Variant report

Variant	esv3451387
Chromosome Location	chr1:193335344-193362618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193336288..193338417-chr17:39683121..39684759,2	MCF-7	breast:
2	chr1:193358877..193360708-chr1:193363021..193364568,2	K562	blood:
3	chr1:193358571..193360377-chr1:193363021..193364910,2	K562	blood:

Variant related genes	Relation type
ENSG00000171345	chromatin interactions

Extended variants
information (count: 771 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:771 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541741712	chr1:193335351-193335352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181385838	chr1:193335433-193335434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578186962	chr1:193335455-193335456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543655428	chr1:193335458-193335459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532064226	chr1:193335483-193335484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373958769	chr1:193335505-193335506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529381883	chr1:193335513-193335514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543139013	chr1:193335617-193335618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559301867	chr1:193335685-193335686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142857962	chr1:193335690-193335691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185176562	chr1:193335695-193335696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571220142	chr1:193335699-193335700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541117309	chr1:193335700-193335701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530572354	chr1:193335708-193335709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550524594	chr1:193335713-193335714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567321781	chr1:193335756-193335757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535951430	chr1:193335791-193335792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553077860	chr1:193335795-193335796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376703438	chr1:193335796-193335797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189940081	chr1:193335800-193335801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538647184	chr1:193335842-193335843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183224710	chr1:193335848-193335849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567511624	chr1:193335858-193335859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536237160	chr1:193335868-193335869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144277756	chr1:193335883-193335884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12752198	chr1:193335895-193335896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192110032	chr1:193335904-193335905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71642916	chr1:193335921-193335922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71642917	chr1:193335925-193335926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542754829	chr1:193335946-193335947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71642918	chr1:193335951-193335952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367659753	chr1:193335952-193335953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71642919	chr1:193335963-193335964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183677434	chr1:193335972-193335973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556489027	chr1:193336041-193336042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545008290	chr1:193336060-193336061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569996217	chr1:193336169-193336170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564810717	chr1:193336235-193336236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530730605	chr1:193336272-193336273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1361404	chr1:193336296-193336297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs140689127	chr1:193336331-193336332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529938655	chr1:193336374-193336375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs1361405	chr1:193336396-193336397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs550154688	chr1:193336451-193336452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571615728	chr1:193336453-193336454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566574725	chr1:193336543-193336544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538608119	chr1:193336585-193336586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375859296	chr1:193336617-193336618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558599387	chr1:193336694-193336695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144662724	chr1:193336745-193336746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
small cell lung cancer	20016488	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
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	21510904	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193326400-193353000	Weak transcription	Fetal Lung	lung
2	chr1:193332000-193337000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:193332800-193338600	Weak transcription	Aorta	Aorta
4	chr1:193336000-193336200	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:193336000-193336200	Enhancers	Stomach Mucosa	stomach
6	chr1:193336000-193336400	Enhancers	Small Intestine	intestine
7	chr1:193336200-193337000	Weak transcription	Stomach Mucosa	stomach
8	chr1:193336200-193337200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:193336400-193336600	Weak transcription	Small Intestine	intestine
10	chr1:193336600-193337000	Enhancers	Small Intestine	intestine
11	chr1:193336800-193337000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:193336800-193337200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:193336800-193337200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:193336800-193337200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:193336800-193337400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:193337000-193337200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:193337000-193337200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:193337000-193337600	Active TSS	Brain Angular Gyrus	brain
19	chr1:193337000-193337800	Weak transcription	Small Intestine	intestine
20	chr1:193337000-193338000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:193337000-193338000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr1:193337000-193338000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:193337000-193338200	Enhancers	Stomach Mucosa	stomach
24	chr1:193337200-193337400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr1:193337200-193337400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:193337200-193337400	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr1:193337200-193337600	Enhancers	Primary B cells from peripheral blood	blood
28	chr1:193337200-193337600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:193337200-193337800	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr1:193337200-193337800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:193337200-193337800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:193337200-193337800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr1:193337200-193337800	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:193337200-193338000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr1:193337200-193338000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:193337400-193337600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr1:193337400-193337600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:193337400-193337600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:193337400-193337600	Enhancers	Ovary	ovary
40	chr1:193337400-193337600	Bivalent/Poised TSS	GM12878-XiMat	blood
41	chr1:193337400-193337800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr1:193337400-193337800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:193337400-193337800	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr1:193337400-193337800	Active TSS	Brain Anterior Caudate	brain
45	chr1:193337400-193337800	Active TSS	Duodenum Mucosa	Duodenum
46	chr1:193337400-193337800	Enhancers	NH-A	brain
47	chr1:193337400-193338000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr1:193337400-193338200	Enhancers	HUVEC	blood vessel
49	chr1:193337600-193337800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr1:193337600-193337800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood

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