Variant report

Variant	nsv980509
Chromosome Location	chr4:100155696-100175027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:100170960-100171140	HepG2	liver:	n/a	chr4:100171001-100171012
2	CEBPB	chr4:100170957-100171052	H1-hESC	embryonic stem cell:	n/a	chr4:100171001-100171012
3	CTCF	chr4:100166432-100166448	GM13977	blood:	n/a	n/a
4	CTCF	chr4:100160030-100160136	GM13976	blood:	n/a	n/a
5	CTCF	chr4:100169757-100169808	GM20000	blood:	n/a	n/a
6	E2F4	chr4:100170073-100170110	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr4:100169884-100170199	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr4:100169889-100170202	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr4:100169888-100170178	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr4:100169906-100170202	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA1	chr4:100162710-100163106	HepG2	liver:	n/a	n/a
12	FOXA1	chr4:100162813-100163160	HepG2	liver:	n/a	n/a
13	FOXA1	chr4:100156997-100157451	HepG2	liver:	n/a	n/a
14	FOXA1	chr4:100167032-100167332	HepG2	liver:	n/a	n/a
15	FOXA1	chr4:100162864-100163069	HepG2	liver:	n/a	n/a
16	FOXA2	chr4:100157168-100157328	HepG2	liver:	n/a	n/a
17	FOXA2	chr4:100162848-100163088	HepG2	liver:	n/a	n/a
18	FOXA2	chr4:100167074-100167271	HepG2	liver:	n/a	n/a
19	GATA3	chr4:100170061-100170194	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr4:100169930-100170381	MCF-7	breast:	n/a	n/a
21	MAFK	chr4:100159720-100159775	HepG2	liver:	n/a	n/a
22	MAFK	chr4:100159672-100159835	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:100156259-100156776	K562	blood:	n/a	n/a
24	POLR2A	chr4:100172983-100173016	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr4:100161675-100161829	K562	blood:	n/a	n/a
26	POLR2A	chr4:100155368-100156052	K562	blood:	n/a	n/a
27	POLR2A	chr4:100159885-100159976	K562	blood:	n/a	n/a
28	POLR2A	chr4:100158513-100158620	K562	blood:	n/a	n/a
29	POLR2A	chr4:100163717-100163819	K562	blood:	n/a	n/a
30	POLR2A	chr4:100162172-100163402	K562	blood:	n/a	n/a
31	POLR2A	chr4:100157362-100157765	K562	blood:	n/a	n/a
32	SPI1	chr4:100172417-100172850	HL-60	blood:	n/a	n/a
33	STAT3	chr4:100156809-100156946	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr4:100156305-100156357	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr4:100169961-100170126	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr4:100174684-100174790	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr4:100170001-100170208	MCF10A-Er-Src	breast:	n/a	n/a
38	TBP	chr4:100174540-100174791	GM12878	blood:	n/a	n/a
39	TBP	chr4:100174584-100174749	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100174038-100174088	ECC-1	luminal epithelium:	n/a
2	chr4:100174038-100174088	GM12892	blood:	n/a
3	chr4:100174038-100174088	MCF-7	breast:	n/a
4	chr4:100174038-100174088	GM19239	blood:	n/a
5	chr4:100174038-100174088	SK-N-SH	brain:	n/a
6	chr4:100174038-100174088	HL-60	blood:	n/a
7	chr4:100174038-100174088	SK-N-SH_RA	brain:	n/a
8	chr4:100174038-100174088	HPAEpiC	pulmonary alveolar:	n/a
9	chr4:100174038-100174088	AG09309	skin:	n/a
10	chr4:100174038-100174088	A549	lung:	n/a
11	chr4:100174038-100174088	MCF10A-Er-Src	breast:	n/a
12	chr4:100174038-100174088	HIPEpiC	eye:	n/a
13	chr4:100174038-100174088	GM06990	blood:	n/a
14	chr4:100174038-100174088	NT2-D1	testis:	n/a
15	chr4:100174038-100174088	GM12891	blood:	n/a
16	chr4:100174038-100174088	T-47D	breast:	n/a
17	chr4:100174038-100174088	SAEC	small airway:	n/a
18	chr4:100174038-100174088	HCPEpiC	choroid plexus:	n/a
19	chr4:100174038-100174088	AG10803	skin:	n/a
20	chr4:100174038-100174088	HEK293	kidney:	embryo
21	chr4:100174038-100174088	AoSMC	blood vessel:	n/a
22	chr4:100174038-100174088	U87	brain:	n/a
23	chr4:100174038-100174088	ProgFib	skin:	n/a
24	chr4:100174038-100174088	NH-A	brain:	n/a
25	chr4:100174038-100174088	AG09319	gingival:	n/a
26	chr4:100174038-100174088	HRCEpiC	kidney:	n/a
27	chr4:100174038-100174088	ovcar-3	ovarian:	n/a
28	chr4:100174038-100174088	NB4	blood:	n/a
29	chr4:100174038-100174088	PANC-1	pancreas:	n/a
30	chr4:100174038-100174088	GM12878	blood:	n/a
31	chr4:100174038-100174088	HCT-116	colon:	n/a
32	chr4:100174038-100174088	HepG2	liver:	n/a
33	chr4:100174038-100174088	NHDF-neo	bronchial:	n/a
34	chr4:100174038-100174088	IMR90	lung:	fetal
35	chr4:100174038-100174088	HUVEC	blood vessel:	n/a
36	chr4:100174038-100174088	HEEpiC	esophagus:	n/a
37	chr4:100174038-100174088	BJ	skin:	n/a
38	chr4:100174038-100174088	Jurkat	blood:	n/a
39	chr4:100174038-100174088	H1-hESC	embryonic stem cell:	embryo
40	chr4:100174038-100174088	NHBE	bronchial:	n/a
41	chr4:100174038-100174088	Hela-S3	cervix:	n/a
42	chr4:100174038-100174088	HCF	heart:	n/a
43	chr4:100174038-100174088	HAEpiC	amniotic membrane:	n/a
44	chr4:100174038-100174088	HRPEpiC	eye:	n/a
45	chr4:100174038-100174088	BE2_C	brain:	n/a
46	chr4:100174038-100174088	LNCaP	prostate:	n/a
47	chr4:100174038-100174088	SK-N-MC	brain:	n/a
48	chr4:100174038-100174088	HCM	heart:	n/a
49	chr4:100174038-100174088	K562	blood:	n/a
50	chr4:100174038-100174088	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100156930..100159755-chr4:100162612..100165186,2	K562	blood:
2	chr4:100156930..100159755-chr4:100162612..100165186,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METAP1-3	chr4:100173992-100174289	ENSG00000246090

