Variant report

Variant	nsv1005292
Chromosome Location	chr2:209470753-209631662
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:31)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209539963..209542308-chr2:209551023..209553001,2	K562	blood:
2	chr2:209566175..209569038-chr2:209578092..209580670,2	K562	blood:
3	chr2:209530769..209533042-chr2:209534899..209536830,2	K562	blood:
4	chr2:209491119..209493117-chr2:209495604..209497671,2	MCF-7	breast:
5	chr2:209339603..209341733-chr2:209501873..209504107,2	MCF-7	breast:
6	chr2:209566175..209569038-chr2:209578092..209580670,2	K562	blood:
7	chr2:209522358..209523062-chr2:209647609..209648423,2	MCF-7	breast:
8	chr2:209492337..209494303-chr2:209506162..209509003,2	K562	blood:
9	chr2:209494353..209497016-chr2:209504325..209506664,2	K562	blood:
10	chr2:209492337..209494303-chr2:209506162..209509003,2	K562	blood:
11	chr2:209494353..209497016-chr2:209504325..209506664,2	K562	blood:
12	chr2:209491119..209493117-chr2:209495604..209497671,2	MCF-7	breast:
13	chr2:209500439..209502356-chr2:209506551..209509488,2	K562	blood:
14	chr2:209466529..209468922-chr2:209469771..209474091,3	K562	blood:
15	chr2:209466264..209468126-chr2:209469742..209471271,2	K562	blood:
16	chr2:209479934..209482294-chr2:209490588..209493253,2	K562	blood:
17	chr2:209514239..209516812-chr2:209521942..209523618,2	K562	blood:
18	chr2:209572295..209574626-chr2:209585483..209587348,2	K562	blood:
19	chr2:209531542..209533754-chr2:209534899..209537562,2	K562	blood:
20	chr2:209479934..209482294-chr2:209490588..209493253,2	K562	blood:
21	chr2:209539963..209542308-chr2:209551023..209553001,2	K562	blood:
22	chr2:209500439..209502356-chr2:209506551..209509488,2	K562	blood:
23	chr2:209492449..209494054-chr2:209496864..209499184,3	K562	blood:
24	chr2:209494353..209498041-chr2:209504325..209506664,3	K562	blood:
25	chr2:209572295..209574626-chr2:209585483..209587348,2	K562	blood:
26	chr2:209494353..209498041-chr2:209504325..209506664,3	K562	blood:
27	chr2:209531542..209533754-chr2:209534899..209537562,2	K562	blood:
28	chr2:209514239..209516812-chr2:209521942..209523618,2	K562	blood:
29	chr2:209530769..209533042-chr2:209534899..209536830,2	K562	blood:
30	chr2:209521522..209522845-chr2:210072588..210073484,4	MCF-7	breast:
31	chr2:209492449..209494054-chr2:209496864..209499184,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTH2R-1	chr2:209506966-209507101	NONHSAT076648
2	lnc-PTH2R-1	chr2:209521550-209521713	NONHSAT076646
3	lnc-PTH2R-1	chr2:209521550-209521713	NONHSAT076645
4	lnc-PTH2R-1	chr2:209521550-209521713	NONHSAT076647
5	lnc-PTH2R-1	chr2:209521550-209521713	NONHSAT076648

