Variant report

Variant	esv3402522
Chromosome Location	chr1:193130379-193132027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193130707..193133682-chr1:193139194..193140778,2	K562	blood:
2	chr1:193131251..193133422-chr1:193136477..193138885,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563658219	chr1:193130407-193130408	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573869146	chr1:193130423-193130424	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542941946	chr1:193130466-193130467	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559602788	chr1:193130518-193130519	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528526601	chr1:193130534-193130535	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545069119	chr1:193130540-193130541	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530967553	chr1:193130550-193130551	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546315268	chr1:193130606-193130607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35956090	chr1:193130608-193130609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143196337	chr1:193130676-193130677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565234559	chr1:193130729-193130730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373926225	chr1:193130758-193130759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs5779664	chr1:193130761-193130762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375094938	chr1:193130762-193130763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5779665	chr1:193130764-193130765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12738479	chr1:193130776-193130777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28372652	chr1:193130782-193130783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10801185	chr1:193130783-193130784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28458317	chr1:193130789-193130790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182925076	chr1:193130823-193130824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71522459	chr1:193130875-193130876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373375330	chr1:193130888-193130889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187236499	chr1:193130901-193130902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376945131	chr1:193130914-193130915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71522460	chr1:193130927-193130928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370625852	chr1:193130939-193130940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368466570	chr1:193130953-193130954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373356602	chr1:193130965-193130966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183785860	chr1:193130979-193130980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189317103	chr1:193131161-193131162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376365014	chr1:193131173-193131174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193088070	chr1:193131187-193131188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370793555	chr1:193131199-193131200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111214189	chr1:193131213-193131214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374202697	chr1:193131214-193131215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368718639	chr1:193131225-193131226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375532748	chr1:193131239-193131240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189907713	chr1:193131263-193131264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551058136	chr1:193131277-193131278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567498905	chr1:193131281-193131282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370974823	chr1:193131282-193131283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529902402	chr1:193131312-193131313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546958505	chr1:193131316-193131317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373844118	chr1:193131317-193131318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs66602488	chr1:193131341-193131342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371263558	chr1:193131343-193131344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566653404	chr1:193131356-193131357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71111455	chr1:193131363-193131364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4017433	chr1:193131368-193131369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538880457	chr1:193131382-193131383	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:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193092600-193141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
3	chr1:193101000-193140000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:193104200-193135000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:193106000-193140800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:193110000-193139600	Weak transcription	Esophagus	oesophagus
7	chr1:193110000-193149400	Weak transcription	Right Ventricle	heart
8	chr1:193110000-193155200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:193111600-193137600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:193115800-193142000	Weak transcription	Spleen	Spleen
11	chr1:193116000-193132200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:193116600-193149400	Weak transcription	Brain Germinal Matrix	brain
13	chr1:193117200-193131400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:193118000-193147800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:193119600-193137600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:193120200-193141600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:193120400-193150400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:193120600-193135800	Weak transcription	Psoas Muscle	Psoas
19	chr1:193120600-193142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:193121000-193143800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:193121000-193155200	Weak transcription	Pancreas	Pancrea
22	chr1:193121200-193132200	Weak transcription	Fetal Stomach	stomach
23	chr1:193121600-193137400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:193122400-193142400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:193123200-193140000	Weak transcription	Ovary	ovary
26	chr1:193123200-193147400	Weak transcription	Fetal Brain Female	brain
27	chr1:193123200-193151600	Weak transcription	Fetal Kidney	kidney
28	chr1:193123200-193153600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:193123400-193131600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:193123400-193131600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:193123400-193133800	Weak transcription	HMEC	breast
32	chr1:193123400-193139000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:193123400-193140000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:193123400-193140000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:193123400-193140000	Weak transcription	HSMMtube	muscle
36	chr1:193123400-193142000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:193123400-193143000	Weak transcription	Lung	lung
38	chr1:193123400-193147600	Weak transcription	Fetal Brain Male	brain
39	chr1:193123400-193155200	Weak transcription	Thymus	Thymus
40	chr1:193123600-193140000	Weak transcription	Fetal Lung	lung
41	chr1:193123600-193149600	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:193123800-193141600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:193123800-193141800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:193123800-193147800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:193123800-193150400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:193123800-193153200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:193124000-193152000	Weak transcription	Liver	Liver
48	chr1:193124000-193153600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:193124000-193154200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:193124200-193132400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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