Variant report

Variant	esv2763560
Chromosome Location	chr1:73077448-73122262
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:73121352..73124244-chr1:73125814..73128395,2	K562	blood:
2	chr1:73088631..73089551-chr1:73310778..73311326,2	MCF-7	breast:
3	chr1:73101646..73104489-chr1:73107519..73109792,2	K562	blood:
4	chr1:73115458..73117504-chr1:73118558..73120505,2	K562	blood:
5	chr1:73113202..73113702-chr17:56736134..56736899,3	MCF-7	breast:
6	chr1:73113182..73114702-chr17:56734945..56736988,2	K562	blood:
7	chr1:73115458..73117504-chr1:73118558..73120505,2	K562	blood:
8	chr1:73113182..73114702-chr17:56735103..56736837,5	MCF-7	breast:
9	chr1:73113202..73114702-chr17:56735176..56736818,3	MCF-7	breast:
10	chr1:73113182..73113702-chr17:56736111..56737064,10	MCF-7	breast:
11	chr1:73101646..73104489-chr1:73107519..73109792,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEGR1-4	chr1:73089021-73089071	NONHSAT003911

No data

Variant related genes	Relation type
ENSG00000202077	chromatin interactions

Extended variants
information (count: 841 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141521312	chr1:73083662-73083663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145840627	chr1:73083668-73083669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185913604	chr1:73083766-73083767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138561938	chr1:73083791-73083792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12402507	chr1:73083818-73083819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141643252	chr1:73083839-73083840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558002464	chr1:73083920-73083921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190737616	chr1:73083984-73083985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188458875	chr1:73085616-73085617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527606494	chr1:73085678-73085679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554077797	chr1:73085686-73085687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377687390	chr1:73085703-73085704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547704633	chr1:73085747-73085748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192242411	chr1:73085786-73085787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183928397	chr1:73085848-73085849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549457008	chr1:73085910-73085911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189342495	chr1:73085930-73085931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181979292	chr1:73085967-73085968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12137919	chr1:73086013-73086014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184348980	chr1:73086044-73086045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190015662	chr1:73086063-73086064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142161217	chr1:73086065-73086066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147407037	chr1:73086088-73086089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574146975	chr1:73086101-73086102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375510581	chr1:73086114-73086115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368422658	chr1:73086125-73086126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543283714	chr1:73086196-73086197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17093100	chr1:73086201-73086202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182137796	chr1:73086227-73086228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186331824	chr1:73086252-73086253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565119035	chr1:73086295-73086296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527712706	chr1:73086374-73086375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145466856	chr1:73086383-73086384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147702780	chr1:73086420-73086421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529796204	chr1:73086461-73086462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549566984	chr1:73086474-73086475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576416980	chr1:73086644-73086645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141847012	chr1:73086651-73086652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372861402	chr1:73086664-73086665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191531467	chr1:73086723-73086724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202190513	chr1:73086808-73086809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs36000928	chr1:73086809-73086810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551890195	chr1:73086813-73086814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565519708	chr1:73086822-73086823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180781701	chr1:73086834-73086835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12066923	chr1:73086863-73086864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6687187	chr1:73086988-73086989	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377029988	chr1:73086996-73086997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536796738	chr1:73086998-73086999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145750028	chr1:73088829-73088830	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73083600-73084000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:73085600-73087000	Enhancers	HUVEC	blood vessel
3	chr1:73088800-73089000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:73089000-73089200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:73089000-73089200	Active TSS	Primary monocytes fromperipheralblood	blood
6	chr1:73089000-73089200	Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:73089000-73089200	Active TSS	Primary hematopoietic stem cells	blood
8	chr1:73089000-73089200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:73089000-73089200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:73089000-73089200	Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:73089000-73089200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:73089000-73089200	Active TSS	Adipose Nuclei	Adipose
13	chr1:73089000-73089200	Active TSS	Liver	Liver
14	chr1:73089000-73089200	Active TSS	Colon Smooth Muscle	Colon
15	chr1:73089000-73089200	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr1:73089000-73089200	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr1:73089000-73089200	Active TSS	HSMM	muscle
18	chr1:73089000-73089200	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr1:73089000-73089200	Active TSS	NHDF-Ad	bronchial
20	chr1:73089000-73089200	Active TSS	NHEK	skin
21	chr1:73089000-73089200	Active TSS	Osteobl	bone
22	chr1:73089000-73089400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:73089000-73089400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:73089000-73089400	Active TSS	Primary T cells from cord blood	blood
25	chr1:73089000-73089400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:73089000-73089400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:73089000-73089400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:73089000-73089400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:73089000-73089400	Active TSS	Brain Angular Gyrus	brain
30	chr1:73089000-73089400	Active TSS	Brain Anterior Caudate	brain
31	chr1:73089000-73089400	Active TSS	Brain Cingulate Gyrus	brain
32	chr1:73089000-73089400	Active TSS	Brain Hippocampus Middle	brain
33	chr1:73089000-73089400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:73089000-73089400	Active TSS	Brain Substantia Nigra	brain
35	chr1:73089000-73089400	Active TSS	Duodenum Mucosa	Duodenum
36	chr1:73089000-73089400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:73089000-73089400	Active TSS	Fetal Kidney	kidney
38	chr1:73089000-73089400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr1:73089000-73089400	Active TSS	Fetal Lung	lung
40	chr1:73089000-73089400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr1:73089000-73089400	Active TSS	Rectal Smooth Muscle	rectum
42	chr1:73089000-73089400	Active TSS	Right Atrium	heart
43	chr1:73089000-73089400	Active TSS	Stomach Mucosa	stomach
44	chr1:73089000-73089400	Active TSS	Thymus	Thymus
45	chr1:73089000-73089400	Enhancers	Dnd41	blood
46	chr1:73089000-73089400	Active TSS	GM12878-XiMat	blood
47	chr1:73089000-73089400	Active TSS	HSMMtube	muscle
48	chr1:73089000-73089400	Active TSS	NHLF	lung
49	chr1:73089000-73089600	Active TSS	Aorta	Aorta
50	chr1:73089200-73089400	Enhancers	HUES6 Cell Line	embryonic stem cell

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