Variant report

Variant	nsv1006725
Chromosome Location	chr2:126232594-126426312
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:1)
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	chr2:126413571..126415580-chr2:126417629..126419546,2	K562	blood:
2	chr2:126423393..126427272-chr2:126428665..126431892,3	K562	blood:
3	chr2:126412945..126415071-chr2:126417219..126419546,2	K562	blood:
4	chr2:126324067..126325943-chr2:126329563..126331533,2	K562	blood:
5	chr2:126398778..126400895-chr2:126402290..126404652,2	K562	blood:
6	chr2:126398778..126400895-chr2:126402290..126404652,2	K562	blood:
7	chr2:126413571..126415580-chr2:126417629..126419546,2	K562	blood:
8	chr2:126324067..126325943-chr2:126329563..126331533,2	K562	blood:
9	chr2:126047722..126049606-chr2:126299311..126300955,2	K562	blood:
10	chr2:126412945..126415071-chr2:126417219..126419546,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTNAP5-9	chr2:126239624-126239889	NONHSAT074116

No data

Extended variants
information (count: 2421 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2421 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368269679	chr2:126234000-126234001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs146705621	chr2:126234014-126234015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371086339	chr2:126234058-126234059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs192821868	chr2:126234092-126234093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548168149	chr2:126234104-126234105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs192457813	chr2:126234111-126234112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568163179	chr2:126234146-126234147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs149189198	chr2:126234168-126234169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs34008598	chr2:126234178-126234179	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs62159703	chr2:126234262-126234263	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185844923	chr2:126234290-126234291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558501995	chr2:126234299-126234300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568921305	chr2:126234323-126234324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs552879840	chr2:126234340-126234341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs367819240	chr2:126234362-126234363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs13030831	chr2:126234439-126234440	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188757027	chr2:126234485-126234486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574493050	chr2:126234489-126234490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540893716	chr2:126234594-126234595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569309837	chr2:126236419-126236420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529537007	chr2:126236421-126236422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs12711704	chr2:126236481-126236482	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192570396	chr2:126236492-126236493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs367911954	chr2:126236499-126236500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs149000238	chr2:126236501-126236502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs70941163	chr2:126236540-126236541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558348008	chr2:126236543-126236544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113313154	chr2:126236551-126236552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs537555730	chr2:126236555-126236556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557389862	chr2:126236557-126236558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs574123568	chr2:126236578-126236579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs530964395	chr2:126236579-126236580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs550659366	chr2:126236580-126236581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542128238	chr2:126236617-126236618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs184796405	chr2:126236627-126236628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs572326389	chr2:126236680-126236681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs540831857	chr2:126236683-126236684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs370699596	chr2:126236685-126236686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs12612660	chr2:126236687-126236688	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545863288	chr2:126236705-126236706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs551670108	chr2:126236719-126236720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs562931582	chr2:126236727-126236728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528888021	chr2:126236752-126236753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs376434466	chr2:126236759-126236760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs548592402	chr2:126236775-126236776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs71413403	chr2:126236789-126236790	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528793302	chr2:126236792-126236793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs71413404	chr2:126236795-126236796	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186816125	chr2:126236797-126236798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs191274935	chr2:126236818-126236819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126234000-126234600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:126236400-126237400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:126236600-126237200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr2:126236600-126237200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:126265000-126265200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:126265200-126265800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr2:126267800-126268200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:126267800-126268200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:126267800-126268200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:126268000-126268600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:126268200-126270400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:126268200-126270400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:126270400-126270800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:126270400-126271000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:126270400-126271200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:126274000-126274200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr2:126275000-126275200	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr2:126283800-126284200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:126284000-126284200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:126284000-126284200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:126284200-126285200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:126284200-126285200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:126284400-126285400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:126285200-126286600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:126285200-126286800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:126285200-126287200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:126285400-126286600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:126285400-126286600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:126285400-126286800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:126285800-126286800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:126301600-126302600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:126310800-126311000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:126311800-126312200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:126314600-126315000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:126316600-126317000	Enhancers	GM12878-XiMat	blood
36	chr2:126318200-126319200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr2:126318400-126318600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:126318400-126319200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr2:126318600-126323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:126319200-126319400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr2:126319200-126319400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr2:126319400-126320600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:126319400-126322000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr2:126320600-126321600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr2:126322000-126323400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:126322200-126323200	Enhancers	Adipose Nuclei	Adipose
47	chr2:126323200-126324000	Weak transcription	Adipose Nuclei	Adipose
48	chr2:126323600-126323800	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr2:126323600-126323800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr2:126324000-126324200	Enhancers	Adipose Nuclei	Adipose

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