Variant report

Variant	nsv970095
Chromosome Location	chr6:28699436-28700534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr6:28699819-28700176	PFSK-1	brain:	n/a	n/a
2	REST	chr6:28699874-28700187	Hela-S3	cervix:	n/a	n/a
3	REST	chr6:28699874-28700210	K562	blood:	n/a	n/a
4	REST	chr6:28699892-28700163	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr6:28699899-28700101	Hela-S3	cervix:	n/a	n/a
6	REST	chr6:28699875-28700146	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr6:28699962-28700168	PFSK-1	brain:	n/a	n/a
8	REST	chr6:28699848-28700105	SK-N-SH	brain:	n/a	n/a
9	REST	chr6:28699803-28700220	PFSK-1	brain:	n/a	n/a
10	REST	chr6:28699923-28700127	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:28666298..28671313-chr6:28695437..28699521,5	K562	blood:
2	chr6:27112544..27115290-chr6:28699620..28702018,2	K562	blood:
3	chr6:28700497..28703412-chr6:28724677..28728589,3	K562	blood:
4	chr6:28697655..28699447-chr6:28898332..28901038,2	K562	blood:

No data

Variant related genes	Relation type
RPSAP2	TF binding region
ENSG00000197903	chromatin interactions
ENSG00000184825	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116612059	chr6:28699440-28699441	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572638014	chr6:28699464-28699465	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540764423	chr6:28699468-28699469	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144759047	chr6:28699512-28699513	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577185627	chr6:28699558-28699559	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186981868	chr6:28699608-28699609	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562974031	chr6:28699615-28699616	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529138083	chr6:28699619-28699620	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10498733	chr6:28699691-28699692	Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559281437	chr6:28699697-28699698	Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs371731203	chr6:28699768-28699769	Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191805365	chr6:28699807-28699808	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs182143978	chr6:28699823-28699824	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539812140	chr6:28699832-28699833	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs138684538	chr6:28699836-28699837	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs140371313	chr6:28699848-28699849	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs536145972	chr6:28699854-28699855	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs573303475	chr6:28699869-28699870	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs143609442	chr6:28699935-28699936	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535237211	chr6:28699951-28699952	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs148071727	chr6:28699974-28699975	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs577297568	chr6:28699982-28699983	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141839364	chr6:28700017-28700018	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs150622746	chr6:28700039-28700040	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs561292642	chr6:28700062-28700063	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542513085	chr6:28700075-28700076	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs9257110	chr6:28700089-28700090	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528236075	chr6:28700108-28700109	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551574155	chr6:28700109-28700110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564957676	chr6:28700141-28700142	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs1936180	chr6:28700147-28700148	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143127536	chr6:28700149-28700150	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs372908058	chr6:28700159-28700160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs570061951	chr6:28700186-28700187	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs7760656	chr6:28700197-28700198	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114049836	chr6:28700200-28700201	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs566385547	chr6:28700206-28700207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563575387	chr6:28700241-28700242	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs535037260	chr6:28700244-28700245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs558315234	chr6:28700256-28700257	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs114701680	chr6:28700285-28700286	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs538882318	chr6:28700331-28700332	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs556643619	chr6:28700346-28700347	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs6456834	chr6:28700352-28700353	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs148584123	chr6:28700457-28700458	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs9257111	chr6:28700500-28700501	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573068997	chr6:28700521-28700522	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28698000-28701600	Enhancers	K562	blood
2	chr6:28698000-28701800	Weak transcription	HMEC	breast
3	chr6:28698400-28703000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:28699200-28699800	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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