Variant report

Variant	esv2761139
Chromosome Location	chr7:11256763-11266778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:11258948-11259424	K562	blood:	n/a	n/a
2	CEBPB	chr7:11261510-11261710	HepG2	liver:	n/a	chr7:11261549-11261560
3	EBF1	chr7:11257933-11257971	GM12878	blood:	n/a	n/a
4	EP300	chr7:11256658-11256999	SK-N-SH_RA	brain:	n/a	chr7:11256757-11256767
5	GATA2	chr7:11257584-11257973	HUVEC	blood vessel:	n/a	chr7:11257959-11257969
6	MAX	chr7:11261674-11262272	NB4	blood:	n/a	chr7:11262086-11262096
7	MAZ	chr7:11263143-11263227	HepG2	liver:	n/a	n/a
8	MAZ	chr7:11262396-11262430	GM12878	blood:	n/a	n/a
9	MYC	chr7:11261653-11261813	NB4	blood:	n/a	n/a
10	NFYB	chr7:11259283-11259706	GM12878	blood:	n/a	chr7:11259488-11259503
11	NFYB	chr7:11259451-11259477	Hela-S3	cervix:	n/a	n/a
12	NFYB	chr7:11259273-11259706	K562	blood:	n/a	chr7:11259488-11259503
13	POLR2A	chr7:11257514-11257598	ProgFib	skin:	n/a	n/a
14	POLR2A	chr7:11260617-11260708	A549	lung:	n/a	n/a
15	POLR2A	chr7:11257512-11258095	SK-N-MC	brain:	n/a	n/a
16	SPI1	chr7:11261531-11262063	HL-60	blood:	n/a	n/a
17	SPI1	chr7:11259031-11259158	K562	blood:	n/a	n/a
18	STAT3	chr7:11266261-11266367	MCF10A-Er-Src	breast:	n/a	n/a
19	USF1	chr7:11259224-11259618	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF1	chr7:11259275-11259593	K562	blood:	n/a	n/a
21	USF1	chr7:11259348-11259569	K562	blood:	n/a	n/a
22	USF2	chr7:11262585-11262602	HepG2	liver:	n/a	n/a
23	WRNIP1	chr7:11263415-11263499	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:11229782..11232630-chr7:11260914..11263136,3	K562	blood:
2	chr7:11249621..11251321-chr7:11263470..11265207,2	K562	blood:
3	chr7:11256893..11259555-chr7:11260673..11263509,2	K562	blood:
4	chr7:11010971..11012619-chr7:11259384..11261240,2	MCF-7	breast:
5	chr7:11260927..11263844-chr7:11265441..11267133,2	MCF-7	breast:
6	chr7:11256893..11259555-chr7:11260673..11263509,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF14-1	chr7:11266645-11266691	ENSG00000230333.2
2	lnc-PHF14-1	chr7:11266645-11266691	ENSG00000230333.1
3	lnc-PHF14-1	chr7:11266645-11266691	ENSG00000230333.2
4	lnc-PHF14-9	chr7:11259265-11259377	ucscGeneNc_uc003ssb_2
5	lnc-PHF14-1	chr7:11266645-11266691	ENSG00000230333.1

No data

Variant related genes	Relation type
ENSG00000230333	TF binding region
ENSG00000230333	chromatin interactions

Extended variants
information (count: 382 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2525751	chr7:11256763-11256764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114279316	chr7:11256768-11256769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559312576	chr7:11256791-11256792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112709861	chr7:11256802-11256803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538250816	chr7:11256834-11256835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534668235	chr7:11256836-11256837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6965602	chr7:11256883-11256884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140531744	chr7:11256906-11256907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540406543	chr7:11256956-11256957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553112265	chr7:11256972-11256973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572723729	chr7:11256990-11256991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183509072	chr7:11256991-11256992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186730919	chr7:11257050-11257051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2525753	chr7:11257064-11257065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543805419	chr7:11257075-11257076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560765743	chr7:11257098-11257099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73679523	chr7:11257122-11257123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12535860	chr7:11257211-11257212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114692251	chr7:11257237-11257238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556817384	chr7:11257252-11257253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191397403	chr7:11257259-11257260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552862499	chr7:11257290-11257291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572834634	chr7:11257301-11257302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569573435	chr7:11257331-11257332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184651410	chr7:11257335-11257336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190819748	chr7:11257348-11257349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568390494	chr7:11257355-11257356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181473733	chr7:11257417-11257418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553990969	chr7:11257533-11257534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572662821	chr7:11257559-11257560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538451521	chr7:11257659-11257660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558379944	chr7:11257665-11257666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185320604	chr7:11257694-11257695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544211408	chr7:11257698-11257699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559331460	chr7:11257723-11257724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560914530	chr7:11257728-11257729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189432222	chr7:11257754-11257755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540287393	chr7:11257784-11257785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6952794	chr7:11257801-11257802	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs6970610	chr7:11257837-11257838	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575637296	chr7:11257930-11257931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142561687	chr7:11257953-11257954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563115537	chr7:11257993-11257994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146436364	chr7:11258021-11258022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181339736	chr7:11258042-11258043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376704670	chr7:11258062-11258063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185800076	chr7:11258115-11258116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17609723	chr7:11258225-11258226	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs79132142	chr7:11258241-11258242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570606994	chr7:11258251-11258252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11251200-11257000	Enhancers	Liver	Liver
2	chr7:11256200-11260800	Weak transcription	Gastric	stomach
3	chr7:11256400-11257400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:11256800-11257000	Enhancers	Fetal Kidney	kidney
5	chr7:11257000-11263600	Weak transcription	Liver	Liver
6	chr7:11257400-11258800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:11258000-11258400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr7:11258400-11258600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:11258600-11259400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr7:11258800-11259000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
11	chr7:11259400-11260200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:11259600-11260000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:11260200-11261000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr7:11260200-11262600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:11260400-11262200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr7:11260800-11261000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:11260800-11261600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:11261000-11261800	Weak transcription	Gastric	stomach
19	chr7:11261000-11262400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr7:11261600-11261800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:11261600-11262800	Enhancers	Ovary	ovary
22	chr7:11262200-11262400	Enhancers	Gastric	stomach
23	chr7:11262200-11262400	Enhancers	Left Ventricle	heart
24	chr7:11262200-11262800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:11262400-11262600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr7:11262400-11267200	Weak transcription	Left Ventricle	heart
27	chr7:11262800-11263200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:11262800-11266800	Weak transcription	Ovary	ovary
29	chr7:11263200-11263800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:11263400-11265000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:11263600-11264600	Enhancers	Liver	Liver
32	chr7:11263800-11274000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:11264200-11265200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:11264600-11267000	Weak transcription	Liver	Liver
35	chr7:11264800-11268000	Weak transcription	Adipose Nuclei	Adipose
36	chr7:11265000-11265200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:11265200-11268000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:11265400-11267400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:11266600-11266800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links