Variant report

Variant	esv3323289
Chromosome Location	chr1:222144429-222148627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 259 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2800844	chr1:222144436-222144437	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573418403	chr1:222144441-222144442	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113486821	chr1:222144445-222144446	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2800843	chr1:222144456-222144457	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562092269	chr1:222144462-222144463	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573887790	chr1:222144463-222144464	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200851379	chr1:222144473-222144474	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111662448	chr1:222144481-222144482	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12812465	chr1:222144484-222144485	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12812457	chr1:222144492-222144493	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191359669	chr1:222144494-222144495	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532890417	chr1:222144538-222144539	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201681583	chr1:222144566-222144567	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545451345	chr1:222144585-222144586	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564115769	chr1:222144593-222144594	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117715722	chr1:222144603-222144604	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141250765	chr1:222144618-222144619	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183229992	chr1:222144633-222144634	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368712438	chr1:222144656-222144657	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187484991	chr1:222144657-222144658	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34108602	chr1:222144676-222144677	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569225147	chr1:222144690-222144691	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12035688	chr1:222144780-222144781	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564358577	chr1:222144786-222144787	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557820059	chr1:222144798-222144799	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150985984	chr1:222144810-222144811	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140803299	chr1:222144815-222144816	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368321456	chr1:222144824-222144825	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574024210	chr1:222144825-222144826	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527663924	chr1:222144834-222144835	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544374644	chr1:222144848-222144849	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192009463	chr1:222144849-222144850	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191828058	chr1:222144854-222144855	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541743232	chr1:222144867-222144868	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184786847	chr1:222144870-222144871	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575258133	chr1:222144871-222144872	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372936498	chr1:222144884-222144885	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545883835	chr1:222144892-222144893	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187622429	chr1:222144895-222144896	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2790761	chr1:222144896-222144897	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540264244	chr1:222144899-222144900	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561413588	chr1:222144904-222144905	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79553734	chr1:222144948-222144949	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149359135	chr1:222144957-222144958	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550066814	chr1:222144962-222144963	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569037585	chr1:222144967-222144968	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376613148	chr1:222144968-222144969	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34245409	chr1:222144996-222144997	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533026220	chr1:222144997-222144998	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397774865	chr1:222145004-222145005	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222138200-222146000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:222139000-222152200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:222139200-222145000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:222139400-222145200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:222141000-222145800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:222141200-222145000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:222142600-222145000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:222142800-222144600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:222142800-222148000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:222143000-222144800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:222143000-222145000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:222143800-222145000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:222143800-222145000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:222143800-222148400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:222144200-222144600	Weak transcription	Hela-S3	cervix
16	chr1:222144400-222147600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr1:222144600-222145000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:222144600-222146000	Enhancers	Hela-S3	cervix
19	chr1:222144600-222147600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:222144800-222145000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:222145000-222145200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:222145000-222145200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr1:222145000-222145400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
24	chr1:222145000-222145400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr1:222145000-222145600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:222145000-222146400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:222145000-222146400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:222145200-222145400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
29	chr1:222145200-222145400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:222145200-222146400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:222145400-222145600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:222145400-222145600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:222145400-222145600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:222145400-222145800	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:222145600-222145800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
36	chr1:222145600-222145800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr1:222145600-222145800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:222145600-222146400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:222145800-222146000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr1:222145800-222146200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:222145800-222146200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr1:222145800-222146200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr1:222145800-222146200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:222145800-222146400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr1:222145800-222146400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr1:222146000-222146200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:222146000-222146400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:222146000-222147600	Weak transcription	Hela-S3	cervix
49	chr1:222146200-222146400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:222146200-222146400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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