Variant report

Variant	esv3414979
Chromosome Location	chr4:26317104-26319302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr4:26317172-26317561	K562	blood:	n/a	n/a
2	CBX3	chr4:26317247-26317535	K562	blood:	n/a	n/a
3	CTCF	chr4:26317220-26317286	Lung_OC	lung:	n/a	n/a
4	EP300	chr4:26316932-26317272	HepG2	liver:	n/a	n/a
5	FOXA1	chr4:26316905-26317311	HepG2	liver:	n/a	n/a
6	KAP1	chr4:26317147-26317503	HEK293	kidney:	n/a	n/a
7	KAP1	chr4:26317064-26317552	K562	blood:	n/a	n/a
8	KAP1	chr4:26317196-26317380	U2OS	brain:	n/a	n/a
9	RXRA	chr4:26316921-26317307	HepG2	liver:	n/a	n/a
10	SETDB1	chr4:26317032-26317566	U2OS	brain:	n/a	n/a
11	SP1	chr4:26316917-26317405	HepG2	liver:	n/a	n/a
12	TCF12	chr4:26316965-26317287	HepG2	liver:	n/a	n/a
13	TRIM28	chr4:26317105-26317593	K562	blood:	n/a	n/a
14	ZNF143	chr4:26317252-26317404	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZNF384	chr4:26318381-26318609	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:26273779..26276561-chr4:26318606..26321595,2	MCF-7	breast:
2	chr4:26319239..26325766-chr4:26360124..26364446,7	MCF-7	breast:
3	chr4:26318834..26320354-chr4:26320739..26323636,2	MCF-7	breast:
4	chr4:26315665..26317783-chr4:26319745..26322175,3	MCF-7	breast:

No data

Variant related genes	Relation type
RBPJ	TF binding region
ENSG00000168214	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555171195	chr4:26317124-26317125	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575088791	chr4:26317131-26317132	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs6448449	chr4:26317164-26317165	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535128491	chr4:26317185-26317186	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs554188548	chr4:26317211-26317212	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577162086	chr4:26317212-26317213	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111613083	chr4:26317254-26317255	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs562621070	chr4:26317255-26317256	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs192704887	chr4:26317259-26317260	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs9685263	chr4:26317277-26317278	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544018724	chr4:26317299-26317300	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183437966	chr4:26317335-26317336	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs187538879	chr4:26317341-26317342	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530003113	chr4:26317396-26317397	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546575143	chr4:26317413-26317414	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs34078062	chr4:26317414-26317415	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs34738066	chr4:26317472-26317473	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs566503115	chr4:26317473-26317474	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs531994398	chr4:26317553-26317554	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs552327359	chr4:26317554-26317555	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs574857963	chr4:26317611-26317612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191382777	chr4:26317620-26317621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141148549	chr4:26317636-26317637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183685487	chr4:26317639-26317640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568559241	chr4:26317693-26317694	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534553827	chr4:26317748-26317749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150729337	chr4:26317823-26317824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577197014	chr4:26317837-26317838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189185120	chr4:26317843-26317844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556105513	chr4:26317863-26317864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561619110	chr4:26317868-26317869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201168345	chr4:26317869-26317870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113711773	chr4:26317879-26317880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576139077	chr4:26317890-26317891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201379574	chr4:26317919-26317920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368350038	chr4:26317971-26317972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138511820	chr4:26317972-26317973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141155882	chr4:26317973-26317974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150311464	chr4:26317974-26317975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372696852	chr4:26317986-26317987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541873533	chr4:26317992-26317993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571044201	chr4:26317999-26318000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200897166	chr4:26318025-26318026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561182613	chr4:26318044-26318045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536771568	chr4:26318051-26318052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199893241	chr4:26318055-26318056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144124596	chr4:26318090-26318091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375937605	chr4:26318092-26318093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148250702	chr4:26318104-26318105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111216329	chr4:26318112-26318113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26301600-26320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:26309600-26320600	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:26316600-26320400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:26317000-26317400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:26317400-26319600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:26318000-26319000	Weak transcription	NHLF	lung
7	chr4:26319000-26319200	ZNF genes & repeats	NHLF	lung
8	chr4:26319000-26319800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr4:26319200-26320200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links