Variant report

Variant	nsv575466
Chromosome Location	chr17:46391078-46402212
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46399170..46400082-chr17:46670950..46671830,2	MCF-7	breast:
2	chr17:46393909..46396723-chr17:46401139..46403154,2	K562	blood:
3	chr17:46393390..46395722-chr17:46678237..46681591,3	K562	blood:
4	chr17:46389712..46391460-chr17:46606322..46609188,2	K562	blood:
5	chr17:46393909..46396723-chr17:46401139..46403154,2	K562	blood:
6	chr17:46402150..46403911-chr17:46405862..46407499,2	K562	blood:
7	chr17:46398305..46400507-chr17:46409355..46412275,3	K562	blood:
8	chr17:46399623..46402614-chr17:46666348..46668783,2	K562	blood:
9	chr17:46391077..46394144-chr17:46396348..46399085,4	K562	blood:
10	chr17:46401524..46403183-chr17:46407797..46409461,2	K562	blood:
11	chr17:46387897..46390593-chr17:46393041..46395162,2	K562	blood:
12	chr17:46382958..46385585-chr17:46395013..46396995,2	K562	blood:
13	chr17:46394167..46397926-chr17:46405990..46408451,3	K562	blood:
14	chr17:46391077..46394144-chr17:46396348..46399085,4	K562	blood:
15	chr17:46383237..46384888-chr17:46391109..46393024,2	MCF-7	breast:
16	chr17:46390188..46393069-chr17:46694762..46697606,2	K562	blood:
17	chr17:46399542..46400089-chr17:46662377..46663363,2	K562	blood:
18	chr17:46386965..46388989-chr17:46394978..46396866,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120093	chromatin interactions
ENSG00000108511	chromatin interactions
ENSG00000233101	chromatin interactions
ENSG00000120094	chromatin interactions
ENSG00000120075	chromatin interactions
ENSG00000235300	chromatin interactions

Extended variants
information (count: 321 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12452212	chr17:46391078-46391079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145779849	chr17:46391107-46391108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12452234	chr17:46391198-46391199	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs555474405	chr17:46391227-46391228	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs79686699	chr17:46391245-46391246	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561197303	chr17:46391280-46391281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564016687	chr17:46391413-46391414	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370039929	chr17:46391447-46391448	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529677997	chr17:46391450-46391451	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs34768319	chr17:46391461-46391462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567694133	chr17:46391547-46391548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532069870	chr17:46391573-46391574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538134253	chr17:46391607-46391608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556466509	chr17:46391723-46391724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551869850	chr17:46391857-46391858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565905143	chr17:46391878-46391879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528686591	chr17:46391979-46391980	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35865295	chr17:46391985-46391986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373677884	chr17:46392028-46392029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548455799	chr17:46392055-46392056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181113729	chr17:46392117-46392118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs9904637	chr17:46392118-46392119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557029094	chr17:46392128-46392129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570836731	chr17:46392194-46392195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577786620	chr17:46392241-46392242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7213513	chr17:46392294-46392295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs572247904	chr17:46392336-46392337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs72827825	chr17:46392352-46392353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554894989	chr17:46392459-46392460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370411782	chr17:46392469-46392470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574596671	chr17:46392483-46392484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374875097	chr17:46392530-46392531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188330268	chr17:46392533-46392534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542622067	chr17:46392567-46392568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532154871	chr17:46392583-46392584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545468777	chr17:46392639-46392640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559054232	chr17:46392642-46392643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528650940	chr17:46392714-46392715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34283623	chr17:46392724-46392725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548423445	chr17:46392757-46392758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572851945	chr17:46392758-46392759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs180800377	chr17:46392806-46392807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs76731113	chr17:46392915-46392916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs551274554	chr17:46392952-46392953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570729316	chr17:46392966-46392967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540367294	chr17:46393033-46393034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs36026431	chr17:46393038-46393039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539870711	chr17:46393049-46393050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186402311	chr17:46393093-46393094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190799630	chr17:46393098-46393099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
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	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
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46373200-46415000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:46375800-46396400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr17:46375800-46415800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr17:46377200-46421000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr17:46380200-46395400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr17:46385400-46393400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr17:46386200-46407800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr17:46388600-46391400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:46389000-46392000	Weak transcription	Fetal Intestine Small	intestine
10	chr17:46389200-46393200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:46389200-46393600	Weak transcription	Primary T cells from cord blood	blood
12	chr17:46389400-46392000	Enhancers	A549	lung
13	chr17:46390200-46391200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr17:46390200-46429400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr17:46390600-46391200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr17:46390600-46391400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr17:46390600-46392200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:46390800-46392000	Weak transcription	Fetal Kidney	kidney
19	chr17:46391000-46396000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:46391000-46410400	Weak transcription	GM12878-XiMat	blood
21	chr17:46391000-46420200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr17:46391200-46393800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr17:46391200-46421200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr17:46391400-46391800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:46391400-46405800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr17:46392000-46392200	Enhancers	Fetal Intestine Small	intestine
27	chr17:46392200-46392400	Enhancers	Fetal Kidney	kidney
28	chr17:46392200-46399600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr17:46393200-46394000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:46393400-46395200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr17:46393600-46394800	Strong transcription	Primary T cells from cord blood	blood
32	chr17:46393800-46394600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr17:46394000-46400800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:46394600-46405400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr17:46394800-46396400	Weak transcription	Primary T cells from cord blood	blood
36	chr17:46395200-46402800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr17:46395400-46396200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr17:46396000-46396200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr17:46396200-46406200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:46396200-46421200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr17:46396400-46396800	Strong transcription	Primary T cells from cord blood	blood
42	chr17:46396400-46397400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr17:46396800-46414400	Weak transcription	Primary T cells from cord blood	blood
44	chr17:46397400-46398200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr17:46398200-46398600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr17:46398600-46407600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr17:46399600-46399800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:46399800-46405800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr17:46400800-46405600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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