Variant report

Variant	nsv522250
Chromosome Location	chr7:50442726-50454736
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:0)
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	chr7:50439950..50441982-chr7:50444610..50447858,3	MCF-7	breast:
2	chr7:50439242..50443195-chr7:50443204..50445226,4	K562	blood:
3	chr7:50439242..50443195-chr7:50443204..50445226,4	K562	blood:
4	chr7:50444036..50446492-chr7:50449187..50451850,2	K562	blood:
5	chr7:50454599..50456922-chr7:50460063..50461739,2	K562	blood:
6	chr7:50449168..50454095-chr7:50455547..50458876,4	K562	blood:
7	chr7:50454599..50457832-chr7:50460063..50462118,3	K562	blood:
8	chr7:50439299..50442236-chr7:50446777..50448652,2	K562	blood:
9	chr7:50444036..50446492-chr7:50449187..50451850,2	K562	blood:
10	chr7:50345029..50346765-chr7:50447263..50449300,2	K562	blood:

No data

Extended variants
information (count: 414 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7809377	chr7:50442726-50442727	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545385423	chr7:50442752-50442753	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565538771	chr7:50442770-50442771	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527901026	chr7:50442804-50442805	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541205427	chr7:50442821-50442822	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143413463	chr7:50442850-50442851	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530131372	chr7:50442878-50442879	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549816956	chr7:50442882-50442883	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191507281	chr7:50442916-50442917	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55826129	chr7:50442917-50442918	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556774538	chr7:50442925-50442926	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541998229	chr7:50442931-50442932	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112338460	chr7:50442964-50442965	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551410806	chr7:50442976-50442977	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571498715	chr7:50442981-50442982	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113615265	chr7:50443047-50443048	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554001821	chr7:50443048-50443049	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567412541	chr7:50443062-50443063	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536352409	chr7:50443108-50443109	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377607679	chr7:50443140-50443141	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80271829	chr7:50443141-50443142	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539376589	chr7:50443169-50443170	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544960909	chr7:50443172-50443173	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372433515	chr7:50443207-50443208	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572388995	chr7:50443295-50443296	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148373129	chr7:50443313-50443314	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561149638	chr7:50443372-50443373	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75068378	chr7:50443413-50443414	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs60591650	chr7:50443414-50443415	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561717925	chr7:50443416-50443417	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117849269	chr7:50443431-50443432	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574652091	chr7:50443476-50443477	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75612853	chr7:50443614-50443615	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563775655	chr7:50443693-50443694	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532430954	chr7:50443701-50443702	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143243161	chr7:50443720-50443721	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113829971	chr7:50443749-50443750	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527583513	chr7:50443774-50443775	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138406083	chr7:50443901-50443902	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74828745	chr7:50443928-50443929	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536414696	chr7:50443974-50443975	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187768390	chr7:50443980-50443981	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143892504	chr7:50443993-50443994	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538290240	chr7:50443998-50443999	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558514784	chr7:50444014-50444015	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113125091	chr7:50444025-50444026	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534994699	chr7:50444035-50444036	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74412507	chr7:50444040-50444041	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574715402	chr7:50444052-50444053	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372377965	chr7:50444067-50444068	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Multiple myeloma	16616336	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50420000-50461800	Genic enhancers	Primary T cells fromperipheralblood	blood
2	chr7:50420600-50453400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
3	chr7:50428600-50447800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:50430600-50459800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr7:50431200-50460600	Strong transcription	Dnd41	blood
6	chr7:50431400-50472600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:50436800-50442800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr7:50436800-50448200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:50437000-50443000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:50437000-50453600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr7:50437200-50444000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:50437200-50446000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:50437200-50460200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr7:50437400-50444400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:50437400-50445600	Strong transcription	K562	blood
16	chr7:50437400-50450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:50437600-50443000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr7:50437600-50444000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:50438000-50442800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:50438000-50449800	Genic enhancers	Primary T cells from cord blood	blood
21	chr7:50438600-50443000	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr7:50438600-50444600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:50438600-50453000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:50439400-50446800	Weak transcription	Lung	lung
25	chr7:50439400-50460600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:50439600-50446800	Weak transcription	Esophagus	oesophagus
27	chr7:50440000-50443000	Strong transcription	GM12878-XiMat	blood
28	chr7:50440000-50450400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:50440200-50443800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:50440200-50446800	Weak transcription	Gastric	stomach
31	chr7:50440800-50461400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:50441200-50459800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:50441200-50460200	Strong transcription	Thymus	Thymus
34	chr7:50441200-50460400	Strong transcription	Primary hematopoietic stem cells	blood
35	chr7:50441200-50460400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:50441600-50446400	Strong transcription	Primary B cells from cord blood	blood
37	chr7:50441800-50459200	Strong transcription	Fetal Thymus	thymus
38	chr7:50442200-50460200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:50442400-50443800	Weak transcription	Spleen	Spleen
40	chr7:50442400-50446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:50442600-50443200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr7:50442600-50443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:50442800-50444000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:50442800-50446600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:50443000-50443800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:50443000-50445600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:50443000-50446000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr7:50443000-50446600	Weak transcription	GM12878-XiMat	blood
49	chr7:50443200-50443800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:50443400-50445800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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