Variant report

Variant	nsv967764
Chromosome Location	chr4:76871039-76872073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:76871584-76871592	GM13976	blood:	n/a	n/a
2	CTCF	chr4:76871640-76871790	AG09319	gingival:	n/a	n/a
3	FOXA1	chr4:76871352-76871757	HepG2	liver:	n/a	chr4:76871528-76871543 chr4:76871543-76871558
4	FOXA1	chr4:76871433-76871772	HepG2	liver:	n/a	chr4:76871528-76871543 chr4:76871543-76871558
5	FOXA2	chr4:76871463-76871604	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:76871781-76871955	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr4:76870937-76871099	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76871621-76871671	SKMC	muscle:	n/a
2	chr4:76871621-76871671	HEK293	kidney:	embryo
3	chr4:76871621-76871671	MCF10A-Er-Src	breast:	n/a
4	chr4:76871621-76871671	ECC-1	luminal epithelium:	n/a
5	chr4:76871621-76871671	GM12891	blood:	n/a
6	chr4:76871621-76871671	CMK	blood:	n/a
7	chr4:76871621-76871671	HPAEpiC	pulmonary alveolar:	n/a
8	chr4:76871621-76871671	BJ	skin:	n/a
9	chr4:76871621-76871671	AoSMC	blood vessel:	n/a
10	chr4:76871621-76871671	NH-A	brain:	n/a
11	chr4:76871621-76871671	SAEC	small airway:	n/a
12	chr4:76871621-76871671	IMR90	lung:	fetal
13	chr4:76871621-76871671	K562	blood:	n/a
14	chr4:76871621-76871671	MCF-7	breast:	n/a
15	chr4:76871621-76871671	HCT-116	colon:	n/a
16	chr4:76871621-76871671	GM12892	blood:	n/a
17	chr4:76871621-76871671	HCF	heart:	n/a
18	chr4:76871621-76871671	HRCEpiC	kidney:	n/a
19	chr4:76871621-76871671	NHBE	bronchial:	n/a
20	chr4:76871621-76871671	HIPEpiC	eye:	n/a
21	chr4:76871621-76871671	PrEC	prostate:	n/a
22	chr4:76871621-76871671	PFSK-1	brain:	n/a
23	chr4:76871621-76871671	H1-hESC	embryonic stem cell:	embryo
24	chr4:76871621-76871671	AG09319	gingival:	n/a
25	chr4:76871621-76871671	Hepatocyte	liver:	n/a
26	chr4:76871621-76871671	HNPCEpiC	eye:	n/a
27	chr4:76871621-76871671	Hela-S3	cervix:	n/a
28	chr4:76871621-76871671	ProgFib	skin:	n/a
29	chr4:76871621-76871671	AG09309	skin:	n/a
30	chr4:76871621-76871671	SK-N-SH_RA	brain:	n/a
31	chr4:76871621-76871671	GM12878	blood:	n/a
32	chr4:76871621-76871671	HEEpiC	esophagus:	n/a
33	chr4:76871621-76871671	LNCaP	prostate:	n/a
34	chr4:76871621-76871671	T-47D	breast:	n/a
35	chr4:76871621-76871671	NT2-D1	testis:	n/a
36	chr4:76871621-76871671	AG04449	skin:	fetal
37	chr4:76871621-76871671	HRPEpiC	eye:	n/a
38	chr4:76871621-76871671	NHDF-neo	bronchial:	n/a
39	chr4:76871621-76871671	SK-N-MC	brain:	n/a
40	chr4:76871621-76871671	U87	brain:	n/a
41	chr4:76871621-76871671	NB4	blood:	n/a
42	chr4:76871621-76871671	HUVEC	blood vessel:	n/a
43	chr4:76871621-76871671	AG10803	skin:	n/a
44	chr4:76871621-76871671	A549	lung:	n/a
45	chr4:76871621-76871671	HepG2	liver:	n/a
46	chr4:76871621-76871671	HCPEpiC	choroid plexus:	n/a
47	chr4:76871621-76871671	Caco-2	colon:	n/a
48	chr4:76871621-76871671	RPTEC	kidney:	n/a
49	chr4:76871621-76871671	ovcar-3	ovarian:	n/a
50	chr4:76871621-76871671	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76861526..76863582-chr4:76870984..76872556,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268788	TF binding region
ENSG00000268788	CpG island
ENSG00000138744	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572564929	chr4:76871054-76871055	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs77493407	chr4:76871066-76871067	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573952761	chr4:76871067-76871068	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs542943660	chr4:76871074-76871075	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190553448	chr4:76871122-76871123	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7154	chr4:76871183-76871184	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs694752	chr4:76871231-76871232	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369884689	chr4:76871253-76871254	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35619548	chr4:76871287-76871288	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs61039777	chr4:76871288-76871289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140415777	chr4:76871294-76871295	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531686774	chr4:76871298-76871299	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs377027882	chr4:76871301-76871302	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572395464	chr4:76871379-76871380	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543450755	chr4:76871388-76871389	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541113551	chr4:76871391-76871392	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533820	chr4:76871400-76871401	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs116439956	chr4:76871447-76871448	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532322132	chr4:76871470-76871471	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs369016050	chr4:76871553-76871554	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs114909003	chr4:76871573-76871574	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs9993585	chr4:76871580-76871581	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs28760388	chr4:76871584-76871585	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs373324313	chr4:76871607-76871608	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547396759	chr4:76871612-76871613	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs565926457	