Variant report

Variant	nsv10807
Chromosome Location	chr6:29498328-29501339
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:3)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29232193..29235031-chr6:29499075..29500659,2	K562	blood:
2	chr6:29483683..29485672-chr6:29497592..29500057,2	K562	blood:
3	chr6:29498758..29502303-chr6:29502366..29506492,4	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR2H2-2	chr6:29498829-29501345	NONHSAT108525
2	lnc-OR2H2-2	chr6:29498829-29498945	NONHSAT108527
3	lnc-OR2H2-2	chr6:29499857-29501345	NONHSAT108527
4	lnc-OR2H2-2	chr6:29498829-29499181	NONHSAT108528
5	lnc-OR2H2-2	chr6:29499857-29499934	ENSG00000224582.1
6	lnc-OR2H2-2	chr6:29498829-29501345	NONHSAT108526
7	lnc-OR2H2-2	chr6:29498829-29501345	ENSG00000224582.1
8	lnc-OR2H2-2	chr6:29498829-29498945	ENSG00000224582.1

No data

Extended variants
information (count: 124 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184027680	chr6:29498346-29498347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376232998	chr6:29498378-29498379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188476965	chr6:29498413-29498414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374394437	chr6:29498415-29498416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546239646	chr6:29498419-29498420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6908631	chr6:29498423-29498424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559135610	chr6:29498434-29498435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551613954	chr6:29498464-29498465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571382904	chr6:29498484-29498485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536866416	chr6:29498485-29498486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556788577	chr6:29498486-29498487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1233425	chr6:29498497-29498498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs368054858	chr6:29498517-29498518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552928741	chr6:29498528-29498529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572777735	chr6:29498541-29498542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545072306	chr6:29498615-29498616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564844178	chr6:29498620-29498621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149160601	chr6:29498664-29498665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544034170	chr6:29498671-29498672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373652574	chr6:29498684-29498685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143310287	chr6:29498703-29498704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151299205	chr6:29498762-29498763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559679971	chr6:29498810-29498811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563262931	chr6:29498816-29498817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528513563	chr6:29498878-29498879	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs551821634	chr6:29498903-29498904	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs3025673	chr6:29498975-29498976	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530576345	chr6:29499111-29499112	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs368726319	chr6:29499120-29499121	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs192095061	chr6:29499131-29499132	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs184231696	chr6:29499138-29499139	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs188562439	chr6:29499173-29499174	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs141752127	chr6:29499179-29499180	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs538278139	chr6:29499193-29499194	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs558576925	chr6:29499202-29499203	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs372352811	chr6:29499206-29499207	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs544365113	chr6:29499215-29499216	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs1233423	chr6:29499301-29499302	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369219409	chr6:29499345-29499346	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs574315248	chr6:29499386-29499387	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs362546	chr6:29499416-29499417	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs909968	chr6:29499505-29499506	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs528462218	chr6:29499506-29499507	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs368817346	chr6:29499529-29499530	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs191435119	chr6:29499534-29499535	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs909967	chr6:29499537-29499538	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs147103170	chr6:29499562-29499563	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs530892933	chr6:29499575-29499576	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs376424527	chr6:29499620-29499621	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs567114646	chr6:29499621-29499622	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29497000-29515000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:29497200-29499000	Weak transcription	Pancreas	Pancrea
3	chr6:29498800-29499400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:29498800-29500000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:29498800-29500200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:29499000-29499400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:29499000-29499600	Enhancers	Pancreas	Pancrea
8	chr6:29499000-29499600	Enhancers	NHEK	skin

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