Variant report

Variant	nsv603254
Chromosome Location	chr6:61896616-61951860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:121483338..121485429-chr6:61912530..61914360,3	MCF-7	breast:
2	chr3:64125661..64126400-chr6:61912686..61913542,2	MCF-7	breast:
3	chr6:58777651..58778267-chr6:61909313..61909813,3	MCF-7	breast:
4	chr6:58777707..58778511-chr6:61909313..61909813,2	MCF-7	breast:
5	chr6:58777671..58778345-chr6:61909292..61909815,4	MCF-7	breast:
6	chr6:58777712..58778738-chr6:61909295..61909815,6	MCF-7	breast:
7	chr6:58776858..58779077-chr6:61908295..61909815,2	MCF-7	breast:

Extended variants
information (count: 3725 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3725 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4947217	chr6:61896616-61896617	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571834670	chr6:61896634-61896635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181973314	chr6:61896639-61896640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185634540	chr6:61896642-61896643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115192292	chr6:61896644-61896645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369721831	chr6:61896669-61896670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554401636	chr6:61896676-61896677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529899340	chr6:61896690-61896691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77003163	chr6:61896694-61896695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542125428	chr6:61896699-61896700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563312020	chr6:61896715-61896716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78720468	chr6:61896716-61896717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534216956	chr6:61896722-61896723	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190508661	chr6:61896744-61896745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113974707	chr6:61896747-61896748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552122141	chr6:61896748-61896749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181881137	chr6:61896798-61896799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528241348	chr6:61896842-61896843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139352629	chr6:61896874-61896875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568070671	chr6:61896876-61896877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535737950	chr6:61896878-61896879	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186026024	chr6:61896894-61896895	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373634560	chr6:61896896-61896897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569474885	chr6:61896900-61896901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540005327	chr6:61896913-61896914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375353762	chr6:61896920-61896921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557978792	chr6:61896931-61896932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572957310	chr6:61896937-61896938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149928871	chr6:61896959-61896960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200390975	chr6:61896966-61896967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555309394	chr6:61896991-61896992	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574001256	chr6:61896997-61896998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76511749	chr6:61897000-61897001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554071651	chr6:61897005-61897006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77543828	chr6:61897023-61897024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531027131	chr6:61897027-61897028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575489908	chr6:61897029-61897030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62412845	chr6:61897067-61897068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201445300	chr6:61897077-61897078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199609844	chr6:61897078-61897079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576404068	chr6:61897090-61897091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4279476	chr6:61897104-61897105	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs111372403	chr6:61897106-61897107	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112238337	chr6:61897107-61897108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113846226	chr6:61897108-61897109	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564471031	chr6:61897112-61897113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113142331	chr6:61897115-61897116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558847309	chr6:61897129-61897130	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528150319	chr6:61897162-61897163	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546732355	chr6:61897163-61897164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:61893800-61905800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr6:61894000-61901800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:61894800-61901800	Weak transcription	K562	blood
4	chr6:61896400-61902400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr6:61897000-61898000	ZNF genes & repeats	HUVEC	blood vessel
6	chr6:61897600-61898000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:61898000-61900600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:61900200-61902800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr6:61900600-61901000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:61900600-61902400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr6:61900600-61905400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr6:61901000-61901800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:61901000-61901800	Weak transcription	Brain Angular Gyrus	brain
14	chr6:61901400-61902400	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr6:61901600-61902400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:61901600-61902600	ZNF genes & repeats	HepG2	liver
17	chr6:61901800-61902000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
18	chr6:61901800-61902000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr6:61901800-61902000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:61901800-61902000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
21	chr6:61901800-61902000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
22	chr6:61901800-61902000	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr6:61901800-61902000	ZNF genes & repeats	Fetal Lung	lung
24	chr6:61901800-61902000	ZNF genes & repeats	A549	lung
25	chr6:61901800-61902000	ZNF genes & repeats	HSMMtube	muscle
26	chr6:61901800-61902000	ZNF genes & repeats	NHDF-Ad	bronchial
27	chr6:61901800-61902200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:61901800-61902200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:61901800-61902200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr6:61901800-61902200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:61901800-61902200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr6:61901800-61902200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:61901800-61902200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:61901800-61902200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr6:61901800-61902200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:61901800-61902200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
37	chr6:61901800-61902200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:61901800-61902200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
39	chr6:61901800-61902200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:61901800-61902200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
41	chr6:61901800-61902200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:61901800-61902200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
43	chr6:61901800-61902200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:61901800-61902200	ZNF genes & repeats	Brain Angular Gyrus	brain
45	chr6:61901800-61902200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
46	chr6:61901800-61902200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:61901800-61902200	ZNF genes & repeats	Brain Substantia Nigra	brain
48	chr6:61901800-61902200	ZNF genes & repeats	Colonic Mucosa	Colon
49	chr6:61901800-61902200	ZNF genes & repeats	Colon Smooth Muscle	Colon
50	chr6:61901800-61902200	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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