Variant report

Variant	nsv1033272
Chromosome Location	chr7:26976426-27020206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26988409..26991338-chr7:26991544..26993555,2	MCF-7	breast:
2	chr7:26978197..26980431-chr7:26981579..26984079,2	MCF-7	breast:
3	chr7:26988409..26991338-chr7:26991544..26993555,2	MCF-7	breast:
4	7:27017279-27025474..7:27176959-27181770	Hela-S3	cervix:
5	chr5:28410842..28411490-chr7:26999000..26999517,2	MCF-7	breast:
6	chr7:26978197..26980431-chr7:26981579..26984079,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105997	chromatin interactions
ENSG00000254369	chromatin interactions

Extended variants
information (count: 1524 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1524 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552580347	chr7:26976427-26976428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542535325	chr7:26976467-26976468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191529520	chr7:26976624-26976625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181214618	chr7:26976630-26976631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540388352	chr7:26976631-26976632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544774666	chr7:26976683-26976684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186357485	chr7:26976712-26976713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs774259	chr7:26976725-26976726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs560181514	chr7:26976774-26976775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376637503	chr7:26976803-26976804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201460874	chr7:26976827-26976828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs774258	chr7:26976830-26976831	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs190576569	chr7:26976945-26976946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs59261995	chr7:26976969-26976970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549309119	chr7:26976991-26976992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4722653	chr7:26977002-26977003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531414412	chr7:26977017-26977018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17436333	chr7:26977040-26977041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117479076	chr7:26977056-26977057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17464454	chr7:26977168-26977169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77819030	chr7:26977180-26977181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs774257	chr7:26977192-26977193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs547151677	chr7:26977253-26977254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182713417	chr7:26977418-26977419	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs535860357	chr7:26977476-26977477	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs576926167	chr7:26977480-26977481	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs556104319	chr7:26977536-26977537	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs546110245	chr7:26977553-26977554	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs575961300	chr7:26977571-26977572	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs376442631	chr7:26977576-26977577	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs552968354	chr7:26977585-26977586	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs531219915	chr7:26977600-26977601	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs207467745	chr7:26977625-26977626	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs199763138	chr7:26977642-26977643	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs186310166	chr7:26977654-26977655	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs145002032	chr7:26977689-26977690	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs7457265	chr7:26977699-26977700	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs190866164	chr7:26977752-26977753	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs560382978	chr7:26977932-26977933	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs574021696	chr7:26977946-26977947	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs542616275	chr7:26977958-26977959	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs376300444	chr7:26978019-26978020	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531465222	chr7:26978060-26978061	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs138087481	chr7:26978069-26978070	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs17436346	chr7:26978133-26978134	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs143208125	chr7:26978184-26978185	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs547509887	chr7:26978185-26978186	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567209412	chr7:26978196-26978197	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs148243125	chr7:26978208-26978209	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs536432095	chr7:26978210-26978211	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26970800-26976600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:26970800-26976600	Weak transcription	NHDF-Ad	bronchial
3	chr7:26976600-26978400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:26976600-26978600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:26976600-26978600	Enhancers	NHDF-Ad	bronchial
6	chr7:26977000-26977400	Enhancers	Fetal Lung	lung
7	chr7:26977000-26977800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:26977000-26978000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:26977200-26977400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:26977200-26977800	Enhancers	A549	lung
11	chr7:26977200-26978000	Enhancers	Fetal Intestine Large	intestine
12	chr7:26977400-26978400	Bivalent Enhancer	Fetal Lung	lung
13	chr7:26977400-26978600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:26977400-26979000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:26977600-26978000	Enhancers	Fetal Kidney	kidney
16	chr7:26977600-26978400	Enhancers	NHEK	skin
17	chr7:26977800-26978200	Flanking Active TSS	A549	lung
18	chr7:26977800-26978400	Enhancers	HMEC	breast
19	chr7:26978000-26978200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:26978200-26978600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:26978200-26978800	Enhancers	A549	lung
22	chr7:26978200-26980200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:26978800-26980800	Weak transcription	A549	lung
24	chr7:26979800-26980800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:26980200-26980600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:26980400-26980600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:26980600-26981800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:26980800-26981000	Enhancers	A549	lung
29	chr7:26980800-26982400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:26981000-26982200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:26981800-26985400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:26982000-26984800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:26982000-26985200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:26982000-26985200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:26982200-26985400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:26982400-26983600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:26982400-26985200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:26982600-26983200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:26983200-26983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:26983400-26984600	Enhancers	Brain Germinal Matrix	brain
41	chr7:26983600-26984600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr7:26983600-26984800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:26984000-26985000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr7:26984200-26984600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:26984400-26985200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr7:26984600-26985400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:26984600-26985600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:26984800-26986200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:26984800-26987600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:26985000-26989200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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