chr4:76871644-76871645	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs369531879	chr4:76871659-76871660	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533166461	chr4:76871676-76871677	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181866177	chr4:76871677-76871678	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs144188302	chr4:76871740-76871741	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs369113207	chr4:76871834-76871835	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs537130432	chr4:76871846-76871847	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184602971	chr4:76871853-76871854	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567174662	chr4:76871857-76871858	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs534578726	chr4:76871884-76871885	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372196702	chr4:76871899-76871900	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139004992	chr4:76871920-76871921	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142220259	chr4:76871923-76871924	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145814675	chr4:76871940-76871941	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376854072	chr4:76871941-76871942	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138382679	chr4:76871949-76871950	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550315018	chr4:76871959-76871960	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201934600	chr4:76871978-76871979	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368245315	chr4:76871979-76871980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs17001265	chr4:76872009-76872010	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563562678	chr4:76872065-76872066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76862000-76871600	Weak transcription	Fetal Kidney	kidney
2	chr4:76862000-76875600	Weak transcription	Fetal Heart	heart
3	chr4:76862000-76896600	Weak transcription	Stomach Mucosa	stomach
4	chr4:76862200-76875200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:76862200-76876400	Weak transcription	Gastric	stomach
6	chr4:76862200-76876600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:76862200-76886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:76862400-76873400	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:76862400-76875400	Weak transcription	Spleen	Spleen
10	chr4:76862400-76876600	Weak transcription	Aorta	Aorta
11	chr4:76862400-76876600	Weak transcription	Small Intestine	intestine
12	chr4:76862600-76871400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:76862600-76871400	Weak transcription	Right Ventricle	heart
14	chr4:76862600-76871600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:76862600-76872000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:76862600-76872000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:76862600-76873200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:76862600-76873400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:76862600-76873400	Weak transcription	NHLF	lung
20	chr4:76862600-76873600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:76862600-76874400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:76862600-76876000	Weak transcription	Psoas Muscle	Psoas
23	chr4:76862600-76876400	Weak transcription	Esophagus	oesophagus
24	chr4:76862600-76876400	Weak transcription	Fetal Brain Male	brain
25	chr4:76862600-76876400	Weak transcription	Pancreas	Pancrea
26	chr4:76862600-76876800	Weak transcription	Hela-S3	cervix
27	chr4:76863000-76903600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:76863800-76884600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:76864600-76884800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:76864800-76875200	Strong transcription	HSMM	muscle
31	chr4:76864800-76883800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:76864800-76884400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:76864800-76884600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:76864800-76903000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:76866200-76883000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:76866400-76886800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:76866600-76883000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:76867400-76874000	Strong transcription	Brain Hippocampus Middle	brain
39	chr4:76867400-76875200	Strong transcription	NHDF-Ad	bronchial
40	chr4:76867400-76882600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr4:76867400-76882800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:76867400-76883000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr4:76867400-76883200	Strong transcription	Osteobl	bone
44	chr4:76867400-76885600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:76867400-76886600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:76867800-76871800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:76867800-76872200	Strong transcription	Fetal Muscle Leg	muscle
48	chr4:76867800-76875400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:76867800-76882800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:76867800-76883000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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