Variant report

Variant	nsv878668
Chromosome Location	chr4:9551094-9651413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:393)
CpG islands
(count:673)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:9605857-9606056	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr4:9560631-9560870	GM12878	blood:	n/a	n/a
3	BATF	chr4:9609959-9610276	GM12878	blood:	n/a	n/a
4	BATF	chr4:9637521-9637725	GM12878	blood:	n/a	n/a
5	BATF	chr4:9582818-9583030	GM12878	blood:	n/a	n/a
6	BATF	chr4:9560693-9560899	GM12878	blood:	n/a	n/a
7	BATF	chr4:9606281-9606749	GM12878	blood:	n/a	n/a
8	BATF	chr4:9582796-9583040	GM12878	blood:	n/a	n/a
9	BATF	chr4:9609924-9610228	GM12878	blood:	n/a	n/a
10	BATF	chr4:9606359-9606745	GM12878	blood:	n/a	n/a
11	BATF	chr4:9605704-9606128	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:9605814-9606174	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:9606348-9606693	GM12878	blood:	n/a	n/a
14	BCL11A	chr4:9605779-9606088	GM12878	blood:	n/a	n/a
15	BCL11A	chr4:9637557-9637806	GM12878	blood:	n/a	n/a
16	BCL11A	chr4:9609970-9610277	GM12878	blood:	n/a	n/a
17	BCL11A	chr4:9609991-9610319	GM12878	blood:	n/a	n/a
18	BCL11A	chr4:9606478-9606683	GM12878	blood:	n/a	n/a
19	CBX3	chr4:9597420-9597667	K562	blood:	n/a	n/a
20	CEBPB	chr4:9639784-9639891	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr4:9600979-9601222	K562	blood:	n/a	n/a
22	CEBPB	chr4:9637488-9637693	HepG2	liver:	n/a	chr4:9637617-9637628
23	CEBPB	chr4:9629876-9630149	HepG2	liver:	n/a	chr4:9630037-9630048
24	CEBPB	chr4:9608408-9608590	K562	blood:	n/a	n/a
25	CEBPB	chr4:9596784-9597029	HepG2	liver:	n/a	chr4:9596883-9596894
26	CEBPB	chr4:9605743-9605929	HepG2	liver:	n/a	n/a
27	CEBPB	chr4:9585906-9586106	HepG2	liver:	n/a	chr4:9585991-9586002
28	CEBPD	chr4:9608329-9608642	K562	blood:	n/a	n/a
29	CHD1	chr4:9613391-9613550	GM12878	blood:	n/a	n/a
30	CTCF	chr4:9579540-9579690	MCF-7	breast:	n/a	n/a
31	CTCF	chr4:9585583-9585633	GM10248	blood:	n/a	n/a
32	CTCF	chr4:9645020-9645082	GM13976	blood:	n/a	n/a
33	CTCF	chr4:9624795-9624905	K562	blood:	n/a	n/a
34	CTCF	chr4:9579584-9579726	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chr4:9579520-9579670	Caco-2	colon:	n/a	n/a
36	CTCF	chr4:9579560-9579710	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr4:9624813-9624873	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr4:9579555-9579813	K562	blood:	n/a	n/a
39	CTCF	chr4:9579580-9579730	GM12865	blood:	n/a	n/a
40	CTCF	chr4:9579560-9579710	GM12875	blood:	n/a	n/a
41	CTCF	chr4:9579560-9579710	GM06990	blood:	n/a	n/a
42	CTCF	chr4:9579618-9579757	MCF-7	breast:	n/a	n/a
43	CTCF	chr4:9579482-9579819	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr4:9579627-9579787	NHEK	skin:	n/a	n/a
