Variant report

Variant	nsv241900
Chromosome Location	chr4:187125583-187125584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr4:187125220-187125793	K562	blood:	n/a	n/a
2	CBX3	chr4:187125169-187125671	K562	blood:	n/a	n/a
3	CEBPB	chr4:187125299-187125736	K562	blood:	n/a	n/a
4	CEBPB	chr4:187125277-187125735	IMR90	lung:	n/a	n/a
5	CREB1	chr4:187124927-187126111	K562	blood:	n/a	n/a
6	CREB1	chr4:187125094-187125886	K562	blood:	n/a	n/a
7	CTCF	chr4:187125409-187125592	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr4:187125399-187125623	Lung_OC	lung:	n/a	n/a
9	E2F6	chr4:187125568-187125733	K562	blood:	n/a	n/a
10	EGR1	chr4:187125501-187125726	K562	blood:	n/a	n/a
11	EGR1	chr4:187125516-187125755	K562	blood:	n/a	n/a
12	GATA1	chr4:187124567-187125672	PBDE	blood:	n/a	n/a
13	HEY1	chr4:187125565-187125761	K562	blood:	n/a	n/a
14	IRF1	chr4:187124511-187125797	K562	blood:	n/a	n/a
15	IRF1	chr4:187124752-187125815	K562	blood:	n/a	n/a
16	IRF1	chr4:187125385-187125645	K562	blood:	n/a	n/a
17	KAP1	chr4:187125221-187126023	HEK293	kidney:	n/a	n/a
18	MYC	chr4:187125548-187125752	K562	blood:	n/a	n/a
19	POLR2A	chr4:187125569-187125793	K562	blood:	n/a	n/a
20	POLR2A	chr4:187123868-187126585	IMR90	lung:	n/a	n/a
21	POLR2A	chr4:187125133-187125853	HCT-116	colon:	n/a	n/a
22	POLR2A	chr4:187125226-187125878	K562	blood:	n/a	n/a
23	POLR2A	chr4:187124516-187126035	PBDE	blood:	n/a	n/a
24	POLR2A	chr4:187124538-187125814	K562	blood:	n/a	n/a
25	POLR2A	chr4:187125192-187125904	GM12892	blood:	n/a	n/a
26	POLR2A	chr4:187125136-187125834	HCT-116	colon:	n/a	n/a
27	POLR2A	chr4:187125139-187125839	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr4:187125503-187125740	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr4:187125321-187125743	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:187125520-187125671	ProgFib	skin:	n/a	n/a
31	POLR2A	chr4:187125526-187125786	K562	blood:	n/a	n/a
32	RCOR1	chr4:187125241-187125737	K562	blood:	n/a	n/a
33	SETDB1	chr4:187125181-187125802	U2OS	brain:	n/a	n/a
34	SP1	chr4:187125044-187125985	HCT-116	colon:	n/a	n/a
35	TBL1XR1	chr4:187125349-187125811	K562	blood:	n/a	n/a
36	TBP	chr4:187125481-187125797	K562	blood:	n/a	n/a
37	YY1	chr4:187125306-187125714	K562	blood:	n/a	n/a
38	YY1	chr4:187125578-187125750	K562	blood:	n/a	n/a
39	YY1	chr4:187125470-187125781	SK-N-SH_RA	brain:	n/a	n/a
40	ZC3H11A	chr4:187125392-187125583	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187125089..187127684-chr4:187129515..187131962,3	K562	blood:
2	chr4:187109253..187118277-chr4:187122555..187126883,14	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLKB1-1	chr4:187125555-187125762	NONHSAT099648
2	lnc-KLKB1-1	chr4:187125555-187125774	NONHSAT099646

No data

Variant related genes	Relation type
CYP4V2	TF binding region
KLKB1	TF binding region
ENSG00000164344	chromatin interactions
ENSG00000269302	chromatin interactions
ENSG00000145476	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 76 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5864976	chr4:187125583-187125584	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
2	rs398108468	chr4:187125584-187125585	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187113800-187126000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:187113800-187130600	Weak transcription	Stomach Mucosa	stomach
3	chr4:187113800-187131400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:187113800-187132200	Weak transcription	Colonic Mucosa	Colon
5	chr4:187114000-187133200	Weak transcription	HSMM	muscle
6	chr4:187114200-187126000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:187114800-187130000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:187115200-187125600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:187115200-187133600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:187115400-187125600	Weak transcription	Brain Substantia Nigra	brain
11	chr4:187115400-187130400	Weak transcription	Small Intestine	intestine
12	chr4:187117400-187125600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:187117600-187126200	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:187117600-187140600	Weak transcription	Aorta	Aorta
15	chr4:187117800-187125600	Weak transcription	Ovary	ovary
16	chr4:187119800-187129800	Weak transcription	Dnd41	blood
17	chr4:187119800-187130200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:187120000-187125600	Weak transcription	Primary B cells from cord blood	blood
19	chr4:187120000-187127000	Weak transcription	Primary T cells from cord blood	blood
20	chr4:187120000-187129800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:187120200-187125600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:187120200-187126000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:187121800-187132800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:187122000-187129200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:187122000-187130200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:187122400-187125600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr4:187123000-187127800	Strong transcription	Liver	Liver
28	chr4:187123600-187125600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:187123600-187128800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:187123800-187130400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:187124000-187125600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:187124200-187125600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:187124200-187125600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr4:187124400-187125800	Weak transcription	Fetal Brain Male	brain
35	chr4:187124400-187125800	Active TSS	Fetal Kidney	kidney
36	chr4:187124400-187126400	Enhancers	Spleen	Spleen
37	chr4:187124600-187125600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr4:187124600-187126000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:187124600-187126200	Active TSS	Brain Anterior Caudate	brain
40	chr4:187124600-187126200	Enhancers	Fetal Stomach	stomach
41	chr4:187124600-187127200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:187124800-187125600	Weak transcription	Lung	lung
43	chr4:187124800-187125800	Active TSS	Left Ventricle	heart
44	chr4:187124800-187126000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:187124800-187126000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:187124800-187126000	Active TSS	Fetal Thymus	thymus
47	chr4:187124800-187126000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:187124800-187126000	Active TSS	K562	blood
49	chr4:187124800-187126200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:187124800-187126200	Active TSS	Thymus	Thymus

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