Variant report

Variant	nsv1466
Chromosome Location	chr1:76280957-76299478
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:76277185..76279387-chr1:76282606..76285233,2	K562	blood:
2	chr1:76263795..76266043-chr1:76279563..76282282,3	K562	blood:
3	chr1:76280713..76282619-chr1:76284272..76285904,2	K562	blood:
4	chr1:76187328..76189918-chr1:76280301..76282636,2	K562	blood:
5	chr1:76275487..76277176-chr1:76281868..76284838,2	K562	blood:
6	chr1:76257881..76260713-chr1:76287046..76289517,2	K562	blood:
7	chr1:76277873..76279387-chr1:76283733..76285650,2	K562	blood:
8	chr1:76280713..76282619-chr1:76284272..76285904,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178193	chromatin interactions
ENSG00000137955	chromatin interactions

Extended variants
information (count: 767 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184734963	chr1:76281001-76281002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs5745374	chr1:76281020-76281021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372417538	chr1:76281023-76281024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530387071	chr1:76281045-76281046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547193002	chr1:76281051-76281052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565443590	chr1:76281058-76281059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs60601473	chr1:76281094-76281095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs5745375	chr1:76281158-76281159	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551271263	chr1:76281163-76281164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569317514	chr1:76281198-76281199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536638031	chr1:76281367-76281368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548246401	chr1:76281394-76281395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566961114	chr1:76281412-76281413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147507258	chr1:76281538-76281539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1144340	chr1:76281590-76281591	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs577402842	chr1:76281651-76281652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189112419	chr1:76281754-76281755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181496527	chr1:76281815-76281816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574936169	chr1:76281851-76281852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542619377	chr1:76281861-76281862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560692946	chr1:76281874-76281875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs5745376	chr1:76281884-76281885	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556902744	chr1:76281997-76281998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372643929	chr1:76282021-76282022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370426879	chr1:76282044-76282045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140131641	chr1:76282077-76282078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144767182	chr1:76282120-76282121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143902879	chr1:76282122-76282123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142299451	chr1:76282145-76282146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs80063722	chr1:76282167-76282168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551334702	chr1:76282200-76282201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139179365	chr1:76282216-76282217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75777098	chr1:76282266-76282267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201054535	chr1:76282267-76282268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372776529	chr1:76282271-76282272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548588482	chr1:76282304-76282305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs142725811	chr1:76282335-76282336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs5745377	chr1:76282361-76282362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs184868198	chr1:76282390-76282391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545741191	chr1:76282443-76282444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559603368	chr1:76282445-76282446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571155620	chr1:76282447-76282448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538438934	chr1:76282496-76282497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373309048	chr1:76282502-76282503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556698798	chr1:76282527-76282528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs5745378	chr1:76282533-76282534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189975629	chr1:76282567-76282568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536122538	chr1:76282592-76282593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs5745379	chr1:76282630-76282631	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572728725	chr1:76282656-76282657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76262400-76282800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:76262600-76288800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:76262600-76294600	Weak transcription	Primary B cells from cord blood	blood
4	chr1:76263000-76287400	Weak transcription	Aorta	Aorta
5	chr1:76263000-76289000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:76263000-76296200	Weak transcription	Ovary	ovary
7	chr1:76263400-76289000	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:76263600-76284000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:76264200-76291400	Weak transcription	Psoas Muscle	Psoas
10	chr1:76264600-76288600	Weak transcription	Left Ventricle	heart
11	chr1:76264800-76288600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:76264800-76288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:76279600-76288600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:76282200-76295200	Weak transcription	Right Ventricle	heart
15	chr1:76287200-76289000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:76287400-76287600	ZNF genes & repeats	Aorta	Aorta
17	chr1:76287400-76290000	Weak transcription	HSMMtube	muscle
18	chr1:76288600-76289000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
19	chr1:76288600-76289200	ZNF genes & repeats	Brain Anterior Caudate	brain
20	chr1:76288600-76289200	ZNF genes & repeats	Left Ventricle	heart
21	chr1:76288600-76289400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr1:76288600-76289400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
23	chr1:76288800-76289200	ZNF genes & repeats	Brain Angular Gyrus	brain
24	chr1:76288800-76289400	ZNF genes & repeats	Brain Substantia Nigra	brain
25	chr1:76289200-76289400	Weak transcription	Brain Angular Gyrus	brain
26	chr1:76289400-76295200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:76293600-76294200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:76295200-76295600	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:76295600-76295800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
30	chr1:76295800-76307800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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