Variant report

Variant	esv3402843
Chromosome Location	chr1:194338229-194342727
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	chr1:194315945..194318461-chr1:194337918..194339837,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386638123	chr1:194338232-194338233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375763912	chr1:194338345-194338346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12564996	chr1:194338382-194338383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146554987	chr1:194338386-194338387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567696933	chr1:194338419-194338420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77632105	chr1:194338425-194338426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141202806	chr1:194338438-194338439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557920572	chr1:194338483-194338484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568565478	chr1:194338488-194338489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543507604	chr1:194338490-194338491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144720632	chr1:194338524-194338525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375659418	chr1:194338529-194338530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557899346	chr1:194338562-194338563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369027358	chr1:194338647-194338648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369970324	chr1:194338661-194338662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113273533	chr1:194338693-194338694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199730730	chr1:194338713-194338714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145662175	chr1:194338717-194338718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76225810	chr1:194338720-194338721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149129733	chr1:194338721-194338722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534070841	chr1:194338762-194338763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555742761	chr1:194338764-194338765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117456456	chr1:194338817-194338818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544579467	chr1:194338818-194338819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556603400	chr1:194338890-194338891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201710698	chr1:194338973-194338974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56396628	chr1:194338989-194338990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201868809	chr1:194338990-194338991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199838643	chr1:194338991-194338992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201034027	chr1:194338992-194338993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578026397	chr1:194339013-194339014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545188492	chr1:194339053-194339054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560722698	chr1:194339119-194339120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527909208	chr1:194339181-194339182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544879372	chr1:194340618-194340619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16836805	chr1:194340623-194340624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142778929	chr1:194340725-194340726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549135801	chr1:194340728-194340729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532931247	chr1:194340731-194340732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188729326	chr1:194340763-194340764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550040056	chr1:194340764-194340765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4501822	chr1:194341424-194341425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs79638999	chr1:194341448-194341449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190472264	chr1:194341494-194341495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539413458	chr1:194341503-194341504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4622048	chr1:194341533-194341534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555614292	chr1:194341610-194341611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146567398	chr1:194341628-194341629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537575727	chr1:194341650-194341651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141240796	chr1:194341670-194341671	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194335600-194339200	Enhancers	HMEC	breast
2	chr1:194338200-194338800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:194340600-194340800	Enhancers	Brain Hippocampus Middle	brain
4	chr1:194341400-194342000	Enhancers	Brain Substantia Nigra	brain
5	chr1:194341800-194342200	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:194342000-194342200	Enhancers	Brain Hippocampus Middle	brain

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