Variant report

Variant	esv3441514
Chromosome Location	chr1:197892954-197895502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197890068..197892957-chr1:197897006..197899178,2	K562	blood:
2	chr1:197584129..197584940-chr1:197893429..197894167,4	MCF-7	breast:
3	chr1:197890943..197893106-chr1:197894108..197896331,3	K562	blood:
4	chr1:197490338..197491289-chr1:197893428..197894214,3	MCF-7	breast:
5	chr1:197584245..197585109-chr1:197893726..197894310,2	MCF-7	breast:
6	chr1:197369298..197369841-chr1:197893280..197894107,2	MCF-7	breast:
7	chr1:197744305..197744943-chr1:197893354..197894081,2	K562	blood:
8	chr1:197890943..197893106-chr1:197894108..197896331,3	K562	blood:
9	chr1:197661830..197662539-chr1:197893369..197893878,3	MCF-7	breast:
10	chr1:197496825..197498646-chr1:197892256..197894438,2	MCF-7	breast:
11	chr1:197870531..197872562-chr1:197893700..197896625,2	K562	blood:
12	chr1:197889791..197892957-chr1:197895831..197898506,3	K562	blood:
13	chr1:197895311..197899448-chr1:197962393..197965132,3	K562	blood:
14	chr1:197360706..197361276-chr1:197893436..197894290,4	MCF-7	breast:
15	chr1:197865545..197868503-chr1:197890985..197893246,2	K562	blood:
16	chr1:197495874..197496814-chr1:197893397..197894241,3	MCF-7	breast:
17	chr1:197490059..197490926-chr1:197893382..197894293,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203724	chromatin interactions
ENSG00000213047	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540824325	chr1:197892966-197892967	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185052168	chr1:197893021-197893022	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529520230	chr1:197893048-197893049	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74134514	chr1:197893051-197893052	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562316403	chr1:197893091-197893092	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34700937	chr1:197893117-197893118	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13374700	chr1:197893128-197893129	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118134794	chr1:197893140-197893141	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566226878	chr1:197893144-197893145	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6699938	chr1:197893152-197893153	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548730517	chr1:197893279-197893280	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527995814	chr1:197893293-197893294	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370445029	chr1:197893295-197893296	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77816243	chr1:197893303-197893304	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537724516	chr1:197893334-197893335	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149601509	chr1:197893335-197893336	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189983011	chr1:197893349-197893350	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545162989	chr1:197893366-197893367	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539830694	chr1:197893372-197893373	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558327815	chr1:197893396-197893397	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573328487	chr1:197893446-197893447	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540838710	chr1:197893496-197893497	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114445286	chr1:197893506-197893507	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182081097	chr1:197893545-197893546	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184640068	chr1:197893549-197893550	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544614929	chr1:197893570-197893571	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553955638	chr1:197893620-197893621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572357429	chr1:197893676-197893677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370734529	chr1:197893722-197893723	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs115256434	chr1:197893730-197893731	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532812365	chr1:197893759-197893760	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs189373986	chr1:197893771-197893772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs4915254	chr1:197893792-197893793	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs372518288	chr1:197893794-197893795	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs559828838	chr1:197893838-197893839	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs144328487	chr1:197893892-197893893	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549184495	chr1:197893913-197893914	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368402748	chr1:197894004-197894005	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140632793	chr1:197894009-197894010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs558578964	chr1:197894019-197894020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148357439	chr1:197894049-197894050	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549846018	chr1:197894080-197894081	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs531718802	chr1:197894221-197894222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141532336	chr1:197894252-197894253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539842260	chr1:197894268-197894269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113494044	chr1:197894269-197894270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150894930	chr1:197894279-197894280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200375158	chr1:197894314-197894315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534257432	chr1:197894361-197894362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555808286	chr1:197894370-197894371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197889400-197893000	Weak transcription	Right Atrium	heart
2	chr1:197891800-197893600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:197892000-197895600	Weak transcription	Ovary	ovary
4	chr1:197893000-197893200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:197893000-197893200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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