Variant report

Variant	esv2461437
Chromosome Location	chr1:212436159-212437760
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212434393..212437066-chr1:212439092..212441986,2	K562	blood:
2	chr1:211770787..211772402-chr1:212434054..212436587,2	K562	blood:
3	chr1:212433580..212437066-chr1:212438671..212444004,6	K562	blood:
4	chr1:212433329..212435940-chr1:212436148..212437997,2	K562	blood:
5	chr1:212427899..212432292-chr1:212432529..212438731,7	K562	blood:
6	chr1:212406214..212407731-chr1:212435193..212437929,2	K562	blood:
7	chr1:212432994..212436361-chr1:212456253..212459634,4	K562	blood:
8	chr1:212428875..212432292-chr1:212434801..212437724,6	K562	blood:
9	chr1:212432987..212434829-chr1:212436497..212438053,2	K562	blood:
10	chr1:212404851..212407731-chr1:212434475..212437929,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066027	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554851063	chr1:212436249-212436250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573033340	chr1:212436261-212436262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562570047	chr1:212436267-212436268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529679077	chr1:212436277-212436278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561059465	chr1:212436292-212436293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559854211	chr1:212436338-212436339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574400959	chr1:212436367-212436368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188498541	chr1:212436393-212436394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192124633	chr1:212436457-212436458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563580496	chr1:212436537-212436538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530938781	chr1:212436709-212436710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553547820	chr1:212436729-212436730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371232500	chr1:212436768-212436769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138141593	chr1:212436774-212436775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567966897	chr1:212436811-212436812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571780453	chr1:212436817-212436818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142155869	chr1:212436858-212436859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544040046	chr1:212436859-212436860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546818981	chr1:212436860-212436861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570994597	chr1:212436879-212436880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74138120	chr1:212436981-212436982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550546354	chr1:212437020-212437021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568713160	chr1:212437059-212437060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536253241	chr1:212437093-212437094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376354087	chr1:212437160-212437161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146248361	chr1:212437203-212437204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573193938	chr1:212437230-212437231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376702076	chr1:212437300-212437301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533950982	chr1:212437354-212437355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs351407	chr1:212437442-212437443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs72752362	chr1:212437487-212437488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545127244	chr1:212437543-212437544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552940216	chr1:212437548-212437549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184173000	chr1:212437558-212437559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575519139	chr1:212437566-212437567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190718193	chr1:212437573-212437574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115411548	chr1:212437627-212437628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386639105	chr1:212437719-212437720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12066356	chr1:212437720-212437721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs78936222	chr1:212437743-212437744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59354031	chr1:212437757-212437758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
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
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
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
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
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
Hepatocellular carcinoma	16750200	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
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212435200-212445600	Weak transcription	Right Atrium	heart
2	chr1:212435400-212444600	Weak transcription	Stomach Mucosa	stomach
3	chr1:212435600-212444400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:212435800-212444800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:212436000-212442600	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links