Variant report

Variant	esv3437419
Chromosome Location	chr1:226781441-226783878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr1:226783314-226783628	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226781867..226783443-chr1:226785494..226787232,2	K562	blood:

Variant related genes	Relation type
C1orf95	TF binding region

Extended variants
information (count: 94 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532349123	chr1:226781485-226781486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530943362	chr1:226781502-226781503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565992381	chr1:226781518-226781519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536223869	chr1:226781536-226781537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547853107	chr1:226781610-226781611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116368949	chr1:226781615-226781616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139028455	chr1:226781626-226781627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553947084	chr1:226781702-226781703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558668017	chr1:226781716-226781717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577770512	chr1:226781734-226781735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538860443	chr1:226781753-226781754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375378283	chr1:226781785-226781786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35822279	chr1:226781786-226781787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572428556	chr1:226781791-226781792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543334528	chr1:226781797-226781798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149969825	chr1:226781803-226781804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576428015	chr1:226781804-226781805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573360202	chr1:226781809-226781810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543504545	chr1:226781878-226781879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565387349	chr1:226781888-226781889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542317929	chr1:226781916-226781917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532311395	chr1:226782016-226782017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547632362	chr1:226782034-226782035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559613693	chr1:226782069-226782070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529998488	chr1:226782109-226782110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555887086	chr1:226782140-226782141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548503211	chr1:226782178-226782179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569548519	chr1:226782260-226782261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537053946	chr1:226782266-226782267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551946249	chr1:226782279-226782280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369435975	chr1:226782301-226782302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570228738	chr1:226782306-226782307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73098838	chr1:226782314-226782315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553927915	chr1:226782339-226782340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369688104	chr1:226782367-226782368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572341436	chr1:226782412-226782413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191675116	chr1:226782456-226782457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113897055	chr1:226782458-226782459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576315896	chr1:226782501-226782502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552106320	chr1:226782505-226782506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369038594	chr1:226782536-226782537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564604679	chr1:226782537-226782538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578215006	chr1:226782587-226782588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113258538	chr1:226782603-226782604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565350840	chr1:226782606-226782607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75937453	chr1:226782646-226782647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570854575	chr1:226782648-226782649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77186454	chr1:226782649-226782650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559743230	chr1:226782651-226782652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185615671	chr1:226782652-226782653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Schizophrenia	23813976	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226765000-226790000	Weak transcription	Right Atrium	heart
2	chr1:226774800-226790200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:226776800-226783600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:226777400-226783200	Weak transcription	Brain Anterior Caudate	brain
5	chr1:226778800-226790400	Weak transcription	Fetal Brain Female	brain
6	chr1:226781400-226781600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:226781800-226782000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:226782000-226784400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:226783200-226783600	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr1:226783400-226784000	ZNF genes & repeats	Fetal Stomach	stomach
11	chr1:226783600-226784000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr1:226783600-226784200	Weak transcription	Brain Anterior Caudate	brain

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