Variant report

Variant	esv2762806
Chromosome Location	chr2:126391798-126401821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:126398778..126400895-chr2:126402290..126404652,2	K562	blood:

Extended variants
information (count: 419 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547352308	chr2:126391802-126391803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533029306	chr2:126391838-126391839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549941429	chr2:126391842-126391843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550793738	chr2:126391845-126391846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373118803	chr2:126391846-126391847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565657711	chr2:126391865-126391866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563376466	chr2:126391872-126391873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528855305	chr2:126391911-126391912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12993771	chr2:126391947-126391948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566336871	chr2:126391962-126391963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535037633	chr2:126391964-126391965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3962037	chr2:126391991-126391992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs3980655	chr2:126392010-126392011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537547436	chr2:126392015-126392016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556986895	chr2:126392043-126392044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4399732	chr2:126392044-126392045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs62158224	chr2:126392085-126392086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140253073	chr2:126392107-126392108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572281868	chr2:126392123-126392124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541001339	chr2:126392158-126392159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369620323	chr2:126392170-126392171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35676767	chr2:126392180-126392181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573591815	chr2:126392181-126392182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578159813	chr2:126392234-126392235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543651845	chr2:126392260-126392261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563339671	chr2:126392261-126392262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529020477	chr2:126392290-126392291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548980315	chr2:126392293-126392294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144214289	chr2:126392314-126392315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116808800	chr2:126392319-126392320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181573662	chr2:126392370-126392371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571909165	chr2:126392391-126392392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147790220	chr2:126392449-126392450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550775803	chr2:126392471-126392472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563307263	chr2:126392518-126392519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567392269	chr2:126392536-126392537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542544619	chr2:126392593-126392594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553314765	chr2:126392665-126392666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573196806	chr2:126392688-126392689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534913776	chr2:126392693-126392694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371293708	chr2:126392715-126392716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs57115138	chr2:126392729-126392730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6728784	chr2:126392803-126392804	Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs577885544	chr2:126392807-126392808	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141207635	chr2:126392811-126392812	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149913500	chr2:126392815-126392816	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12478206	chr2:126392893-126392894	Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542788166	chr2:126392904-126392905	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12466349	chr2:126392950-126392951	Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528025621	chr2:126392958-126392959	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Bladder cancer	21909424	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126391600-126393000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:126392000-126392600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:126392000-126392800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:126392200-126392800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:126392200-126392800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:126392800-126393200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:126393200-126399200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:126396800-126397000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:126397000-126399200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:126397200-126397400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:126397400-126398200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:126398200-126399000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:126398200-126400200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:126398400-126398800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:126399200-126399400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:126399200-126399400	Enhancers	GM12878-XiMat	blood
17	chr2:126399200-126399800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:126399200-126401000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr2:126399400-126400400	Weak transcription	GM12878-XiMat	blood
20	chr2:126399400-126401200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:126399800-126401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:126400200-126400600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr2:126400200-126401000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:126400400-126400600	Flanking Active TSS	GM12878-XiMat	blood
25	chr2:126400600-126401000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr2:126400600-126401000	Active TSS	GM12878-XiMat	blood
27	chr2:126400800-126401200	Active TSS	Adipose Nuclei	Adipose
28	chr2:126401000-126401200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:126401000-126401400	Enhancers	Fetal Stomach	stomach
30	chr2:126401000-126401400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr2:126401000-126401400	Flanking Active TSS	GM12878-XiMat	blood
32	chr2:126401000-126401600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr2:126401200-126401400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr2:126401200-126401600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr2:126401200-126402000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:126401400-126401600	Enhancers	GM12878-XiMat	blood
37	chr2:126401400-126401800	Enhancers	Fetal Lung	lung
38	chr2:126401600-126401800	Flanking Active TSS	GM12878-XiMat	blood
39	chr2:126401600-126402000	Enhancers	Adipose Nuclei	Adipose
40	chr2:126401600-126402000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr2:126401800-126402200	Enhancers	GM12878-XiMat	blood

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