chr4:166177527-166177806	HepG2	liver:	n/a	chr4:166177685-166177696
10	CEBPB	chr4:166177602-166177792	HepG2	liver:	n/a	chr4:166177685-166177696
11	CEBPB	chr4:166177524-166177823	HepG2	liver:	n/a	chr4:166177685-166177696
12	CTCF	chr4:166176777-166176865	Spleen_OC	spleen:	n/a	n/a
13	EBF1	chr4:166176557-166177011	GM12878	blood:	n/a	n/a
14	EP300	chr4:166177467-166177806	HepG2	liver:	n/a	n/a
15	EP300	chr4:166177453-166177811	HepG2	liver:	n/a	n/a
16	FOS	chr4:166176610-166176910	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL2	chr4:166177442-166177786	HepG2	liver:	n/a	n/a
18	FOSL2	chr4:166177479-166177821	HepG2	liver:	n/a	n/a
19	FOXA1	chr4:166177101-166177942	HepG2	liver:	n/a	n/a
20	FOXA1	chr4:166178820-166179275	HepG2	liver:	n/a	n/a
21	FOXA1	chr4:166177113-166177873	HepG2	liver:	n/a	n/a
22	FOXA2	chr4:166177635-166177784	HepG2	liver:	n/a	n/a
23	FOXA2	chr4:166177177-166177448	HepG2	liver:	n/a	n/a
24	HEY1	chr4:166177463-166177734	HepG2	liver:	n/a	n/a
25	HEY1	chr4:166176684-166177087	HepG2	liver:	n/a	n/a
26	HEY1	chr4:166177232-166177900	HepG2	liver:	n/a	n/a
27	HNF4A	chr4:166177505-166177778	HepG2	liver:	n/a	n/a
28	HNF4G	chr4:166177631-166177806	HepG2	liver:	n/a	chr4:166177725-166177740
29	IRF4	chr4:166176569-166176980	GM12878	blood:	n/a	n/a
30	JUND	chr4:166177490-166177770	HepG2	liver:	n/a	n/a
31	JUND	chr4:166177513-166177754	HepG2	liver:	n/a	n/a
32	MYBL2	chr4:166177108-166177893	HepG2	liver:	n/a	n/a
33	MYBL2	chr4:166177128-166177953	HepG2	liver:	n/a	n/a
34	MYC	chr4:166177564-166177716	HepG2	liver:	n/a	n/a
35	NFIC	chr4:166176536-166176864	ECC-1	luminal epithelium:	n/a	chr4:166176730-166176746
36	NFIC	chr4:166176408-166177067	GM12878	blood:	n/a	chr4:166176730-166176746
37	NFIC	chr4:166177180-166177890	HepG2	liver:	n/a	n/a
38	NFIC	chr4:166177615-166177839	HepG2	liver:	n/a	n/a
39	PAX5	chr4:166176690-166176891	GM12892	blood:	n/a	chr4:166176810-166176829 chr4:166176813-166176830 chr4:166176811-166176829 chr4:166176820-166176829
40	PAX5	chr4:166176603-166176983	GM12878	blood:	n/a	chr4:166176810-166176829 chr4:166176813-166176830 chr4:166176811-166176829 chr4:166176820-166176829
41	PAX5	chr4:166176512-166177043	GM12878	blood:	n/a	chr4:166176810-166176829 chr4:166176813-166176830 chr4:166176811-166176829 chr4:166176820-166176829
42	PAX5	chr4:166176604-166177008	GM12891	blood:	n/a	chr4:166176810-166176829 chr4:166176813-166176830 chr4:166176811-166176829 chr4:166176820-166176829
43	PAX5	chr4:166176503-166177171	GM12878	blood:	n/a	chr4:166176810-166176829 chr4:166176813-166176830 chr4:166176811-166176829 chr4:166176820-166176829
44	PAX5	chr4:166176553-166177010	GM12892	blood:	n/a	chr4:166176810-166176829 chr4:166176813-166176830 chr4:166176811-166176829 chr4:166176820-166176829
45	PAX5	chr4:166176555-166177022	GM12878	blood:	n/a	chr4:166176810-166176829 chr4:166176813-166176830 chr4:166176811-166176829 chr4:166176820-166176829
46	PAX5	chr4:166176604-166177048	GM12891	blood:	n/a	chr4:166176810-166176829 chr4:166176813-166176830 chr4:166176811-166176829 chr4:166176820-166176829
47	POLR2A	chr4:166177379-166177797	HepG2	liver:	n/a	n/a
48	POLR2A	chr4:166177525-166177638	HepG2	liver:	n/a	n/a
49	POLR2A	chr4:166176538-166176956	GM12878	blood:	n/a	n/a
50	POLR2A	chr4:166177451-166177685	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166174096..166176952-chr4:166248446..166250542,2	MCF-7	breast:

Variant related genes	Relation type
KLHL2	TF binding region
ENSG00000052802	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374183414	chr4:166176362-166176363	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184181360	chr4:166176386-166176387	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190757519	chr4:166176419-166176420	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571928003	chr4:166176436-166176437	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181835705	chr4:166176544-166176545	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552272648	chr4:166176546-166176547	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552389658	chr4:166176551-166176552	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554285800	chr4:166176553-166176554	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141996369	chr4:166176554-166176555	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543313614	chr4:166176577-166176578	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs28639890	chr4:166176586-166176587	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576665100	chr4:166176589-166176590	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144828994	chr4:166176621-166176622	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111750905	chr4:166176626-166176627	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531642004	chr4:166176631-166176632	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377012501	chr4:166176632-166176633	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186030414	chr4:166176640-166176641	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548478616	chr4:166176647-166176648	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530158236	chr4:166176698-166176699	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188929377	chr4:166176699-166176700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138661572	chr4:166176704-166176705	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531229083	chr4:166176739-166176740	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552946327	chr4:166176740-166176741	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571042820	chr4:166176761-166176762	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141890812	chr4:166176766-166176767	