Variant report

Variant	nsv963673
Chromosome Location	chr2:100971453-100986967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100873531..100875703-chr2:100970860..100973010,2	K562	blood:
2	chr2:100937836..100939384-chr2:100985447..100988278,2	K562	blood:
3	chr2:100983538..100985756-chr2:100989415..100992137,2	K562	blood:

Variant related genes	Relation type
ENSG00000170500	chromatin interactions

Extended variants
information (count: 319 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184788133	chr2:100975843-100975844	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs549624602	chr2:100975865-100975866	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs569631543	chr2:100975900-100975901	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs529049018	chr2:100975962-100975963	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs549188287	chr2:100975968-100975969	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs536696509	chr2:100975971-100975972	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs568445219	chr2:100975991-100975992	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs185128517	chr2:100980219-100980220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190075996	chr2:100980225-100980226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373572189	chr2:100980242-100980243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531178097	chr2:100980251-100980252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10204833	chr2:100980281-100980282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568248769	chr2:100980306-100980307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192709703	chr2:100980307-100980308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144150065	chr2:100980326-100980327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4851310	chr2:100980337-100980338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144510635	chr2:100980348-100980349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374640667	chr2:100980359-100980360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558599898	chr2:100980362-100980363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569365138	chr2:100980393-100980394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4851311	chr2:100980398-100980399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554990855	chr2:100980420-100980421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75132067	chr2:100980429-100980430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116443341	chr2:100980433-100980434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540879816	chr2:100980467-100980468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183861598	chr2:100980514-100980515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577476860	chr2:100980519-100980520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539488401	chr2:100980520-100980521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4640404	chr2:100980523-100980524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188291244	chr2:100980526-100980527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531469478	chr2:100980527-100980528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117037764	chr2:100980532-100980533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180763867	chr2:100980541-100980542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561769224	chr2:100980576-100980577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527300846	chr2:100980595-100980596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147415298	chr2:100980605-100980606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570435351	chr2:100980613-100980614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6750866	chr2:100980622-100980623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549986096	chr2:100980644-100980645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142885530	chr2:100980655-100980656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538384945	chr2:100980679-100980680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4378827	chr2:100980682-100980683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568400059	chr2:100980711-100980712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7599486	chr2:100980774-100980775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575247852	chr2:100980783-100980784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149761196	chr2:100980852-100980853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577637849	chr2:100980903-100980904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546403118	chr2:100980933-100980934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6542939	chr2:100980973-100980974	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374183331	chr2:100980983-100980984	Enhancers	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
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100975800-100976000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:100980200-100982400	Enhancers	Hela-S3	cervix
3	chr2:100981000-100982400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:100981200-100981600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:100981200-100982200	Enhancers	Adipose Nuclei	Adipose
6	chr2:100981200-100982400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:100981400-100982600	Enhancers	HMEC	breast
8	chr2:100981400-100982600	Enhancers	NHEK	skin
9	chr2:100981600-100981800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:100981800-100982000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:100981800-100982200	Enhancers	Fetal Muscle Leg	muscle
12	chr2:100982000-100982200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:100982000-100982200	Enhancers	A549	lung
14	chr2:100982000-100982400	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:100982000-100982400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:100982000-100982400	Enhancers	Osteobl	bone
17	chr2:100982000-100983200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:100982200-100982600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:100983000-100983200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:100983000-100983200	Enhancers	Fetal Thymus	thymus
21	chr2:100983000-100984600	Enhancers	Dnd41	blood
22	chr2:100983000-100984800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:100983400-100984400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:100983400-100985200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:100983600-100984000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:100983600-100984200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:100983600-100984800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:100983600-100985200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:100983600-100986200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:100983800-100984000	Enhancers	Fetal Thymus	thymus
31	chr2:100983800-100984600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:100983800-100985600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:100984400-100985000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:100984400-100985000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:100984600-100985200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:100985200-100985600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr2:100985200-100985800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:100985600-100985800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:100985800-100986200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:100985800-100987000	Enhancers	HUES48 Cell Line	embryonic stem cell

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