45	CTCF	chr4:9579690-9579725	GM10248	blood:	n/a	n/a
46	CTCF	chr4:9579580-9579730	BE2_C	brain:	n/a	n/a
47	CTCF	chr4:9579680-9579830	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr4:9579672-9579704	GM20000	blood:	n/a	n/a
49	CTCF	chr4:9621163-9621283	GM10248	blood:	n/a	n/a
50	CTCF	chr4:9579560-9579710	GM12865	blood:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:9601996-9602046	GM19239	blood:	n/a
2	chr4:9604432-9604482	Hepatocyte	liver:	n/a
3	chr4:9601996-9602046	GM19239	blood:	n/a
4	chr4:9604432-9604482	Hepatocyte	liver:	n/a
5	chr4:9558893-9558943	HRPEpiC	eye:	n/a
6	chr4:9558077-9558127	Jurkat	blood:	n/a
7	chr4:9602138-9602188	SK-N-SH_RA	brain:	n/a
8	chr4:9604432-9604482	ProgFib	skin:	n/a
9	chr4:9604340-9604390	AoSMC	blood vessel:	n/a
10	chr4:9604340-9604390	U87	brain:	n/a
11	chr4:9604187-9604237	K562	blood:	n/a
12	chr4:9604187-9604237	SKMC	muscle:	n/a
13	chr4:9604340-9604390	HMEC	breast:	n/a
14	chr4:9604780-9604830	BE2_C	brain:	n/a
15	chr4:9604432-9604482	PANC-1	pancreas:	n/a
16	chr4:9604877-9604927	HUVEC	blood vessel:	n/a
17	chr4:9558077-9558127	NT2-D1	testis:	n/a
18	chr4:9558077-9558127	HIPEpiC	eye:	n/a
19	chr4:9601996-9602046	K562	blood:	n/a
20	chr4:9604877-9604927	SK-N-MC	brain:	n/a
21	chr4:9604877-9604927	SKMC	muscle:	n/a
22	chr4:9558753-9558803	BJ	skin:	n/a
23	chr4:9604187-9604237	GM19239	blood:	n/a
24	chr4:9604187-9604237	T-47D	breast:	n/a
25	chr4:9558077-9558127	MCF-7	breast:	n/a
26	chr4:9604780-9604830	K562	blood:	n/a
27	chr4:9604187-9604237	HCPEpiC	choroid plexus:	n/a
28	chr4:9604187-9604237	CMK	blood:	n/a
29	chr4:9558077-9558127	HPAEpiC	pulmonary alveolar:	n/a
30	chr4:9604340-9604390	GM12892	blood:	n/a
31	chr4:9601996-9602046	GM06990	blood:	n/a
32	chr4:9601996-9602046	T-47D	breast:	n/a
33	chr4:9557805-9557855	IMR90	lung:	fetal
34	chr4:9557805-9557855	MCF-7	breast:	n/a
35	chr4:9557805-9557855	Hepatocyte	liver:	n/a
36	chr4:9558753-9558803	T-47D	breast:	n/a
37	chr4:9604340-9604390	BE2_C	brain:	n/a
38	chr4:9558753-9558803	GM12892	blood:	n/a
39	chr4:9558753-9558803	A549	lung:	n/a
40	chr4:9601996-9602046	AG04449	skin:	fetal
41	chr4:9558753-9558803	GM12878	blood:	n/a
42	chr4:9602138-9602188	AG04450	lung:	fetal
43	chr4:9604340-9604390	HRE	kidney:	n/a
44	chr4:9558077-9558127	RPTEC	kidney:	n/a
45	chr4:9558753-9558803	SK-N-MC	brain:	n/a
46	chr4:9601996-9602046	ovcar-3	ovarian:	n/a
47	chr4:9602138-9602188	MCF10A-Er-Src	breast:	n/a
48	chr4:9604780-9604830	GM12892	blood:	n/a
49	chr4:9558077-9558127	AG09309	skin:	n/a
50	chr4:9601996-9602046	HEEpiC	esophagus:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1396O13.13.1-3	chr4:9555234-9555605	NONHSAT095137

