Variant report

Variant	nsv933422
Chromosome Location	chr1:76226756-76229348
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:2)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:76227948..76230209-chr1:76256987..76259479,2	K562	blood:
2	chr1:76175057..76177134-chr1:76227565..76229242,2	K562	blood:
3	chr1:76226797..76230209-chr1:76256987..76259479,3	K562	blood:
4	chr1:76188926..76192007-chr1:76225372..76229604,4	K562	blood:
5	chr1:76204248..76206118-chr1:76227096..76229498,2	K562	blood:
6	chr1:76225609..76234140-chr1:76249320..76256385,15	K562	blood:
7	chr1:76222580..76224915-chr1:76228068..76230372,2	K562	blood:
8	chr1:76225579..76234839-chr1:76250485..76256385,12	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ACADM	hsa-miR-26b-5p	chr1:76229233-76229255
2	ACADM	hsa-miR-26b-5p	chr1:76228656-76228676

Variant related genes	Relation type
ENSG00000206620	chromatin interactions
ENSG00000117054	chromatin interactions
ENSG00000207241	chromatin interactions
ENSG00000178193	chromatin interactions
ENSG00000201487	chromatin interactions
ENSG00000137955	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201340300	chr1:76226774-76226775	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs138728545	chr1:76226821-76226822	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs200902176	chr1:76226844-76226845	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs77931234	chr1:76226846-76226847	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs138098371	chr1:76226855-76226856	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs543790339	chr1:76226875-76226876	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs148207467	chr1:76226906-76226907	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs373828881	chr1:76226938-76226939	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs150310121	chr1:76226946-76226947	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs150710061	chr1:76226952-76226953	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs376993634	chr1:76226956-76226957	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs387906297	chr1:76226963-76226964	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs144707412	chr1:76226977-76226978	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs373057729	chr1:76226979-76226980	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs121434275	chr1:76226985-76226986	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs201809827	chr1:76226986-76226987	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs144792540	chr1:76227021-76227022	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs1061337	chr1:76227022-76227023	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs113288586	chr1:76227027-76227028	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs369945009	chr1:76227058-76227059	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs77714958	chr1:76227060-76227061	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs373059851	chr1:76227066-76227067	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs182165379	chr1:76227133-76227134	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs138627458	chr1:76227194-76227195	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs550321953	chr1:76227202-76227203	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs568523484	chr1:76227203-76227204	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs531176968	chr1:76227213-76227214	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs114657718	chr1:76227251-76227252	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs551397840	chr1:76227260-76227261	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs12073631	chr1:76227278-76227279	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571320079	chr1:76227289-76227290	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs143166761	chr1:76227294-76227295	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs530459422	chr1:76227325-76227326	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs373926771	chr1:76227379-76227380	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs576451310	chr1:76227418-76227419	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs543757273	chr1:76227548-76227549	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs562251461	chr1:76227615-76227616	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs187804180	chr1:76227617-76227618	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs138852008	chr1:76227641-76227642	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs560457093	chr1:76227642-76227643	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs528020801	chr1:76227669-76227670	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs552609129	chr1:76227680-76227681	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs564744130	chr1:76227704-76227705	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs531742168	chr1:76227712-76227713	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs550160971	chr1:76227724-76227725	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs142821925	chr1:76227754-76227755	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs116529512	chr1:76227782-76227783	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs548393926	chr1:76227806-76227807	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs1146585	chr1:76227848-76227849	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533954771	chr1:76227908-76227909	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76192000-76227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
3	chr1:76204800-76229000	Weak transcription	Psoas Muscle	Psoas
4	chr1:76208800-76231400	Weak transcription	A549	lung
5	chr1:76208800-76231400	Weak transcription	NHEK	skin
6	chr1:76208800-76231600	Weak transcription	Hela-S3	cervix
7	chr1:76209000-76230800	Weak transcription	HUVEC	blood vessel
8	chr1:76209000-76230800	Weak transcription	NHLF	lung
9	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
10	chr1:76211600-76230800	Weak transcription	HMEC	breast
11	chr1:76217600-76231400	Weak transcription	Osteobl	bone
12	chr1:76219600-76230600	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:76220800-76228000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:76220800-76229600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:76221200-76229600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:76221200-76229800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:76221200-76230200	Weak transcription	Small Intestine	intestine
18	chr1:76221200-76231400	Weak transcription	Gastric	stomach
19	chr1:76221200-76238400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:76221400-76229000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:76221400-76230000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:76221400-76230600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:76221400-76230600	Weak transcription	Colonic Mucosa	Colon
24	chr1:76221400-76231200	Weak transcription	NH-A	brain
25	chr1:76221400-76231400	Weak transcription	Pancreas	Pancrea
26	chr1:76221400-76233200	Weak transcription	Brain Anterior Caudate	brain
27	chr1:76221600-76227400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:76221600-76229000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:76221600-76229000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:76221600-76229400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:76221600-76230800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:76221600-76230800	Weak transcription	Lung	lung
33	chr1:76221600-76231000	Weak transcription	Aorta	Aorta
34	chr1:76221600-76231000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:76221600-76231000	Weak transcription	Right Ventricle	heart
36	chr1:76221600-76231200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:76221600-76231400	Weak transcription	Fetal Heart	heart
38	chr1:76221600-76231400	Weak transcription	Ovary	ovary
39	chr1:76221600-76231400	Weak transcription	HSMM	muscle
40	chr1:76221600-76231600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:76221600-76231600	Weak transcription	Esophagus	oesophagus
42	chr1:76221600-76231800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:76221600-76232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:76221600-76234200	Weak transcription	Thymus	Thymus
45	chr1:76221800-76226800	Weak transcription	Adipose Nuclei	Adipose
46	chr1:76221800-76227000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:76221800-76228600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:76221800-76229400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:76221800-76230000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:76221800-76231400	Weak transcription	Primary T cells from cord blood	blood

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