Variant report

Variant	nsv1002070
Chromosome Location	chr2:185043076-185116327
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:185039098..185041209-chr2:185044660..185047313,2	K562	blood:
2	chr2:185063557..185066298-chr2:185074059..185077042,2	K562	blood:
3	chr2:185049732..185051441-chr2:185066416..185068378,2	K562	blood:
4	chr2:185056201..185058976-chr2:185059740..185064773,6	K562	blood:
5	chr2:185066479..185068495-chr2:185209496..185211402,2	K562	blood:
6	chr2:185073490..185075521-chr2:185077251..185078979,2	K562	blood:
7	chr2:185049732..185051441-chr2:185066416..185068378,2	K562	blood:
8	chr2:185030293..185033303-chr2:185042017..185046003,4	K562	blood:
9	chr2:185056201..185058411-chr2:185059740..185062010,3	K562	blood:
10	chr2:185069331..185071140-chr2:185086941..185089740,2	K562	blood:
11	chr2:185039166..185041142-chr2:185069813..185071820,2	K562	blood:
12	chr2:185073976..185076039-chr2:185080302..185082080,2	K562	blood:
13	chr2:185020880..185023021-chr2:185080890..185083971,3	K562	blood:
14	chr2:185073976..185076039-chr2:185080302..185082080,2	K562	blood:
15	chr2:185050606..185053529-chr2:185055758..185057591,2	K562	blood:
16	chr2:185046979..185048851-chr2:185065608..185068607,2	K562	blood:
17	chr2:185050606..185053529-chr2:185055758..185057591,2	K562	blood:
18	chr2:185052728..185055643-chr2:185086397..185088845,2	K562	blood:
19	chr2:185052029..185054073-chr2:185054906..185057591,2	K562	blood:
20	chr2:185046979..185048851-chr2:185065608..185068607,2	K562	blood:
21	chr2:185115001..185116702-chr2:185121013..185123546,2	K562	blood:
22	chr2:185056201..185058976-chr2:185059740..185064773,6	K562	blood:
23	chr2:185068138..185070964-chr2:185088334..185090815,2	K562	blood:
24	chr2:185063557..185066298-chr2:185074059..185077042,2	K562	blood:
25	chr2:185103488..185105465-chr2:185244326..185245928,2	K562	blood:
26	chr2:185052728..185055643-chr2:185086397..185088845,2	K562	blood:
27	chr2:185068138..185070964-chr2:185088334..185090815,2	K562	blood:
28	chr2:185032130..185034735-chr2:185068262..185070242,2	K562	blood:
29	chr2:185027163..185028822-chr2:185041434..185043457,2	K562	blood:
30	chr2:185053723..185055741-chr2:185058684..185061541,2	K562	blood:
31	chr2:185056201..185058411-chr2:185059740..185062010,3	K562	blood:
32	chr2:185086289..185087889-chr2:185091229..185094182,2	K562	blood:
33	chr2:185048995..185051495-chr2:185054071..185055731,2	K562	blood:
34	chr2:185069331..185071140-chr2:185086941..185089740,2	K562	blood:
35	chr2:185073490..185075521-chr2:185077251..185078979,2	K562	blood:
36	chr2:185048995..185051495-chr2:185054071..185055731,2	K562	blood:
37	chr2:185052029..185054073-chr2:185054906..185057591,2	K562	blood:
38	chr15:41186270..41188900-chr2:185100150..185103068,2	K562	blood:
39	chr2:185065862..185068679-chr2:185266062..185268642,2	K562	blood:
40	chr2:185030205..185032507-chr2:185041818..185044084,3	K562	blood:
41	chr2:185086289..185087889-chr2:185091229..185094182,2	K562	blood:
42	chr2:185017202..185019755-chr2:185059188..185062172,2	K562	blood:
43	chr2:185053723..185055741-chr2:185058684..185061541,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104142	chromatin interactions

Extended variants
information (count: 791 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143036139	chr2:185043107-185043108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542457467	chr2:185043132-185043133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189313457	chr2:185043133-185043134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367747932	chr2:185043156-185043157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180984486	chr2:185043179-185043180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538530498	chr2:185043196-185043197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561394108	chr2:185043233-185043234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200045572	chr2:185043317-185043318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547505658	chr2:185043345-185043346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553018748	chr2:185043349-185043350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75495478	chr2:185043355-185043356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35643085	chr2:185043361-185043362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1997131	chr2:185043362-185043363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375546566	chr2:185043369-185043370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186027228	chr2:185043433-185043434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546505107	chr2:185043481-185043482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs55914312	chr2:185043505-185043506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532116607	chr2:185043524-185043525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191249295	chr2:185043572-185043573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569978937	chr2:185043579-185043580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547431145	chr2:185043620-185043621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369438052	chr2:185043633-185043634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559448577	chr2:185043657-185043658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529798460	chr2:185043723-185043724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139618060	chr2:185043748-185043749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79201614	chr2:185043750-185043751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569820826	chr2:185043776-185043777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76439447	chr2:185052205-185052206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188799774	chr2:185052235-185052236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576787651	chr2:185052294-185052295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529174836	chr2:185052299-185052300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369026457	chr2:185052342-185052343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545606674	chr2:185052352-185052353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76408227	chr2:185052353-185052354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11690094	chr2:185052358-185052359	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562592944	chr2:185052374-185052375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546914129	chr2:185052386-185052387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138173755	chr2:185052418-185052419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529335933	chr2:185052434-185052435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551066294	chr2:185052545-185052546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115626693	chr2:185052564-185052565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539997845	chr2:185052597-185052598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181129203	chr2:185052599-185052600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78990956	chr2:185055401-185055402	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529673144	chr2:185055405-185055406	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs567383556	chr2:185055467-185055468	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs189180419	chr2:185055540-185055541	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs550000048	chr2:185055578-185055579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs16825621	chr2:185055583-185055584	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs62174978	chr2:185055606-185055607	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185043000-185043400	Enhancers	Liver	Liver
2	chr2:185043000-185043800	Enhancers	Hela-S3	cervix
3	chr2:185052200-185052600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:185052400-185052600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:185055400-185057600	Active TSS	K562	blood
6	chr2:185057600-185063400	Weak transcription	K562	blood
7	chr2:185060600-185061200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:185060800-185063400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:185061000-185061200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:185061200-185062200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:185061600-185063600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:185061600-185063600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:185061800-185063800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:185062200-185062600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:185062200-185063600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:185062400-185063400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:185062600-185063000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:185063200-185063600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:185063400-185063800	Enhancers	K562	blood
20	chr2:185063800-185067000	Weak transcription	K562	blood
21	chr2:185067000-185070800	Active TSS	K562	blood
22	chr2:185068600-185069000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr2:185070800-185071800	Weak transcription	K562	blood
24	chr2:185071800-185072000	Enhancers	K562	blood
25	chr2:185100000-185100200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr2:185100200-185100800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr2:185116200-185116600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:185116200-185117000	Enhancers	Adipose Nuclei	Adipose

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