No data

Variant related genes	Relation type
ENSG00000246090	TF binding region
ENSG00000246090	CpG island

Extended variants
information (count: 658 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189303704	chr4:100155717-100155718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562757035	chr4:100155779-100155780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529953495	chr4:100155790-100155791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180891663	chr4:100155797-100155798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567296710	chr4:100155838-100155839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559937273	chr4:100155888-100155889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150597380	chr4:100155896-100155897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116586759	chr4:100155920-100155921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570491942	chr4:100155955-100155956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531332470	chr4:100155962-100155963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370210613	chr4:100155963-100155964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543730297	chr4:100156010-100156011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386677721	chr4:100156012-100156013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549512527	chr4:100156014-100156015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568704217	chr4:100156105-100156106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531165267	chr4:100156156-100156157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111505786	chr4:100156177-100156178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140865905	chr4:100156209-100156210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536180325	chr4:100156285-100156286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554536500	chr4:100156370-100156371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375834009	chr4:100156385-100156386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540079900	chr4:100156420-100156421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558280793	chr4:100156457-100156458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183962994	chr4:100156559-100156560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188238450	chr4:100156581-100156582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550451534	chr4:100156651-100156652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115591107	chr4:100156777-100156778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574646970	chr4:100156796-100156797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7694752	chr4:100156888-100156889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6532811	chr4:100156892-100156893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181402107	chr4:100156894-100156895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545637596	chr4:100156898-100156899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554440505	chr4:100156904-100156905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564159026	chr4:100156916-100156917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1230015	chr4:100156953-100156954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs58660705	chr4:100157010-100157011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139550490	chr4:100157016-100157017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76503222	chr4:100157085-100157086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60468511	chr4:100157132-100157133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566423824	chr4:100157134-100157135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372807450	chr4:100157158-100157159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539993487	chr4:100157188-100157189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551693061	chr4:100157310-100157311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570099535	chr4:100157315-100157316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543425661	chr4:100157361-100157362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556437479	chr4:100157369-100157370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76580246	chr4:100157372-100157373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186418281	chr4:100157378-100157379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191667236	chr4:100157379-100157380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559965920	chr4:100157411-100157412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100148600-100160400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:100154800-100156200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:100155400-100156200	Enhancers	Placenta	Placenta
4	chr4:100155600-100156000	Enhancers	Aorta	Aorta
5	chr4:100155600-100156200	Enhancers	NHDF-Ad	bronchial
6	chr4:100155600-100156400	Enhancers	Adipose Nuclei	Adipose
7	chr4:100155600-100160400	Weak transcription	Ovary	ovary
8	chr4:100155800-100156200	Enhancers	Esophagus	oesophagus
9	chr4:100155800-100156400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr4:100156400-100157400	Weak transcription	Adipose Nuclei	Adipose
11	chr4:100157200-100157800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr4:100157200-100157800	Enhancers	HepG2	liver
13	chr4:100157400-100157800	Enhancers	Adipose Nuclei	Adipose
14	chr4:100157600-100157800	Enhancers	Aorta	Aorta
15	chr4:100160400-100160600	ZNF genes & repeats	Ovary	ovary
16	chr4:100160400-100160800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:100160800-100168600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:100168400-100169800	Enhancers	HepG2	liver
19	chr4:100168600-100168800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:100168600-100169200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:100168600-100169800	Enhancers	Esophagus	oesophagus
22	chr4:100168800-100169000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:100168800-100169200	Enhancers	Aorta	Aorta
24	chr4:100169000-100169400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:100169000-100169600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:100169600-100169800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr4:100169800-100173400	Weak transcription	Esophagus	oesophagus
28	chr4:100169800-100173800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:100169800-100184800	Weak transcription	Aorta	Aorta
30	chr4:100173000-100173800	Enhancers	Fetal Lung	lung
31	chr4:100173000-100174000	Enhancers	Adipose Nuclei	Adipose
32	chr4:100173200-100173800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:100173400-100173800	Enhancers	Colon Smooth Muscle	Colon
34	chr4:100173400-100174000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:100173400-100174200	Enhancers	Esophagus	oesophagus
36	chr4:100173400-100175000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:100173400-100175000	Enhancers	NHEK	skin
38	chr4:100173600-100174600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:100173800-100174600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:100173800-100174800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:100173800-100174800	Enhancers	HMEC	breast

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