Variant report

Variant	nsv960497
Chromosome Location	chr17:45036696-45039225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45036943..45038451-chr17:45062574..45065133,2	K562	blood:
2	chr17:45036287..45039128-chr17:45049347..45051795,2	K562	blood:
3	chr17:45034534..45039079-chr17:45040455..45044434,4	K562	blood:
4	chr17:45025771..45027862-chr17:45033624..45036978,3	K562	blood:
5	chr17:45035542..45037686-chr17:45103345..45105555,2	K562	blood:

Variant related genes	Relation type
ENSG00000264999	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562607646	chr17:45036696-45036697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531643561	chr17:45036759-45036760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181225072	chr17:45036867-45036868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564735300	chr17:45036868-45036869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527525218	chr17:45036905-45036906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139479971	chr17:45036914-45036915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377748064	chr17:45036941-45036942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547472507	chr17:45036955-45036956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184923963	chr17:45036997-45036998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545655067	chr17:45037008-45037009	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530012043	chr17:45037086-45037087	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189894799	chr17:45037115-45037116	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570203994	chr17:45037128-45037129	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148075480	chr17:45037214-45037215	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559025818	chr17:45037216-45037217	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs180753416	chr17:45037237-45037238	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9892764	chr17:45037285-45037286	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553873101	chr17:45037300-45037301	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573796024	chr17:45037316-45037317	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553564798	chr17:45037317-45037318	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4968289	chr17:45037334-45037335	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185315470	chr17:45037418-45037419	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571939213	chr17:45037452-45037453	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78982204	chr17:45037479-45037480	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564871990	chr17:45037516-45037517	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs527463771	chr17:45037521-45037522	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150165712	chr17:45037596-45037597	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74523434	chr17:45037605-45037606	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138781896	chr17:45037642-45037643	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs60207633	chr17:45037667-45037668	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550050584	chr17:45037691-45037692	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374955636	chr17:45037693-45037694	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141731201	chr17:45037722-45037723	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74423889	chr17:45037733-45037734	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190864016	chr17:45037777-45037778	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566397313	chr17:45037785-45037786	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113762664	chr17:45037812-45037813	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs8064568	chr17:45037831-45037832	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs61671555	chr17:45037857-45037858	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs560890254	chr17:45037893-45037894	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201137124	chr17:45037895-45037896	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536343639	chr17:45037896-45037897	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556027139	chr17:45037940-45037941	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs575976895	chr17:45037977-45037978	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538286136	chr17:45037978-45037979	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558404537	chr17:45037991-45037992	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572027210	chr17:45037993-45037994	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73985116	chr17:45038059-45038060	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs142421450	chr17:45038060-45038061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372113968	chr17:45038079-45038080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45012800-45040000	Weak transcription	Hela-S3	cervix
2	chr17:45021600-45039800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr17:45021800-45051800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr17:45022000-45039800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr17:45022800-45044400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr17:45022800-45045000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr17:45023000-45045400	Weak transcription	Ovary	ovary
8	chr17:45023200-45037600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr17:45023400-45037200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:45024800-45037200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr17:45027000-45037200	Weak transcription	Aorta	Aorta
12	chr17:45027000-45039800	Weak transcription	Pancreas	Pancrea
13	chr17:45027200-45039800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:45027400-45054000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr17:45028000-45044400	Weak transcription	Primary T cells from cord blood	blood
16	chr17:45028600-45048800	Weak transcription	Esophagus	oesophagus
17	chr17:45029200-45037400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr17:45030400-45043800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr17:45033600-45037200	Weak transcription	A549	lung
20	chr17:45034400-45045200	Weak transcription	HepG2	liver
21	chr17:45034600-45045600	Weak transcription	Fetal Intestine Small	intestine
22	chr17:45035000-45036800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:45035200-45036800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:45035200-45037400	Enhancers	Brain Anterior Caudate	brain
25	chr17:45035600-45037600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr17:45036000-45037200	Weak transcription	Lung	lung
27	chr17:45036000-45037600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr17:45036400-45043600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr17:45036400-45045800	Weak transcription	Fetal Brain Female	brain
30	chr17:45036400-45052400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr17:45036600-45054400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:45036800-45037000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:45037000-45038000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:45037200-45037400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr17:45037200-45037400	ZNF genes & repeats	Aorta	Aorta
36	chr17:45037200-45037600	ZNF genes & repeats	A549	lung
37	chr17:45037200-45038000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:45037400-45037600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr17:45037400-45055800	Weak transcription	Aorta	Aorta
40	chr17:45037600-45037800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr17:45037600-45037800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
42	chr17:45037600-45037800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
43	chr17:45037800-45052200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr17:45038000-45039800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr17:45038000-45052600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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