Variant report

Variant	esv3387035
Chromosome Location	chr1:195869729-195872827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:195868249..195869806-chr1:196117660..196119687,2	K562	blood:
2	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
3	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557072626	chr1:195869740-195869741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374037262	chr1:195869758-195869759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536873504	chr1:195869767-195869768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3008574	chr1:195869775-195869776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577030179	chr1:195869777-195869778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144754667	chr1:195869786-195869787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16839082	chr1:195869839-195869840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs377312118	chr1:195869929-195869930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188310955	chr1:195869938-195869939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113417494	chr1:195869971-195869972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76520042	chr1:195870060-195870061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531113848	chr1:195870077-195870078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142847782	chr1:195870086-195870087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536005605	chr1:195870087-195870088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575289855	chr1:195870094-195870095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151042906	chr1:195870098-195870099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528736432	chr1:195870100-195870101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180673380	chr1:195870101-195870102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141184979	chr1:195870170-195870171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113122306	chr1:195870235-195870236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535502348	chr1:195870266-195870267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12032098	chr1:195870305-195870306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569043564	chr1:195870322-195870323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373905635	chr1:195870332-195870333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373730306	chr1:195870333-195870334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368780689	chr1:195870335-195870336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186501139	chr1:195870337-195870338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534876331	chr1:195870397-195870398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553041766	chr1:195870429-195870430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538908154	chr1:195870446-195870447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144163992	chr1:195870496-195870497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79069697	chr1:195870506-195870507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146515492	chr1:195870519-195870520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376622182	chr1:195870534-195870535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545917799	chr1:195870570-195870571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16839087	chr1:195870575-195870576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191838241	chr1:195870576-195870577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182328216	chr1:195870593-195870594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541265197	chr1:195870611-195870612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562272081	chr1:195870646-195870647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560374579	chr1:195870656-195870657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529233891	chr1:195870691-195870692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550526361	chr1:195870699-195870700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527745384	chr1:195870721-195870722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568929165	chr1:195870739-195870740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186899320	chr1:195870755-195870756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3010145	chr1:195870781-195870782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570614343	chr1:195870790-195870791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12039425	chr1:195870841-195870842	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs3010146	chr1:195870879-195870880	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195867000-195871000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:195868200-195870200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:195868600-195869800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:195868800-195870800	Enhancers	K562	blood
5	chr1:195869800-195870400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:195870400-195871000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:195870800-195871600	Weak transcription	K562	blood
8	chr1:195871000-195872000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:195871000-195876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:195871600-195871800	Active TSS	K562	blood
11	chr1:195871800-195872600	Flanking Active TSS	K562	blood
12	chr1:195872000-195872400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:195872400-195876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:195872600-195873200	Enhancers	K562	blood

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