Variant report

Variant	nsv961927
Chromosome Location	chr2:209079297-209087267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IDH1-1	chr2:209086886-209087349	NONHSAT076633
2	lnc-IDH1-1	chr2:209079448-209079486	NONHSAT076633

Variant related genes	Relation type
PAPOLA	miRNA target sites
DIAPH1	miRNA target sites

Extended variants
information (count: 435 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546892163	chr2:209079300-209079301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148230118	chr2:209079322-209079323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111550674	chr2:209079361-209079362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532574888	chr2:209079424-209079425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112330732	chr2:209079462-209079463	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs559801004	chr2:209079472-209079473	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs77128668	chr2:209079488-209079489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113134912	chr2:209079496-209079497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528552082	chr2:209079500-209079501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540842539	chr2:209079511-209079512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563924296	chr2:209079520-209079521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182199449	chr2:209079544-209079545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375523710	chr2:209079545-209079546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187213032	chr2:209079562-209079563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141616313	chr2:209079596-209079597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569561294	chr2:209079632-209079633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548651682	chr2:209079643-209079644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565788269	chr2:209079645-209079646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534383373	chr2:209079652-209079653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552035732	chr2:209079656-209079657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571847283	chr2:209079688-209079689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527940211	chr2:209079689-209079690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537787311	chr2:209079718-209079719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557677111	chr2:209079726-209079727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547589860	chr2:209079729-209079730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574209806	chr2:209079749-209079750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536673478	chr2:209079750-209079751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76650484	chr2:209079758-209079759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548556981	chr2:209079773-209079774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190496850	chr2:209079810-209079811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79831049	chr2:209079825-209079826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200946582	chr2:209079837-209079838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577407123	chr2:209079851-209079852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534253420	chr2:209079866-209079867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78984633	chr2:209079883-209079884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568543176	chr2:209079887-209079888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111510159	chr2:209079888-209079889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62193575	chr2:209079909-209079910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112288780	chr2:209079911-209079912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112478786	chr2:209079946-209079947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559068528	chr2:209079974-209079975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113513286	chr2:209079976-209079977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541643926	chr2:209079986-209079987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373977260	chr2:209079994-209079995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146251978	chr2:209079998-209079999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551497820	chr2:209080040-209080041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112647362	chr2:209080057-209080058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571908282	chr2:209080058-209080059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34029171	chr2:209080083-209080084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554028334	chr2:209080092-209080093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
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
Glioblastoma	21080181	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
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209062600-209080000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:209078800-209080000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:209078800-209080200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:209079000-209080200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:209079000-209080600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:209079200-209080200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:209080000-209080400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:209080000-209080400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:209080200-209080800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:209080200-209081400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:209080200-209081600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:209080600-209080800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:209080600-209080800	Enhancers	K562	blood
14	chr2:209080600-209081200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:209081000-209084000	Weak transcription	K562	blood
16	chr2:209084000-209084200	Enhancers	K562	blood
17	chr2:209084200-209086800	Weak transcription	K562	blood
18	chr2:209086600-209087600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:209086800-209087400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:209086800-209087600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:209086800-209087600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:209086800-209087600	Enhancers	K562	blood
23	chr2:209086800-209087600	Enhancers	NHEK	skin
24	chr2:209086800-209088200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:209086800-209088200	Enhancers	HMEC	breast
26	chr2:209087000-209087400	Enhancers	HSMM	muscle
27	chr2:209087000-209087600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:209087000-209087600	Enhancers	Osteobl	bone
29	chr2:209087000-209087800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:209087200-209087600	Enhancers	NH-A	brain

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