Variant report

Variant	nsv527573
Chromosome Location	chr7:7570959-7572215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7565685..7567431-chr7:7571979..7573747,2	MCF-7	breast:
2	chr7:7571296..7573446-chr7:7605747..7607706,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPA3-3	chr7:7572070-7572765	l_3360_chr7:7558465-7570482_kidney

Variant related genes	Relation type
ENSG00000164654	chromatin interactions
ENSG00000272894	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17168516	chr7:7570959-7570960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367941598	chr7:7570997-7570998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370260833	chr7:7571036-7571037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373784511	chr7:7571038-7571039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185856586	chr7:7571061-7571062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141928495	chr7:7571062-7571063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367544452	chr7:7571072-7571073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372248641	chr7:7571086-7571087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7804532	chr7:7571094-7571095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs368502041	chr7:7571103-7571104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201967894	chr7:7571115-7571116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190228452	chr7:7571140-7571141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375359721	chr7:7571175-7571176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200426969	chr7:7571197-7571198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564431663	chr7:7571209-7571210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551237304	chr7:7571213-7571214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371960243	chr7:7571214-7571215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369230449	chr7:7571216-7571217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376583525	chr7:7571233-7571234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576001045	chr7:7571236-7571237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75456776	chr7:7571257-7571258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199838112	chr7:7571271-7571272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561665590	chr7:7571274-7571275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374596021	chr7:7571278-7571279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528948628	chr7:7571346-7571347	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs377460504	chr7:7571350-7571351	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs150768519	chr7:7571355-7571356	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs373605658	chr7:7571388-7571389	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533272857	chr7:7571406-7571407	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs181830476	chr7:7571413-7571414	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs17168526	chr7:7571420-7571421	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
32	rs548993669	chr7:7571429-7571430	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs373925564	chr7:7571449-7571450	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs187297101	chr7:7571474-7571475	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201148305	chr7:7571498-7571499	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs370084753	chr7:7571504-7571505	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535896458	chr7:7571512-7571513	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs139799627	chr7:7571540-7571541	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs566921371	chr7:7571647-7571648	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs534455204	chr7:7571668-7571669	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs565975190	chr7:7571678-7571679	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs77687431	chr7:7571806-7571807	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs76909170	chr7:7571885-7571886	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs7810456	chr7:7571890-7571891	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs543065786	chr7:7571902-7571903	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs555311964	chr7:7571915-7571916	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs145284083	chr7:7571922-7571923	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs2108065	chr7:7571929-7571930	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548049283	chr7:7571936-7571937	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs566510516	chr7:7571952-7571953	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7528600-7575400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:7564200-7575200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:7569200-7571000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:7569400-7575400	Weak transcription	Fetal Kidney	kidney
5	chr7:7570200-7579800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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