Variant report

Variant	esv3450745
Chromosome Location	chr1:227035195-227044100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 291 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:291 , 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	rs566774449	chr1:227035208-227035209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534216554	chr1:227035234-227035235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115465812	chr1:227035241-227035242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386639917	chr1:227035280-227035281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115198058	chr1:227035281-227035282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556591106	chr1:227035312-227035313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577776877	chr1:227035324-227035325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140596331	chr1:227035388-227035389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184478180	chr1:227035445-227035446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189209330	chr1:227035558-227035559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144445388	chr1:227035575-227035576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181913511	chr1:227035583-227035584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147823372	chr1:227035600-227035601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549628815	chr1:227035613-227035614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571283104	chr1:227035631-227035632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533355169	chr1:227035686-227035687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72756533	chr1:227035713-227035714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566710932	chr1:227035725-227035726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375267966	chr1:227035726-227035727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553383242	chr1:227035738-227035739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113561675	chr1:227035751-227035752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59881373	chr1:227035756-227035757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36028317	chr1:227035759-227035760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116343740	chr1:227035776-227035777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555617031	chr1:227035788-227035789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561731774	chr1:227035817-227035818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567572410	chr1:227035831-227035832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184276498	chr1:227035903-227035904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529303988	chr1:227035942-227035943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542689875	chr1:227035953-227035954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562779147	chr1:227035954-227035955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12075500	chr1:227036016-227036017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs58704550	chr1:227036034-227036035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189043845	chr1:227036042-227036043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572249791	chr1:227036043-227036044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34998682	chr1:227036180-227036181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77189970	chr1:227036191-227036192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397825099	chr1:227036193-227036194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565527522	chr1:227036256-227036257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561205059	chr1:227036318-227036319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79456205	chr1:227036348-227036349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181186908	chr1:227036353-227036354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116137996	chr1:227036392-227036393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186510806	chr1:227036397-227036398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116089217	chr1:227036401-227036402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534590177	chr1:227036407-227036408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527849734	chr1:227036429-227036430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549426940	chr1:227036488-227036489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149130672	chr1:227036539-227036540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12086302	chr1:227036556-227036557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:90)

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
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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227026800-227043800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:227034200-227035200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:227034200-227035400	Enhancers	NHEK	skin
4	chr1:227034400-227035200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:227034800-227035200	Enhancers	NHDF-Ad	bronchial
6	chr1:227035000-227036600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:227035000-227039800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:227035800-227036000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:227035800-227036200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:227035800-227036600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:227035800-227037600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:227035800-227037600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:227036000-227037000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:227036000-227037200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:227036200-227037200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:227036400-227037200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:227036600-227036800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:227036600-227037000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:227036800-227037000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:227037000-227037200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:227037000-227037400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:227037000-227037600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:227037200-227037800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:227037200-227038600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:227037200-227043600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:227037400-227038600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:227037600-227039000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:227037600-227039200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:227037600-227043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:227037800-227038600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:227038600-227039200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:227038600-227039400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:227038600-227039600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:227039000-227039600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:227039200-227039600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:227039200-227039600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:227039400-227044000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:227039600-227043800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:227043600-227044200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:227043800-227044200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:227043800-227044400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:227043800-227044400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:227044000-227044200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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