Variant report

Variant	esv3396415
Chromosome Location	chr1:185973529-185975477
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	chr1:185971994..185974471-chr1:185976097..185978472,2	K562	blood:
2	chr1:185974978..185977971-chr1:185978048..185981711,3	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572599758	chr1:185973530-185973531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546469275	chr1:185973635-185973636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184008407	chr1:185973642-185973643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576006165	chr1:185973649-185973650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543383166	chr1:185973679-185973680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188646440	chr1:185973765-185973766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529305321	chr1:185973785-185973786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547575015	chr1:185973796-185973797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34273930	chr1:185973811-185973812	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559493940	chr1:185973832-185973833	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533018029	chr1:185973844-185973845	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551633958	chr1:185973866-185973867	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562974462	chr1:185973936-185973937	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192812177	chr1:185973939-185973940	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548958255	chr1:185973952-185973953	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184240798	chr1:185973960-185973961	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116029494	chr1:185974026-185974027	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148711584	chr1:185974032-185974033	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142842995	chr1:185974150-185974151	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56077131	chr1:185974206-185974207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572583496	chr1:185974217-185974218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56815497	chr1:185974234-185974235	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535522602	chr1:185974235-185974236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111372814	chr1:185974244-185974245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558352115	chr1:185974245-185974246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557044067	chr1:185974248-185974249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543712745	chr1:185974280-185974281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190782171	chr1:185974283-185974284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573742913	chr1:185974293-185974294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541503309	chr1:185974319-185974320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559621056	chr1:185974344-185974345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28595149	chr1:185974376-185974377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58843740	chr1:185974389-185974390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184403028	chr1:185974403-185974404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188745067	chr1:185974415-185974416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530779601	chr1:185974417-185974418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181224918	chr1:185974421-185974422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549661381	chr1:185974427-185974428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60252678	chr1:185974437-185974438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185625739	chr1:185974446-185974447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536843533	chr1:185974449-185974450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528110608	chr1:185974467-185974468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546651535	chr1:185974476-185974477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571225114	chr1:185974481-185974482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57065048	chr1:185974488-185974489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191166110	chr1:185974494-185974495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55775980	chr1:185974520-185974521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58297844	chr1:185974526-185974527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58898704	chr1:185974544-185974545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58201330	chr1:185974555-185974556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Urothelial carcinoma	21177765	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185934400-185974000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:185936600-185999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:185938800-185990200	Weak transcription	Liver	Liver
4	chr1:185938800-185994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:185939000-185986000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
7	chr1:185959000-185979200	Weak transcription	Esophagus	oesophagus
8	chr1:185960200-185999000	Weak transcription	Fetal Lung	lung
9	chr1:185960600-185977600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:185964200-185977600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:185964200-185979000	Weak transcription	Left Ventricle	heart
12	chr1:185964200-186014800	Weak transcription	Lung	lung
13	chr1:185964600-185979000	Weak transcription	Aorta	Aorta
14	chr1:185965800-185983200	Weak transcription	NHDF-Ad	bronchial
15	chr1:185966000-185978200	Weak transcription	NH-A	brain
16	chr1:185967800-185974400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:185972200-185977600	Weak transcription	Osteobl	bone
18	chr1:185972200-185983600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:185973800-185974200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:185974400-185976000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:185974400-185977600	Weak transcription	HUVEC	blood vessel

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