Variant report

Variant	esv3452678
Chromosome Location	chr1:210284385-210289804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370896435	chr1:210284424-210284425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28451781	chr1:210284443-210284444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376901150	chr1:210284509-210284510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552118496	chr1:210284512-210284513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4844945	chr1:210284513-210284514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538289086	chr1:210284515-210284516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556886184	chr1:210284532-210284533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569021642	chr1:210284567-210284568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35692623	chr1:210284580-210284581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575960363	chr1:210284659-210284660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554880304	chr1:210284677-210284678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572913488	chr1:210284714-210284715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113279193	chr1:210284717-210284718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535806911	chr1:210284746-210284747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139917433	chr1:210284775-210284776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112132697	chr1:210284815-210284816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544255447	chr1:210284876-210284877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562982779	chr1:210284913-210284914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377541618	chr1:210284924-210284925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141896524	chr1:210285009-210285010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574919419	chr1:210285014-210285015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191986950	chr1:210285046-210285047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183527322	chr1:210285097-210285098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113581719	chr1:210285109-210285110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530800121	chr1:210285120-210285121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146267848	chr1:210285175-210285176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75654779	chr1:210285221-210285222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539066573	chr1:210285222-210285223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375461347	chr1:210285244-210285245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531750697	chr1:210285252-210285253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72649951	chr1:210285256-210285257	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115288265	chr1:210285257-210285258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188916242	chr1:210285276-210285277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12408689	chr1:210285308-210285309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139124323	chr1:210285337-210285338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193101253	chr1:210285349-210285350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182286954	chr1:210285365-210285366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149871189	chr1:210285366-210285367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186953366	chr1:210285385-210285386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556203915	chr1:210285390-210285391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs578099829	chr1:210285394-210285395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574968211	chr1:210285397-210285398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542039119	chr1:210285428-210285429	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59230578	chr1:210285439-210285440	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs374528573	chr1:210285476-210285477	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148627886	chr1:210285494-210285495	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111726611	chr1:210285496-210285497	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6657984	chr1:210285529-210285530	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191729025	chr1:210285613-210285614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542955967	chr1:210285672-210285673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210260600-210285200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:210268400-210287400	Weak transcription	Brain Germinal Matrix	brain
3	chr1:210273600-210284600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:210274200-210290600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:210276600-210285400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:210280000-210290600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:210283000-210298000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:210284800-210285200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:210285000-210285200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:210285200-210285400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:210285200-210285600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:210285400-210286400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr1:210285400-210288400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr1:210285600-210288000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:210286400-210289200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:210287400-210287800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:210287800-210289200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:210288000-210288400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:210288400-210289600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:210289000-210289600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:210289200-210289800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:210289200-210290000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:210289400-210289600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:210289400-210290000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:210289400-210291800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:210289400-210291800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:210289600-210290000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr1:210289600-210290400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:210289600-210290600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:210289600-210290600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:210289600-210291000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:210289800-210290800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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