Variant report

Variant	esv3323157
Chromosome Location	chr1:193202929-193204127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4657747	chr1:193202953-193202954	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370230212	chr1:193202969-193202970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552149763	chr1:193203024-193203025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35111331	chr1:193203035-193203036	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577401431	chr1:193203036-193203037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12023013	chr1:193203051-193203052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374711334	chr1:193203060-193203061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558813511	chr1:193203136-193203137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138294714	chr1:193203141-193203142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559800763	chr1:193203280-193203281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71639189	chr1:193203302-193203303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376587010	chr1:193203306-193203307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59767857	chr1:193203307-193203308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57925827	chr1:193203309-193203310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71111461	chr1:193203338-193203339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201837564	chr1:193203350-193203351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368107937	chr1:193203356-193203357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61447046	chr1:193203358-193203359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12145307	chr1:193203361-193203362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59783672	chr1:193203363-193203364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372379345	chr1:193203364-193203365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544378226	chr1:193203368-193203369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60285823	chr1:193203370-193203371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56898554	chr1:193203375-193203376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376405591	chr1:193203376-193203377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377146477	chr1:193203379-193203380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59567622	chr1:193203380-193203381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60893546	chr1:193203387-193203388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57704469	chr1:193203390-193203391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58615337	chr1:193203393-193203394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368276458	chr1:193203396-193203397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56984104	chr1:193203397-193203398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377222949	chr1:193203411-193203412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35586186	chr1:193203412-193203413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376764468	chr1:193203413-193203414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369809239	chr1:193203415-193203416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7554163	chr1:193203421-193203422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369710017	chr1:193203430-193203431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373145597	chr1:193203436-193203437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373740630	chr1:193203441-193203442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200011626	chr1:193203442-193203443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549031038	chr1:193203443-193203444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567608844	chr1:193203444-193203445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7554178	chr1:193203455-193203456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377481228	chr1:193203458-193203459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369223307	chr1:193203461-193203462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373069897	chr1:193203463-193203464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376269309	chr1:193203467-193203468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200922190	chr1:193203491-193203492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560950425	chr1:193203496-193203497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
3	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:193167800-193210400	Weak transcription	Ovary	ovary
5	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
6	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:193176800-193203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:193176800-193209200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:193177000-193206600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
12	chr1:193181000-193207400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:193181800-193210400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
15	chr1:193183400-193211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:193183400-193216000	Weak transcription	NHEK	skin
17	chr1:193184200-193209000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:193184400-193227600	Weak transcription	HMEC	breast
19	chr1:193185000-193204200	Weak transcription	Fetal Kidney	kidney
20	chr1:193185400-193204600	Weak transcription	NHDF-Ad	bronchial
21	chr1:193185400-193211000	Weak transcription	Fetal Brain Female	brain
22	chr1:193185400-193218200	Weak transcription	HepG2	liver
23	chr1:193186200-193216600	Weak transcription	HUVEC	blood vessel
24	chr1:193186600-193210600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:193186600-193216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:193186800-193210400	Weak transcription	Lung	lung
27	chr1:193187000-193205200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:193187000-193205200	Weak transcription	Fetal Intestine Small	intestine
29	chr1:193187000-193205200	Weak transcription	Left Ventricle	heart
30	chr1:193187000-193205400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:193187000-193205400	Weak transcription	Fetal Stomach	stomach
32	chr1:193187000-193206600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:193187000-193207200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:193187000-193210400	Weak transcription	Gastric	stomach
35	chr1:193187000-193210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:193187000-193212200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:193187000-193213000	Weak transcription	Spleen	Spleen
38	chr1:193187000-193216400	Weak transcription	Esophagus	oesophagus
39	chr1:193187000-193216800	Weak transcription	Right Ventricle	heart
40	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:193187800-193205200	Weak transcription	Thymus	Thymus
42	chr1:193187800-193205200	Weak transcription	HSMMtube	muscle
43	chr1:193189000-193204200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:193189000-193205200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:193189000-193205200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:193189000-193205200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:193191400-193217000	Weak transcription	Brain Anterior Caudate	brain
48	chr1:193191400-193221000	Weak transcription	Brain Substantia Nigra	brain
49	chr1:193191600-193205200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:193191600-193216200	Weak transcription	H1 Cell Line	embryonic stem cell

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