Variant report

Variant	nsv581168
Chromosome Location	chr2:21086693-21135577
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20860953..20861741-chr2:21116076..21116752,2	MCF-7	breast:
2	chr2:20981197..20982064-chr2:21116140..21116928,2	MCF-7	breast:
3	chr2:21093266..21095709-chr2:21096877..21098567,2	K562	blood:
4	chr2:21093266..21095709-chr2:21096877..21098567,2	K562	blood:
5	chr2:21112582..21115455-chr2:21178782..21180525,2	MCF-7	breast:
6	chr2:21134659..21137623-chr2:21141359..21143238,2	K562	blood:
7	chr2:20861362..20862185-chr2:21115914..21116621,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC010872.2.1-7	chr2:21121295-21121987	l_1788_chr2:21120691-21121987_liver
2	lnc-AC010872.2.1-7	chr2:21120692-21120994	l_1788_chr2:21120691-21121987_liver

No data

Extended variants
information (count: 1155 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1155 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546444536	chr2:21096803-21096804	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs545496855	chr2:21096830-21096831	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs140224807	chr2:21096875-21096876	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs190793052	chr2:21096891-21096892	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs116409214	chr2:21096925-21096926	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs561374219	chr2:21096942-21096943	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs528081575	chr2:21096959-21096960	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs530323212	chr2:21096963-21096964	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs150035236	chr2:21096976-21096977	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs560301559	chr2:21096983-21096984	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs140477139	chr2:21097828-21097829	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs112225426	chr2:21097855-21097856	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs569289945	chr2:21097895-21097896	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs568027119	chr2:21097900-21097901	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs538319309	chr2:21097924-21097925	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs554696247	chr2:21097928-21097929	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs118080987	chr2:21097929-21097930	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs534239330	chr2:21097936-21097937	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs554006072	chr2:21097953-21097954	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs55775005	chr2:21097954-21097955	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs542060934	chr2:21097961-21097962	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs6727365	chr2:21097962-21097963	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs573379338	chr2:21098020-21098021	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs138382126	chr2:21098074-21098075	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs182937949	chr2:21098084-21098085	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs576091624	chr2:21098153-21098154	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs79652052	chr2:21098166-21098167	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs561682856	chr2:21098175-21098176	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs148112169	chr2:21098181-21098182	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs547715513	chr2:21098212-21098213	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs564417804	chr2:21098243-21098244	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs10168701	chr2:21098248-21098249	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs552879256	chr2:21098280-21098281	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs569808427	chr2:21098285-21098286	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs187798929	chr2:21098298-21098299	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs548245235	chr2:21098310-21098311	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs141911683	chr2:21098322-21098323	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs74342617	chr2:21099413-21099414	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs73226544	chr2:21099440-21099441	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549903368	chr2:21099441-21099442	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs570365089	chr2:21099458-21099459	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs73921318	chr2:21099471-21099472	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs536137804	chr2:21099541-21099542	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs549623479	chr2:21099544-21099545	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs184333365	chr2:21099576-21099577	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs56243455	chr2:21099584-21099585	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs188984094	chr2:21099587-21099588	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs557796714	chr2:21099588-21099589	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs181707417	chr2:21099600-21099601	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs529809701	chr2:21100063-21100064	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21096800-21097000	Bivalent Enhancer	HepG2	liver
2	chr2:21097800-21098400	Bivalent Enhancer	HepG2	liver
3	chr2:21099400-21099600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:21100000-21100600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:21111000-21111200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:21111000-21112200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:21111800-21112800	Enhancers	Esophagus	oesophagus
8	chr2:21112000-21112200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:21112000-21113400	Enhancers	NHEK	skin
10	chr2:21112000-21114800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:21112200-21112400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:21112200-21113000	Enhancers	Fetal Thymus	thymus
13	chr2:21112200-21113200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:21112200-21113200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:21112200-21113200	Enhancers	HMEC	breast
16	chr2:21112200-21113400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:21112400-21112600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:21112400-21115200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:21112600-21112800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:21112800-21114400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:21112800-21116000	Weak transcription	Esophagus	oesophagus
22	chr2:21113000-21113200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr2:21113200-21116600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:21113200-21116600	Weak transcription	HMEC	breast
25	chr2:21113400-21115400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:21113400-21116200	Weak transcription	NHEK	skin
27	chr2:21113800-21114000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr2:21114000-21114200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:21114000-21114400	Enhancers	Pancreas	Pancrea
30	chr2:21114200-21127800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:21114400-21114800	Weak transcription	Pancreas	Pancrea
32	chr2:21114400-21115400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:21114800-21115000	Enhancers	Pancreas	Pancrea
34	chr2:21114800-21115200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:21114800-21115200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:21115000-21116600	Weak transcription	Pancreas	Pancrea
37	chr2:21115200-21115400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:21115200-21116000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:21115200-21120000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:21115400-21115600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr2:21115400-21117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:21115400-21118000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:21115400-21119800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:21115400-21120200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:21116000-21116200	Enhancers	Esophagus	oesophagus
46	chr2:21116200-21116600	Weak transcription	Esophagus	oesophagus
47	chr2:21116200-21118600	Enhancers	NHLF	lung
48	chr2:21116200-21118800	Enhancers	NHEK	skin
49	chr2:21116400-21116800	Flanking Active TSS	HepG2	liver
50	chr2:21116400-21117000	Enhancers	Osteobl	bone

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