Variant report

Variant	nsv575467
Chromosome Location	chr17:46396831-46402212
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46399170..46400082-chr17:46670950..46671830,2	MCF-7	breast:
2	chr17:46394167..46397926-chr17:46405990..46408451,3	K562	blood:
3	chr17:46401524..46403183-chr17:46407797..46409461,2	K562	blood:
4	chr17:46398305..46400507-chr17:46409355..46412275,3	K562	blood:
5	chr17:46382958..46385585-chr17:46395013..46396995,2	K562	blood:
6	chr17:46399623..46402614-chr17:46666348..46668783,2	K562	blood:
7	chr17:46399542..46400089-chr17:46662377..46663363,2	K562	blood:
8	chr17:46386965..46388989-chr17:46394978..46396866,2	K562	blood:
9	chr17:46393909..46396723-chr17:46401139..46403154,2	K562	blood:
10	chr17:46391077..46394144-chr17:46396348..46399085,4	K562	blood:
11	chr17:46402150..46403911-chr17:46405862..46407499,2	K562	blood:

No data

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

Extended variants
information (count: 156 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7206951	chr17:46396831-46396832	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533874005	chr17:46396846-46396847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554364812	chr17:46396877-46396878	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574165384	chr17:46396880-46396881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536925467	chr17:46396899-46396900	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556608805	chr17:46396958-46396959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538953350	chr17:46396961-46396962	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373068212	chr17:46397030-46397031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147604863	chr17:46397048-46397049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142162056	chr17:46397087-46397088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112902183	chr17:46397109-46397110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541138628	chr17:46397143-46397144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560265375	chr17:46397161-46397162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529104494	chr17:46397176-46397177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148833487	chr17:46397196-46397197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566118856	chr17:46397214-46397215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531330816	chr17:46397215-46397216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143427738	chr17:46397218-46397219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180941620	chr17:46397262-46397263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374023554	chr17:46397295-46397296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533835627	chr17:46397471-46397472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547538950	chr17:46397475-46397476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567828205	chr17:46397479-46397480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536482935	chr17:46397501-46397502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72827830	chr17:46397502-46397503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576710701	chr17:46397549-46397550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183525326	chr17:46397635-46397636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142316774	chr17:46397638-46397639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558483303	chr17:46397730-46397731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148382336	chr17:46397821-46397822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190447738	chr17:46397856-46397857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556188327	chr17:46397858-46397859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577749498	chr17:46397870-46397871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561259266	chr17:46397907-46397908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573770121	chr17:46397914-46397915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542503256	chr17:46397920-46397921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71377355	chr17:46397929-46397930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs142199699	chr17:46397939-46397940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551712547	chr17:46397940-46397941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564845034	chr17:46398024-46398025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527314613	chr17:46398042-46398043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547502184	chr17:46398093-46398094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35058651	chr17:46398122-46398123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397757723	chr17:46398132-46398133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567293142	chr17:46398143-46398144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200009133	chr17:46398180-46398181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550060758	chr17:46398208-46398209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145805222	chr17:46398251-46398252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138444086	chr17:46398257-46398258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182228017	chr17:46398267-46398268	Weak transcription Strong 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:23 , 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	chr17:46375800-46415800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr17:46377200-46421000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr17:46386200-46407800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr17:46390200-46429400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr17:46391000-46410400	Weak transcription	GM12878-XiMat	blood
7	chr17:46391000-46420200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr17:46391200-46421200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr17:46391400-46405800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:46392200-46399600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:46394000-46400800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:46394600-46405400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr17:46395200-46402800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr17:46396200-46406200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:46396200-46421200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr17:46396400-46397400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr17:46396800-46414400	Weak transcription	Primary T cells from cord blood	blood
18	chr17:46397400-46398200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr17:46398200-46398600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr17:46398600-46407600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr17:46399600-46399800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:46399800-46405800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:46400800-46405600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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