Variant report

Variant	nsv946008
Chromosome Location	chr1:78757971-78762936
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:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:78756962..78758970-chr1:78761464..78764446,2	K562	blood:
2	chr1:78756962..78758970-chr1:78761464..78764446,2	K562	blood:
3	chr1:78756879..78758462-chr1:78761464..78763088,2	K562	blood:
4	chr1:78756879..78758462-chr1:78761464..78763088,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTGFR-1	chr1:78758164-78758315	XLOC_000264
2	lnc-PTGFR-1	chr1:78759275-78759574	XLOC_000264
3	lnc-PTGFR-1	chr1:78758164-78758219	XLOC_000264
4	lnc-PTGFR-1	chr1:78758164-78758219	XLOC_000264
5	lnc-PTGFR-1	chr1:78758763-78758961	XLOC_000264

No data

Variant related genes	Relation type
MCMBP	miRNA target sites
MCOLN2	miRNA target sites

Extended variants
information (count: 186 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552690501	chr1:78758010-78758011	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114721460	chr1:78758040-78758041	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186282430	chr1:78758044-78758045	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557123339	chr1:78758071-78758072	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147393209	chr1:78758073-78758074	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543950866	chr1:78758106-78758107	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550415657	chr1:78758108-78758109	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562199804	chr1:78758121-78758122	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574162630	chr1:78758126-78758127	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55688547	chr1:78758127-78758128	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191527335	chr1:78758149-78758150	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10873971	chr1:78758160-78758161	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs56027754	chr1:78758174-78758175	Enhancers Flanking Active TSS Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183418526	chr1:78758179-78758180	Enhancers Flanking Active TSS Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs58915184	chr1:78758263-78758264	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs139690210	chr1:78758281-78758282	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs143698606	chr1:78758290-78758291	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs373452087	chr1:78758292-78758293	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs144128381	chr1:78758308-78758309	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs148697651	chr1:78758310-78758311	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs374674339	chr1:78758316-78758317	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528164536	chr1:78758345-78758346	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111603889	chr1:78758358-78758359	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564742412	chr1:78758368-78758369	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578254454	chr1:78758376-78758377	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151153233	chr1:78758394-78758395	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557526729	chr1:78758410-78758411	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs188815602	chr1:78758480-78758481	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569159813	chr1:78758502-78758503	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs544130853	chr1:78758528-78758529	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs566575650	chr1:78758535-78758536	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs12743197	chr1:78758569-78758570	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs536480670	chr1:78758631-78758632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535947376	chr1:78758657-78758658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369597410	chr1:78758666-78758667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554804685	chr1:78758667-78758668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574188990	chr1:78758668-78758669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541117706	chr1:78758752-78758753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75344659	chr1:78758774-78758775	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs139153040	chr1:78758788-78758789	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs549537659	chr1:78758847-78758848	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs545369395	chr1:78758867-78758868	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs563666547	chr1:78758885-78758886	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs569233957	chr1:78758891-78758892	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs144043815	chr1:78758997-78758998	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs376981145	chr1:78759010-78759011	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs191823359	chr1:78759036-78759037	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs561106340	chr1:78759058-78759059	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs528194437	chr1:78759089-78759090	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs546352295	chr1:78759117-78759118	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78751400-78758200	Weak transcription	Liver	Liver
2	chr1:78752800-78758000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:78752800-78758000	Weak transcription	Osteobl	bone
4	chr1:78753000-78768800	Weak transcription	NHLF	lung
5	chr1:78753200-78758000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:78754400-78759000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:78755400-78758000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:78757200-78758600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:78757200-78758600	Enhancers	HSMMtube	muscle
10	chr1:78757400-78758000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:78757600-78758400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:78757600-78758400	Enhancers	Fetal Muscle Leg	muscle
13	chr1:78757800-78758200	Flanking Active TSS	NHDF-Ad	bronchial
14	chr1:78757800-78758400	Enhancers	HSMM	muscle
15	chr1:78758000-78758200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:78758000-78758200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:78758000-78758400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:78758000-78758400	Enhancers	Osteobl	bone
19	chr1:78758200-78758400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:78758200-78758400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:78758200-78758400	Enhancers	Pancreas	Pancrea
22	chr1:78758200-78758600	ZNF genes & repeats	Liver	Liver
23	chr1:78758200-78759000	Enhancers	NHDF-Ad	bronchial
24	chr1:78758400-78758800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:78758400-78759000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:78758400-78759000	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:78758400-78768800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:78758400-78769400	Weak transcription	Pancreas	Pancrea
29	chr1:78758600-78759400	Weak transcription	Liver	Liver
30	chr1:78758800-78761800	Active TSS	Fetal Muscle Trunk	muscle
31	chr1:78759000-78761800	Active TSS	Fetal Muscle Leg	muscle
32	chr1:78759000-78767200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:78759000-78767800	Weak transcription	NHDF-Ad	bronchial
34	chr1:78759000-78768800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:78761800-78763600	Weak transcription	Fetal Muscle Leg	muscle

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