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546902535	chr4:166176774-166176775	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114088242	chr4:166176790-166176791	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535976226	chr4:166176834-166176835	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554505294	chr4:166176838-166176839	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181378082	chr4:166176840-166176841	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs186596500	chr4:166176886-166176887	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558454971	chr4:166176970-166176971	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs576606567	chr4:166177006-166177007	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs115136605	chr4:166177041-166177042	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs191046473	chr4:166177103-166177104	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs72699598	chr4:166177121-166177122	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs182958653	chr4:166177123-166177124	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs563664211	chr4:166177159-166177160	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs534236140	chr4:166177174-166177175	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs79749535	chr4:166177193-166177194	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs546497307	chr4:166177206-166177207	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139186313	chr4:166177234-166177235	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs547469842	chr4:166177293-166177294	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547133597	chr4:166177348-166177349	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568564858	chr4:166177373-166177374	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529792257	chr4:166177415-166177416	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs191190505	chr4:166177433-166177434	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs183354868	chr4:166177483-166177484	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs187689017	chr4:166177484-166177485	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs192184354	chr4:166177533-166177534	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	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	17122850	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
2	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:166130600-166200800	Weak transcription	Lung	lung
4	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:166132200-166193800	Weak transcription	Fetal Brain Female	brain
6	chr4:166136000-166176800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:166137800-166194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:166138400-166185600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:166142800-166176800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:166147000-166176400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:166152000-166176600	Weak transcription	Fetal Stomach	stomach
13	chr4:166156200-166199200	Weak transcription	Ovary	ovary
14	chr4:166161200-166176800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:166161600-166176400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr4:166167400-166177000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:166170000-166176400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:166170000-166210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:166170400-166176400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:166170600-166176600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:166170600-166209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:166170800-166176400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:166175000-166176400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr4:166175000-166176800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:166175000-166176800	Enhancers	Brain Anterior Caudate	brain
26	chr4:166175000-166180000	Enhancers	Fetal Heart	heart
27	chr4:166175200-166176800	Weak transcription	Fetal Intestine Large	intestine
28	chr4:166175400-166176800	Weak transcription	Right Ventricle	heart
29	chr4:166175400-166177400	Weak transcription	Brain Germinal Matrix	brain
30	chr4:166175600-166176800	Enhancers	HepG2	liver
31	chr4:166175800-166177200	Enhancers	Brain Angular Gyrus	brain
32	chr4:166175800-166177400	Enhancers	Brain Substantia Nigra	brain
33	chr4:166175800-166177400	Enhancers	GM12878-XiMat	blood
34	chr4:166175800-166177400	Enhancers	HUVEC	blood vessel
35	chr4:166176000-166176800	Enhancers	Brain Hippocampus Middle	brain
36	chr4:166176000-166176800	Enhancers	Dnd41	blood
37	chr4:166176000-166177000	Enhancers	Primary T cells from cord blood	blood
38	chr4:166176000-166177000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr4:166176000-166177000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:166176000-166177000	Enhancers	Liver	Liver
41	chr4:166176000-166177200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr4:166176000-166177400	Enhancers	Adipose Nuclei	Adipose
43	chr4:166176000-166177400	Enhancers	Spleen	Spleen
44	chr4:166176000-166177600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:166176000-166177800	Enhancers	Primary B cells from peripheral blood	blood
46	chr4:166176000-166177800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:166176000-166178800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr4:166176200-166176600	Enhancers	K562	blood
49	chr4:166176200-166176800	Enhancers	Primary B cells from cord blood	blood
50	chr4:166176200-166176800	Enhancers	Brain Cingulate Gyrus	brain

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