Variant report

Variant	nsv528078
Chromosome Location	chr7:87397345-87418861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:87413764..87415269-chr7:87503904..87505851,2	K562	blood:
2	chr7:87413447..87414027-chr7:87740900..87741405,2	MCF-7	breast:
3	chr7:87391516..87395464-chr7:87395726..87398529,3	MCF-7	breast:
4	chr7:87327238..87329747-chr7:87397840..87399665,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105784	chromatin interactions
ENSG00000006634	chromatin interactions
ENSG00000075303	chromatin interactions

Extended variants
information (count: 645 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs992422	chr7:87397345-87397346	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534630088	chr7:87397426-87397427	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs145538357	chr7:87397427-87397428	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147752513	chr7:87397475-87397476	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs554725818	chr7:87397479-87397480	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs192864180	chr7:87397490-87397491	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs540497214	chr7:87397526-87397527	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs141042549	chr7:87397600-87397601	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs531940898	chr7:87397621-87397622	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs528009052	chr7:87397635-87397636	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs544187271	chr7:87397641-87397642	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs546465553	chr7:87397646-87397647	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs562492304	chr7:87397647-87397648	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs185380342	chr7:87397723-87397724	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs79370812	chr7:87397788-87397789	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs373281804	chr7:87397794-87397795	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375715081	chr7:87397795-87397796	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs78416827	chr7:87397798-87397799	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs527608012	chr7:87397809-87397810	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs151250165	chr7:87397835-87397836	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190215999	chr7:87397854-87397855	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73706919	chr7:87397856-87397857	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550928089	chr7:87397950-87397951	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564772737	chr7:87397951-87397952	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540799695	chr7:87397961-87397962	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569285526	chr7:87398003-87398004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73200332	chr7:87398020-87398021	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554762663	chr7:87398027-87398028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573054093	chr7:87398031-87398032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534230965	chr7:87398035-87398036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558864118	chr7:87398112-87398113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145240469	chr7:87398131-87398132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543895291	chr7:87398134-87398135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs117621870	chr7:87398178-87398179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181927868	chr7:87398185-87398186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76472994	chr7:87398228-87398229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186576644	chr7:87398254-87398255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560394880	chr7:87398304-87398305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532798455	chr7:87398341-87398342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527520133	chr7:87398342-87398343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552874555	chr7:87398404-87398405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529864826	chr7:87398435-87398436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531615471	chr7:87398442-87398443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550713707	chr7:87398462-87398463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10245617	chr7:87398473-87398474	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs77945268	chr7:87398497-87398498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536349388	chr7:87398526-87398527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548235741	chr7:87398527-87398528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566618061	chr7:87398569-87398570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188240395	chr7:87398605-87398606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myxofibrosarcoma	20639860	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87395400-87397400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
2	chr7:87397000-87397600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:87397000-87398000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:87397000-87401000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:87397200-87398000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr7:87397400-87397800	ZNF genes & repeats	Liver	Liver
7	chr7:87397400-87406600	Weak transcription	Brain Angular Gyrus	brain
8	chr7:87397800-87398000	ZNF genes & repeats	Pancreas	Pancrea
9	chr7:87397800-87401400	Weak transcription	Liver	Liver
10	chr7:87398000-87400000	Weak transcription	Pancreas	Pancrea
11	chr7:87398000-87402600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:87400800-87401200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:87400800-87401200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:87400800-87401400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:87401200-87401400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:87406000-87407800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:87409200-87419400	Weak transcription	Left Ventricle	heart

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