Variant report

Variant	esv3341360
Chromosome Location	chr1:196571179-196573277
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	chr1:196569536..196572228-chr1:196576361..196578851,2	K562	blood:

Variant related genes	Relation type
ENSG00000162687	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61005987	chr1:196571201-196571202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112276108	chr1:196571212-196571213	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368447458	chr1:196571234-196571235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553585756	chr1:196571250-196571251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114065066	chr1:196571268-196571269	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541984385	chr1:196571326-196571327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542151600	chr1:196571368-196571369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189914853	chr1:196571384-196571385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12086724	chr1:196571395-196571396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182704614	chr1:196571405-196571406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79664769	chr1:196571434-196571435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528100032	chr1:196571442-196571443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545513132	chr1:196571443-196571444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371293849	chr1:196571454-196571455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112086429	chr1:196571537-196571538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574180322	chr1:196571542-196571543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374131068	chr1:196571593-196571594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528157577	chr1:196571639-196571640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367716574	chr1:196571697-196571698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551152664	chr1:196571710-196571711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569360123	chr1:196571717-196571718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533416968	chr1:196571800-196571801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143101460	chr1:196571809-196571810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546216786	chr1:196571811-196571812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192121368	chr1:196571835-196571836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566838258	chr1:196571836-196571837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183600424	chr1:196571839-196571840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187352624	chr1:196571852-196571853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550555365	chr1:196571854-196571855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371544496	chr1:196571877-196571878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372490797	chr1:196571898-196571899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576012379	chr1:196571901-196571902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148932905	chr1:196571925-196571926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555822570	chr1:196571975-196571976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568339298	chr1:196572002-196572003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535422315	chr1:196572078-196572079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141595176	chr1:196572102-196572103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544850635	chr1:196572106-196572107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371890369	chr1:196572138-196572139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375197056	chr1:196572157-196572158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12088066	chr1:196572203-196572204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368093304	chr1:196572206-196572207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191789667	chr1:196572207-196572208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113287047	chr1:196572208-196572209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539820813	chr1:196572209-196572210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1571489	chr1:196572298-196572299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529582683	chr1:196572306-196572307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544580434	chr1:196572368-196572369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539224697	chr1:196572373-196572374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563068551	chr1:196572399-196572400	Weak transcription	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
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
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	19036926	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196557800-196574200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:196558000-196574400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:196558400-196574200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:196558400-196575000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:196560600-196571200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:196564000-196575800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:196569400-196572800	Weak transcription	Liver	Liver
8	chr1:196570800-196575800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:196571200-196571600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:196571600-196574800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:196572600-196575800	Weak transcription	Fetal Kidney	kidney
12	chr1:196572800-196573000	Enhancers	Liver	Liver
13	chr1:196572800-196573400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:196573000-196573400	Flanking Active TSS	Liver	Liver
15	chr1:196573200-196573400	Enhancers	Rectal Smooth Muscle	rectum

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