Variant report

Variant	nsv1021253
Chromosome Location	chr7:26653375-26669899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26657772..26660623-chr7:26662575..26664833,2	K562	blood:
2	chr7:26668970..26671305-chr7:26674701..26676580,2	K562	blood:
3	chr7:26663687..26665675-chr7:26667700..26669217,2	K562	blood:
4	chr7:26658830..26661463-chr7:26702424..26704355,2	K562	blood:
5	chr7:26647030..26650543-chr7:26652888..26655926,3	K562	blood:
6	chr7:26664430..26667382-chr7:26681275..26683540,2	K562	blood:
7	chr7:26668610..26670470-chr7:26674701..26677216,2	K562	blood:
8	chr7:26663687..26665675-chr7:26667700..26669217,2	K562	blood:
9	chr7:26663354..26664941-chr7:27195455..27198222,2	K562	blood:
10	chr7:26657772..26660623-chr7:26662575..26664833,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SKAP2-5	chr7:26663603-26663859	uc_210_-
2	lnc-C7orf71-3	chr7:26663603-26663859	uc_210_+
3	lnc-SKAP2-1	chr7:26656867-26656923	XLOC_006389

No data

Variant related genes	Relation type
ENSG00000270182	chromatin interactions
ENSG00000122592	chromatin interactions
GOLGA4	miRNA target sites

Extended variants
information (count: 740 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10232625	chr7:26653375-26653376	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10264935	chr7:26653428-26653429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530320454	chr7:26653463-26653464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10235930	chr7:26653478-26653479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531576196	chr7:26653489-26653490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6980320	chr7:26653490-26653491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565000489	chr7:26653518-26653519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527262006	chr7:26653520-26653521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538654686	chr7:26653551-26653552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567274430	chr7:26653565-26653566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529513851	chr7:26653631-26653632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552573949	chr7:26653639-26653640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370842299	chr7:26653658-26653659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17154093	chr7:26653681-26653682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538093319	chr7:26653703-26653704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75013585	chr7:26653720-26653721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79111356	chr7:26653820-26653821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534052445	chr7:26653821-26653822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368051720	chr7:26653888-26653889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78702898	chr7:26653925-26653926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573990706	chr7:26653935-26653936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80353923	chr7:26653978-26653979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77253049	chr7:26654009-26654010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576282371	chr7:26654010-26654011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545257528	chr7:26654029-26654030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79078404	chr7:26654030-26654031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527352868	chr7:26654050-26654051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541128984	chr7:26654071-26654072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7777206	chr7:26654077-26654078	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs11769955	chr7:26654106-26654107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144483751	chr7:26654127-26654128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184416622	chr7:26654133-26654134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141018584	chr7:26654158-26654159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531901064	chr7:26654162-26654163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551533090	chr7:26654174-26654175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571512230	chr7:26654234-26654235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533989872	chr7:26654251-26654252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554284472	chr7:26654278-26654279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567550097	chr7:26654387-26654388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372009300	chr7:26654391-26654392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11763972	chr7:26654392-26654393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547118272	chr7:26654406-26654407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77121985	chr7:26654410-26654411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74668153	chr7:26654411-26654412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572276655	chr7:26654488-26654489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150273216	chr7:26654510-26654511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10486467	chr7:26654514-26654515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188804675	chr7:26654574-26654575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74842549	chr7:26654635-26654636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74367897	chr7:26654646-26654647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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 cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26634400-26656600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:26649400-26658200	Weak transcription	Spleen	Spleen
3	chr7:26650000-26655600	Weak transcription	Lung	lung
4	chr7:26652400-26653400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:26652600-26654400	Enhancers	Right Atrium	heart
6	chr7:26652800-26664400	Weak transcription	Pancreas	Pancrea
7	chr7:26653000-26656400	Weak transcription	Fetal Brain Male	brain
8	chr7:26653200-26658200	Weak transcription	Primary B cells from cord blood	blood
9	chr7:26653400-26655400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:26654000-26654400	Enhancers	Right Ventricle	heart
11	chr7:26654200-26655000	Enhancers	Fetal Heart	heart
12	chr7:26655400-26656200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:26655400-26656400	Enhancers	HMEC	breast
14	chr7:26655600-26656200	ZNF genes & repeats	Lung	lung
15	chr7:26655600-26656400	Enhancers	NHEK	skin
16	chr7:26655600-26658400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:26655800-26656200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:26655800-26656400	Enhancers	Hela-S3	cervix
19	chr7:26655800-26656400	Enhancers	K562	blood
20	chr7:26656000-26656200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:26656200-26656800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:26656200-26657400	Weak transcription	Lung	lung
23	chr7:26656200-26666600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:26656400-26656800	Enhancers	Fetal Brain Male	brain
25	chr7:26656400-26658000	Weak transcription	K562	blood
26	chr7:26656600-26656800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:26656600-26657000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr7:26656800-26658200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:26656800-26667400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:26657000-26659200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:26657400-26657600	Enhancers	Lung	lung
32	chr7:26657400-26658400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:26657400-26658600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:26657600-26660800	Weak transcription	Lung	lung
35	chr7:26657800-26658800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr7:26658000-26658800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:26658000-26659800	Enhancers	K562	blood
38	chr7:26658200-26658400	Enhancers	Spleen	Spleen
39	chr7:26658400-26658600	Bivalent Enhancer	HepG2	liver
40	chr7:26658800-26659000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:26659400-26660000	Bivalent Enhancer	HepG2	liver
42	chr7:26659600-26661000	Enhancers	Placenta	Placenta
43	chr7:26659800-26660000	Flanking Active TSS	K562	blood
44	chr7:26659800-26660400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:26659800-26660600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:26660000-26660200	Enhancers	K562	blood
47	chr7:26660200-26660400	Bivalent/Poised TSS	HepG2	liver
48	chr7:26660200-26660400	Bivalent Enhancer	K562	blood
49	chr7:26660200-26660600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr7:26660200-26660600	Enhancers	H9 Cell Line	embryonic stem cell

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