No data

Extended variants
information (count: 2212 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2212 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565836068	chr2:209470753-209470754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182349963	chr2:209470790-209470791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187658124	chr2:209470794-209470795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577067553	chr2:209470808-209470809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10198932	chr2:209470820-209470821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373071501	chr2:209470837-209470838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568891909	chr2:209470863-209470864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556308689	chr2:209470864-209470865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192634907	chr2:209470890-209470891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542068795	chr2:209470915-209470916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368484779	chr2:209470933-209470934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561725290	chr2:209470936-209470937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558359935	chr2:209470938-209470939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531420231	chr2:209470944-209470945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184755633	chr2:209470968-209470969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541024750	chr2:209470991-209470992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563954209	chr2:209471016-209471017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569513474	chr2:209471019-209471020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533659563	chr2:209471024-209471025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543721159	chr2:209471056-209471057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1429885	chr2:209471061-209471062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140830237	chr2:209471064-209471065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570290072	chr2:209471071-209471072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549177285	chr2:209471072-209471073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565827872	chr2:209471078-209471079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558547697	chr2:209471080-209471081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72985950	chr2:209471089-209471090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73984017	chr2:209471101-209471102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141658840	chr2:209471106-209471107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193167177	chr2:209471162-209471163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1835303	chr2:209471211-209471212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569937975	chr2:209471212-209471213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184728479	chr2:209471216-209471217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34828224	chr2:209471265-209471266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555645255	chr2:209471281-209471282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73984018	chr2:209471302-209471303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541161588	chr2:209471354-209471355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150565464	chr2:209471375-209471376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115809209	chr2:209471381-209471382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371705863	chr2:209471493-209471494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543406691	chr2:209471515-209471516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563786320	chr2:209471525-209471526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13420044	chr2:209471568-209471569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73984019	chr2:209471582-209471583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs34212820	chr2:209471603-209471604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559551701	chr2:209471607-209471608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190041309	chr2:209471636-209471637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180792849	chr2:209471640-209471641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551551228	chr2:209471651-209471652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571735770	chr2:209471666-209471667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209469600-209473200	Weak transcription	Fetal Brain Male	brain
2	chr2:209472600-209473600	Enhancers	K562	blood
3	chr2:209473200-209473600	Enhancers	Fetal Brain Male	brain
4	chr2:209473200-209473600	Enhancers	Fetal Brain Female	brain
5	chr2:209473200-209473800	Enhancers	Stomach Mucosa	stomach
6	chr2:209473400-209474400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:209473600-209473800	Flanking Active TSS	K562	blood
8	chr2:209473800-209474400	Enhancers	Fetal Heart	heart
9	chr2:209473800-209474400	Enhancers	K562	blood
10	chr2:209474000-209474400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:209474400-209479600	Weak transcription	K562	blood
12	chr2:209474400-209480200	Weak transcription	Fetal Heart	heart
13	chr2:209479600-209479800	Enhancers	K562	blood
14	chr2:209479800-209480200	Weak transcription	K562	blood
15	chr2:209480200-209480400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:209480200-209480800	Enhancers	Fetal Heart	heart
17	chr2:209480200-209481200	Active TSS	K562	blood
18	chr2:209480400-209481000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:209480800-209482400	Weak transcription	Fetal Heart	heart
20	chr2:209481200-209482400	Weak transcription	K562	blood
21	chr2:209482400-209485400	Enhancers	Fetal Heart	heart
22	chr2:209482400-209485600	Enhancers	K562	blood
23	chr2:209484200-209485000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:209484400-209485000	Enhancers	Pancreas	Pancrea
25	chr2:209491400-209493000	Enhancers	K562	blood
26	chr2:209491800-209493600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:209492400-209494200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:209492600-209493800	Enhancers	Fetal Heart	heart
29	chr2:209493000-209493800	Weak transcription	K562	blood
30	chr2:209493800-209494600	Enhancers	K562	blood
31	chr2:209494200-209494600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:209494600-209495000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:209494600-209502400	Weak transcription	K562	blood
34	chr2:209494800-209495000	Enhancers	Fetal Kidney	kidney
35	chr2:209495000-209512800	Weak transcription	Fetal Kidney	kidney
36	chr2:209502400-209503400	Enhancers	K562	blood
37	chr2:209502800-209503600	Enhancers	Fetal Intestine Large	intestine
38	chr2:209503000-209503400	Enhancers	Fetal Intestine Small	intestine
39	chr2:209503400-209510000	Weak transcription	K562	blood
40	chr2:209508400-209509200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:209508800-209512600	Weak transcription	Fetal Heart	heart
42	chr2:209509000-209509400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:209509200-209510600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:209510600-209511800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:209512000-209512200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:209512600-209515000	Enhancers	Fetal Heart	heart
47	chr2:209512800-209513400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr2:209512800-209513600	Enhancers	Fetal Kidney	kidney
49	chr2:209535200-209535600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:209535600-209536000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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