Variant report

Variant	esv3435326
Chromosome Location	chr1:223812498-223813312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223809528..223812099-chr1:223812404..223815945,3	K562	blood:
2	chr1:223809178..223812919-chr1:223814445..223817998,4	K562	blood:
3	chr1:223801253..223805310-chr1:223810350..223813712,3	K562	blood:

Variant related genes	Relation type
ENSG00000203697	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559902910	chr1:223812518-223812519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573786641	chr1:223812521-223812522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566097924	chr1:223812525-223812526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527424335	chr1:223812530-223812531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375291029	chr1:223812554-223812555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549084612	chr1:223812561-223812562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567312618	chr1:223812567-223812568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542509079	chr1:223812568-223812569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191113317	chr1:223812575-223812576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558956507	chr1:223812578-223812579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577436521	chr1:223812589-223812590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141311480	chr1:223812624-223812625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553942816	chr1:223812651-223812652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572138238	chr1:223812656-223812657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542956743	chr1:223812663-223812664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs71524966	chr1:223812664-223812665	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs376498386	chr1:223812668-223812669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576025031	chr1:223812698-223812699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543032131	chr1:223812727-223812728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372059473	chr1:223812759-223812760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370852309	chr1:223812781-223812782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138728636	chr1:223812789-223812790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532084634	chr1:223812790-223812791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201475694	chr1:223812814-223812815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs148999410	chr1:223812820-223812821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377344236	chr1:223812858-223812859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185033248	chr1:223812876-223812877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs61825182	chr1:223812888-223812889	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551231672	chr1:223812913-223812914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35137887	chr1:223812928-223812929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386639751	chr1:223812933-223812934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112335730	chr1:223812934-223812935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386639752	chr1:223812935-223812936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79263940	chr1:223812936-223812937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537711494	chr1:223812941-223812942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79700270	chr1:223812997-223812998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527377731	chr1:223813038-223813039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570818830	chr1:223813049-223813050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35424848	chr1:223813064-223813065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535166144	chr1:223813075-223813076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553189273	chr1:223813096-223813097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547555614	chr1:223813136-223813137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566911130	chr1:223813144-223813145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189556773	chr1:223813164-223813165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554717878	chr1:223813165-223813166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575955782	chr1:223813171-223813172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35189569	chr1:223813179-223813180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35536538	chr1:223813184-223813185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576424867	chr1:223813190-223813191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182088172	chr1:223813276-223813277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223799400-223815400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:223802800-223821000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:223806200-223816400	Weak transcription	Lung	lung
4	chr1:223808600-223825000	Weak transcription	Gastric	stomach
5	chr1:223809600-223827600	Weak transcription	Colonic Mucosa	Colon
6	chr1:223810600-223815000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:223812000-223813400	Weak transcription	Fetal Stomach	stomach
8	chr1:223812200-223819400	Weak transcription	Stomach Mucosa	stomach

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