Variant report

Variant	nsv523701
Chromosome Location	chr7:150558399-150560322
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	chr7:150550808..150555015-chr7:150558384..150561943,5	K562	blood:
2	chr7:150550808..150553153-chr7:150558456..150560989,3	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2071517	chr7:150558399-150558400	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544041682	chr7:150558402-150558403	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191087138	chr7:150558411-150558412	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529449169	chr7:150558426-150558427	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs45615242	chr7:150558433-150558434	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548806475	chr7:150558434-150558435	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565750754	chr7:150558441-150558442	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528109560	chr7:150558442-150558443	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34090933	chr7:150558444-150558445	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs66516154	chr7:150558445-150558446	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397688534	chr7:150558454-150558455	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551379775	chr7:150558458-150558459	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527258838	chr7:150558463-150558464	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549299833	chr7:150558476-150558477	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146490557	chr7:150558479-150558480	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571591233	chr7:150558494-150558495	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551775311	chr7:150558497-150558498	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571854120	chr7:150558499-150558500	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116988168	chr7:150558509-150558510	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144459404	chr7:150558510-150558511	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4725969	chr7:150558515-150558516	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536421159	chr7:150558516-150558517	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4725374	chr7:150558525-150558526	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534084149	chr7:150558540-150558541	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139433593	chr7:150558546-150558547	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550337298	chr7:150558559-150558560	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541055096	chr7:150558589-150558590	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4725970	chr7:150558611-150558612	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs578226692	chr7:150558641-150558642	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543769899	chr7:150558672-150558673	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4725375	chr7:150558709-150558710	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs372807272	chr7:150558724-150558725	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373028751	chr7:150558725-150558726	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574171534	chr7:150558752-150558753	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553042753	chr7:150558793-150558794	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543172331	chr7:150558823-150558824	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147580359	chr7:150558842-150558843	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34459590	chr7:150558848-150558849	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572508666	chr7:150558862-150558863	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564862966	chr7:150558870-150558871	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140933128	chr7:150558888-150558889	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536627722	chr7:150558889-150558890	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550624929	chr7:150558901-150558902	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34383284	chr7:150558937-150558938	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572939923	chr7:150558938-150558939	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572164509	chr7:150558939-150558940	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78058211	chr7:150558954-150558955	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79050255	chr7:150558955-150558956	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397828782	chr7:150558956-150558957	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs45622032	chr7:150559150-150559151	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150549800-150558400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:150553200-150558800	Strong transcription	Fetal Intestine Small	intestine
3	chr7:150553600-150558800	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr7:150553600-150559400	Strong transcription	Duodenum Mucosa	Duodenum
5	chr7:150553800-150558600	Strong transcription	Fetal Intestine Large	intestine
6	chr7:150555000-150561400	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr7:150555400-150564000	Weak transcription	Liver	Liver
8	chr7:150557400-150558400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:150557400-150559800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:150557600-150558400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:150557800-150558600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:150557800-150559600	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:150557800-150563000	Weak transcription	Right Atrium	heart
14	chr7:150558200-150558400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:150558200-150562800	Weak transcription	Colonic Mucosa	Colon
16	chr7:150558400-150558600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:150558400-150559400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:150558400-150560400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:150558600-150559400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:150558600-150560600	Weak transcription	Fetal Intestine Large	intestine
21	chr7:150558800-150562200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:150558800-150563800	Weak transcription	Fetal Intestine Small	intestine
23	chr7:150559000-150559200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:150559000-150559400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:150559000-150559600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:150559200-150559600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:150559400-150559600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:150559400-150559800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:150559400-150560400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:150559600-150563800	Weak transcription	Ovary	ovary
31	chr7:150559600-150563800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:150559800-150560200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:150560200-150560800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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