Variant report

Variant	nsv875760
Chromosome Location	chr2:209817526-209929978
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:4)
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	chr2:209923719..209926042-chr2:209927287..209929588,2	K562	blood:
2	chr2:209801606..209803853-chr2:209820902..209823533,2	MCF-7	breast:
3	chr2:209852263..209854117-chr2:209855293..209858192,2	K562	blood:
4	chr2:209812335..209815569-chr2:209817541..209819939,3	K562	blood:
5	chr2:209878244..209880957-chr2:209882078..209884649,2	MCF-7	breast:
6	chr2:209878244..209880957-chr2:209882078..209884649,2	MCF-7	breast:
7	chr2:209911421..209913579-chr2:209913671..209915928,2	MCF-7	breast:
8	chr2:209852263..209854117-chr2:209855293..209858192,2	K562	blood:
9	chr2:209923719..209926042-chr2:209927287..209929588,2	K562	blood:
10	chr2:209911421..209913579-chr2:209913671..209915928,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTH2R-2	chr2:209894597-209894764	l_2022_chr2:209894596-209898538_76bGuttman_hES
2	lnc-IDH1-4	chr2:209914528-209914662	NONHSAT076653
3	lnc-PTH2R-2	chr2:209896369-209898538	l_2022_chr2:209894596-209898538_76bGuttman_hES
4	lnc-IDH1-4	chr2:209907730-209907770	NONHSAT076653

No data

Extended variants
information (count: 1271 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1271 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17667172	chr2:209817526-209817527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538030277	chr2:209817570-209817571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375399765	chr2:209817601-209817602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201272534	chr2:209817658-209817659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199748112	chr2:209817660-209817661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61071727	chr2:209817670-209817671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532225111	chr2:209817683-209817684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190826348	chr2:209817694-209817695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59966701	chr2:209817727-209817728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386654624	chr2:209817732-209817733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58367035	chr2:209817733-209817734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16842052	chr2:209817739-209817740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548495620	chr2:209817752-209817753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16842053	chr2:209817783-209817784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534142406	chr2:209817798-209817799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534241452	chr2:209817822-209817823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547963323	chr2:209817841-209817842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146490337	chr2:209817867-209817868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140992235	chr2:209817921-209817922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183872682	chr2:209817959-209817960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3851942	chr2:209817962-209817963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs60969185	chr2:209818011-209818012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397818905	chr2:209818021-209818022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79050127	chr2:209818022-209818023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202016118	chr2:209818023-209818024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111296623	chr2:209818040-209818041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373579945	chr2:209818041-209818042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554569689	chr2:209818048-209818049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10166520	chr2:209818049-209818050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs35251783	chr2:209818055-209818056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553910750	chr2:209818061-209818062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576563536	chr2:209818068-209818069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35626609	chr2:209818126-209818127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545510783	chr2:209818155-209818156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149572606	chr2:209818166-209818167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143241673	chr2:209818171-209818172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148287319	chr2:209818251-209818252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57831067	chr2:209818256-209818257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527987520	chr2:209818257-209818258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188874730	chr2:209818268-209818269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558927849	chr2:209818292-209818293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80010104	chr2:209818293-209818294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12464172	chr2:209818294-209818295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537888243	chr2:209818352-209818353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115359490	chr2:209818363-209818364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4109419	chr2:209818396-209818397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568677605	chr2:209842819-209842820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13391279	chr2:209842842-209842843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs143803857	chr2:209842843-209842844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567974145	chr2:209842857-209842858	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209811600-209818400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:209842800-209843000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:209843000-209853600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:209843800-209844200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:209843800-209844200	Enhancers	NHEK	skin
6	chr2:209844200-209847000	Weak transcription	NHEK	skin
7	chr2:209844200-209848600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:209847000-209850000	Enhancers	NHEK	skin
9	chr2:209847200-209848000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr2:209847200-209848000	Enhancers	HMEC	breast
11	chr2:209847200-209849800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:209847800-209848000	Enhancers	Placenta	Placenta
13	chr2:209847800-209849800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:209848000-209849000	Weak transcription	Placenta	Placenta
15	chr2:209848000-209849000	Weak transcription	HMEC	breast
16	chr2:209848000-209851000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:209848600-209850200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:209849000-209849800	Enhancers	Placenta	Placenta
19	chr2:209849000-209849800	Enhancers	HMEC	breast
20	chr2:209849000-209850600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:209849200-209849400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:209849200-209849800	Enhancers	Pancreas	Pancrea
23	chr2:209849600-209850000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:209849600-209850000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:209849800-209853600	Weak transcription	Pancreas	Pancrea
26	chr2:209850000-209850800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:209850400-209850800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:209851000-209851200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:209851200-209856800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:209853600-209853800	Enhancers	Pancreas	Pancrea
31	chr2:209853600-209854000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:209853600-209854000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:209853600-209854200	Enhancers	Fetal Brain Male	brain
34	chr2:209853800-209854800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:209853800-209855000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:209854200-209855800	Weak transcription	Fetal Brain Male	brain
37	chr2:209855800-209856200	Enhancers	Fetal Brain Male	brain
38	chr2:209863400-209866000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr2:209864400-209864600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:209864400-209865200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:209864600-209865000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:209865000-209865200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:209865200-209866000	Enhancers	Fetal Brain Male	brain
44	chr2:209865200-209868800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:209866000-209868400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:209868400-209869200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr2:209868800-209869200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:209869200-209870200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:209870200-209871000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr2:209871000-209871400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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