Variant report

Variant	esv275415
Chromosome Location	chr7:11228260-11230996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:11228287-11228806	K562	blood:	n/a	n/a
2	EP300	chr7:11230646-11230768	K562	blood:	n/a	n/a
3	JUND	chr7:11228539-11228552	H1-hESC	embryonic stem cell:	n/a	n/a
4	RFX5	chr7:11228522-11228569	H1-hESC	embryonic stem cell:	n/a	n/a
5	STAT3	chr7:11228238-11228315	MCF10A-Er-Src	breast:	n/a	n/a
6	TBP	chr7:11228363-11228548	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr7:11228498-11228819	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF1	chr7:11228490-11228838	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF2	chr7:11228495-11228721	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11230694..11232235-chr7:11241525..11243997,2	MCF-7	breast:
2	chr7:11229782..11232630-chr7:11260914..11263136,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF14-1	chr7:11228166-11228261	ENSG00000230333.2

No data

Variant related genes	Relation type
ENSG00000230333	TF binding region

Extended variants
information (count: 162 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10229042	chr7:11228260-11228261	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548813937	chr7:11228267-11228268	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs183822859	chr7:11228320-11228321	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559481867	chr7:11228325-11228326	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs73067521	chr7:11228344-11228345	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540743875	chr7:11228366-11228367	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187968761	chr7:11228410-11228411	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs148873932	chr7:11228411-11228412	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs532777692	chr7:11228462-11228463	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs550091031	chr7:11228472-11228473	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs371508888	chr7:11228501-11228502	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs142567433	chr7:11228518-11228519	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs529655624	chr7:11228604-11228605	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs150945120	chr7:11228615-11228616	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535149952	chr7:11228628-11228629	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549837504	chr7:11228659-11228660	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs112538979	chr7:11228674-11228675	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs571654565	chr7:11228727-11228728	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs6975945	chr7:11228742-11228743	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6976093	chr7:11228770-11228771	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs386710283	chr7:11228777-11228778	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs6976340	chr7:11228779-11228780	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191717351	chr7:11228837-11228838	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs200878124	chr7:11228850-11228851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10561753	chr7:11228851-11228852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6976506	chr7:11228910-11228911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs35749243	chr7:11228915-11228916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541158024	chr7:11228921-11228922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6976511	chr7:11228922-11228923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577615158	chr7:11228941-11228942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574665291	chr7:11228942-11228943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116266855	chr7:11228945-11228946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140729971	chr7:11228952-11228953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554242303	chr7:11228971-11228972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571412534	chr7:11228991-11228992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10650408	chr7:11229024-11229025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386710284	chr7:11229025-11229026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200857888	chr7:11229026-11229027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549274723	chr7:11229064-11229065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559621996	chr7:11229067-11229068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528264442	chr7:11229073-11229074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577407284	chr7:11229083-11229084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551897690	chr7:11229088-11229089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571652146	chr7:11229111-11229112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574560814	chr7:11229114-11229115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369463855	chr7:11229137-11229138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35813492	chr7:11229139-11229140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10561754	chr7:11229140-11229141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552307827	chr7:11229141-11229142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183507489	chr7:11229159-11229160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11222600-11232000	Weak transcription	Liver	Liver
2	chr7:11224600-11232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:11228000-11228400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:11228200-11228400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr7:11228200-11228400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr7:11228200-11228400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:11228200-11228400	ZNF genes & repeats	HepG2	liver
8	chr7:11228200-11228600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr7:11228200-11228600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr7:11228200-11228600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:11228400-11228600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr7:11228400-11228600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr7:11228400-11228600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:11228400-11228800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr7:11228400-11228800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:11228400-11231200	Weak transcription	HepG2	liver
17	chr7:11228600-11228800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
18	chr7:11228600-11228800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:11228600-11228800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:11228600-11228800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr7:11228600-11231200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:11228800-11230600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:11228800-11230600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:11228800-11231000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:11230400-11231000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:11230400-11232400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr7:11230600-11231200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr7:11230600-11231800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:11230600-11232200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr7:11230600-11232400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr7:11230600-11232600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:11230800-11231000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:11230800-11231000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:11230800-11231000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
35	chr7:11230800-11231000	Enhancers	Brain Cingulate Gyrus	brain
36	chr7:11230800-11231000	Enhancers	Brain Germinal Matrix	brain
37	chr7:11230800-11231000	Enhancers	Fetal Lung	lung
38	chr7:11230800-11231200	Enhancers	Ovary	ovary
39	chr7:11230800-11231400	Enhancers	Fetal Heart	heart
40	chr7:11230800-11232000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:11230800-11232200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
42	chr7:11230800-11232200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:11230800-11233600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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