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548i	chr4:9557878-9557899	MIMAT0005935_1

No data

Variant related genes	Relation type
ENSG00000249799	TF binding region
MIR548I2	TF binding region
ENSG00000244004	TF binding region
ENSG00000265901	TF binding region
ENSG00000242034	TF binding region
ENSG00000249799	CpG island
MIR548I2	CpG island
ENSG00000244004	CpG island
ENSG00000265901	CpG island
ENSG00000242034	CpG island

Extended variants
information (count: 7136 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:7136 , 50 per page) page: 1 2 3 4 5 6 7 ... 143

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10001694	chr4:9551094-9551095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142795904	chr4:9551106-9551107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185408196	chr4:9551168-9551169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146058680	chr4:9551169-9551170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559849831	chr4:9551180-9551181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77257636	chr4:9551210-9551211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79291025	chr4:9551211-9551212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530238244	chr4:9551232-9551233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548713004	chr4:9551248-9551249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140027957	chr4:9551252-9551253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531409179	chr4:9551257-9551258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189879531	chr4:9551266-9551267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181449522	chr4:9551270-9551271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570144391	chr4:9551287-9551288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534292532	chr4:9551296-9551297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546306324	chr4:9551298-9551299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149432676	chr4:9551308-9551309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6854873	chr4:9551325-9551326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148565531	chr4:9551333-9551334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113135316	chr4:9551337-9551338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188171460	chr4:9551342-9551343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539747453	chr4:9551357-9551358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558054068	chr4:9551362-9551363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181015136	chr4:9551374-9551375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372659223	chr4:9551375-9551376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386671499	chr4:9551409-9551410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34672750	chr4:9551410-9551411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532492582	chr4:9551414-9551415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182004746	chr4:9551420-9551421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574920087	chr4:9551422-9551423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145516101	chr4:9551451-9551452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187043099	chr4:9551452-9551453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547551807	chr4:9551476-9551477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546112686	chr4:9551480-9551481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547713352	chr4:9551492-9551493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564406557	chr4:9551513-9551514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566043253	chr4:9551514-9551515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191432782	chr4:9551524-9551525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183299389	chr4:9551525-9551526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567961382	chr4:9551526-9551527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375776036	chr4:9551553-9551554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551920453	chr4:9551557-9551558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186532761	chr4:9551573-9551574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550381717	chr4:9551579-9551580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569054195	chr4:9551591-9551592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189669593	chr4:9551606-9551607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558092463	chr4:9551612-9551613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147597415	chr4:9551620-9551621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534075486	chr4:9551690-9551691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548329187	chr4:9551699-9551700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9544200-9552600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:9545600-9558000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:9546800-9552600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:9548000-9553000	Weak transcription	Fetal Thymus	thymus
5	chr4:9550000-9551400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:9552600-9553000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr4:9552600-9553000	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr4:9560800-9561400	Enhancers	Stomach Mucosa	stomach
9	chr4:9563800-9575800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:9569200-9572600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:9579600-9582200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:9583000-9584400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr4:9583200-9584200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr4:9583400-9586400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:9583600-9583800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:9583800-9596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:9584200-9584400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr4:9584400-9585400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr4:9584400-9585800	Enhancers	Colonic Mucosa	Colon
20	chr4:9584400-9586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:9584600-9585400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:9585600-9605400	Weak transcription	Fetal Brain Male	brain
23	chr4:9586000-9586200	Enhancers	Fetal Intestine Small	intestine
24	chr4:9586000-9586200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr4:9586000-9586200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr4:9586200-9597400	Weak transcription	Fetal Intestine Small	intestine
27	chr4:9594000-9594200	ZNF genes & repeats	Fetal Thymus	thymus
28	chr4:9594200-9596800	Weak transcription	Fetal Thymus	thymus
29	chr4:9594800-9603400	Weak transcription	Fetal Lung	lung
30	chr4:9595200-9605600	Weak transcription	Ovary	ovary
31	chr4:9595400-9603400	Weak transcription	Primary T cells from cord blood	blood
32	chr4:9596200-9596800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
33	chr4:9596200-9597200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:9596400-9597200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr4:9596600-9597000	Enhancers	Thymus	Thymus
36	chr4:9596600-9597600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr4:9596600-9597600	Enhancers	Stomach Mucosa	stomach
38	chr4:9596600-9600800	Weak transcription	Fetal Intestine Large	intestine
39	chr4:9596800-9597600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr4:9596800-9600400	Enhancers	Fetal Thymus	thymus
41	chr4:9597000-9597200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr4:9597200-9599600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:9597400-9597800	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr4:9597600-9597800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr4:9597600-9605000	Weak transcription	Stomach Mucosa	stomach
46	chr4:9597800-9600800	Weak transcription	Fetal Intestine Small	intestine
47	chr4:9598600-9598800	Enhancers	Small Intestine	intestine
48	chr4:9598800-9603400	Weak transcription	Small Intestine	intestine
49	chr4:9598800-9605400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:9599000-9600600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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