Variant report

Variant	esv1819894
Chromosome Location	chr2:127002831-127008196
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:127002328..127003186-chr2:127807433..127808421,2	K562	blood:
2	chr2:127005924..127008963-chr2:127010494..127013764,3	K562	blood:
3	chr2:127002510..127003198-chr2:127534689..127535540,2	MCF-7	breast:
4	chr2:127005363..127007196-chr2:127065380..127068265,2	K562	blood:
5	chr2:127002488..127003146-chr2:127240428..127241073,2	K562	blood:
6	chr2:127002261..127003206-chr2:127534544..127535568,4	MCF-7	breast:
7	chr2:127000756..127002293-chr2:127004018..127005768,2	MCF-7	breast:
8	chr2:126502797..126503723-chr2:127002290..127003108,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235774	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571492879	chr2:127002833-127002834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146548208	chr2:127002865-127002866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559480134	chr2:127002870-127002871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372967198	chr2:127002904-127002905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557258457	chr2:127002918-127002919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114605114	chr2:127002942-127002943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72841582	chr2:127002970-127002971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555395347	chr2:127003026-127003027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572218092	chr2:127003046-127003047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141276989	chr2:127003139-127003140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558046663	chr2:127003156-127003157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77764399	chr2:127003204-127003205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77050019	chr2:127003205-127003206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564055066	chr2:127003208-127003209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561519863	chr2:127003239-127003240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528845199	chr2:127003247-127003248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28471045	chr2:127003293-127003294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542651341	chr2:127003303-127003304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190018068	chr2:127003320-127003321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28696992	chr2:127003322-127003323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528220062	chr2:127003327-127003328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142561270	chr2:127003342-127003343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs423732	chr2:127003343-127003344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1630430	chr2:127003345-127003346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139858151	chr2:127003349-127003350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147646072	chr2:127003351-127003352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71421996	chr2:127003353-127003354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76469632	chr2:127003358-127003359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571340412	chr2:127003368-127003369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530775300	chr2:127003370-127003371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550598550	chr2:127003372-127003373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570727984	chr2:127003376-127003377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567555037	chr2:127003461-127003462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145079102	chr2:127003469-127003470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186527840	chr2:127003470-127003471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565764387	chr2:127003497-127003498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28707032	chr2:127003506-127003507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374276031	chr2:127003618-127003619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558271848	chr2:127003620-127003621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201742974	chr2:127003642-127003643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578106863	chr2:127003653-127003654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543997526	chr2:127003659-127003660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200433450	chr2:127003660-127003661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28588760	chr2:127003661-127003662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183640981	chr2:127003683-127003684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574399613	chr2:127003690-127003691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542614346	chr2:127003699-127003700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559372666	chr2:127003748-127003749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189053610	chr2:127003756-127003757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193145094	chr2:127003760-127003761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127000800-127004800	Weak transcription	Fetal Lung	lung
2	chr2:127004800-127007000	Enhancers	Fetal Lung	lung
3	chr2:127007000-127010600	Weak transcription	Fetal Lung	lung

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