Variant report

Variant	nsv1877
Chromosome Location	chr1:94247756-94292908
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:41)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94244543..94247746-chr1:94248419..94251309,3	MCF-7	breast:
2	chr1:94273349..94275410-chr1:94286366..94287981,2	K562	blood:
3	chr1:94146643..94149409-chr1:94276998..94280390,3	MCF-7	breast:
4	chr1:94278734..94280540-chr1:94311900..94313768,2	MCF-7	breast:
5	chr1:94146952..94147507-chr1:94279666..94280655,2	MCF-7	breast:
6	chr1:94264120..94265962-chr1:94267264..94268908,2	K562	blood:
7	chr1:94273349..94275410-chr1:94286366..94287981,2	K562	blood:
8	chr1:94269224..94270816-chr1:94271541..94273859,2	MCF-7	breast:
9	chr1:94262988..94265962-chr1:94267220..94268908,3	K562	blood:
10	chr1:93903297..93904174-chr1:94279235..94280195,4	K562	blood:
11	chr1:94279712..94280219-chr1:94309586..94310428,2	MCF-7	breast:
12	chr1:94089082..94091665-chr1:94278876..94280669,2	MCF-7	breast:
13	chr1:94279220..94281682-chr1:94312143..94314528,3	K562	blood:
14	chr1:94279623..94281366-chr1:94292858..94294814,2	MCF-7	breast:
15	chr1:94264120..94265962-chr1:94267264..94268908,2	K562	blood:
16	chr1:94094814..94095807-chr1:94279301..94280178,3	MCF-7	breast:
17	chr1:94145860..94148014-chr1:94253915..94255872,2	MCF-7	breast:
18	chr1:94290941..94292978-chr1:94306774..94308364,2	K562	blood:
19	chr1:94093897..94096295-chr1:94277751..94279857,3	MCF-7	breast:
20	chr1:94262988..94265962-chr1:94267220..94268908,3	K562	blood:
21	chr1:94279623..94281366-chr1:94292858..94294814,2	MCF-7	breast:
22	chr1:94094709..94095433-chr1:94279409..94280490,4	MCF-7	breast:
23	chr1:94094533..94095758-chr1:94278266..94279023,3	MCF-7	breast:
24	chr1:94262184..94264332-chr1:94311696..94313521,2	MCF-7	breast:
25	chr1:94146662..94149106-chr1:94275928..94279554,4	MCF-7	breast:
26	chr1:94095273..94097251-chr1:94284521..94286111,2	MCF-7	breast:
27	chr1:94285157..94287017-chr1:94328663..94330459,2	K562	blood:
28	chr1:94280000..94282465-chr1:94282888..94285001,2	K562	blood:
29	chr1:94144057..94145779-chr1:94248276..94250038,2	MCF-7	breast:
30	chr1:94094703..94095710-chr1:94279237..94280002,9	K562	blood:
31	chr1:94242236..94243753-chr1:94263548..94266420,2	K562	blood:
32	chr1:94243077..94247180-chr1:94249014..94254909,5	MCF-7	breast:
33	chr1:94279426..94281422-chr1:94311178..94313738,2	K562	blood:
34	chr1:94145037..94147485-chr1:94269296..94271164,2	MCF-7	breast:
35	chr1:94096882..94097807-chr1:94279318..94280136,2	MCF-7	breast:
36	chr1:94137739..94141828-chr1:94278104..94280351,3	MCF-7	breast:
37	chr1:94096488..94097857-chr1:94279258..94281095,8	MCF-7	breast:
38	chr1:94280000..94282465-chr1:94282888..94285001,2	K562	blood:
39	chr1:94269224..94270816-chr1:94271541..94273859,2	MCF-7	breast:
40	chr1:94146007..94146592-chr1:94279239..94279807,2	MCF-7	breast:
41	chr1:94145260..94147356-chr1:94280674..94282798,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNTTIP2-1	chr1:94254825-94255539	NONHSAT004544
2	lnc-DNTTIP2-1	chr1:94247113-94249747	NONHSAT004544

No data

Variant related genes	Relation type
ENSG00000137936	chromatin interactions
ENSG00000260464	chromatin interactions
ENSG00000211575	chromatin interactions

Extended variants
information (count: 1433 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1433 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550736440	chr1:94247757-94247758	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs562499114	chr1:94247771-94247772	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs187139685	chr1:94247804-94247805	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs7548162	chr1:94247839-94247840	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139634182	chr1:94247876-94247877	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs551433371	chr1:94247894-94247895	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs571211798	chr1:94247954-94247955	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs7532168	chr1:94247957-94247958	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144182728	chr1:94248037-94248038	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs376848870	chr1:94248055-94248056	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs76485769	chr1:94248062-94248063	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs567291236	chr1:94248076-94248077	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs570517257	chr1:94248112-94248113	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs373985636	chr1:94248132-94248133	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs11164988	chr1:94248148-94248149	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567389632	chr1:94248191-94248192	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs372946243	chr1:94248206-94248207	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs536020558	chr1:94248207-94248208	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs57767557	chr1:94248208-94248209	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs11164989	chr1:94248230-94248231	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558525910	chr1:94248261-94248262	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs573554404	chr1:94248345-94248346	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs11164990	chr1:94248356-94248357	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562295391	chr1:94248358-94248359	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs574056034	chr1:94248360-94248361	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs373732405	chr1:94248377-94248378	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs368617805	chr1:94248405-94248406	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs11164991	chr1:94248426-94248427	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12119418	chr1:94248452-94248453	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs75043317	chr1:94248484-94248485	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs189622835	chr1:94248519-94248520	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs527574955	chr1:94248540-94248541	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs182344594	chr1:94248564-94248565	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs11164992	chr1:94248593-94248594	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368442393	chr1:94248609-94248610	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs549871475	chr1:94248612-94248613	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs113139018	chr1:94248652-94248653	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs538667785	chr1:94248662-94248663	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs372335540	chr1:94248707-94248708	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs12122871	chr1:94248732-94248733	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188734338	chr1:94248740-94248741	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs534461128	chr1:94248754-94248755	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs555682372	chr1:94248774-94248775	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs77885768	chr1:94248803-94248804	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs544395632	chr1:94248818-94248819	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs193261476	chr1:94248888-94248889	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs12119582	chr1:94248898-94248899	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12130680	chr1:94248933-94248934	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs11164993	chr1:94248935-94248936	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs184984450	chr1:94248977-94248978	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94220000-94254200	Weak transcription	Aorta	Aorta
2	chr1:94241000-94249000	Enhancers	Hela-S3	cervix
3	chr1:94241200-94248400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:94243000-94247800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:94243600-94248400	Enhancers	Placenta	Placenta
6	chr1:94244000-94248000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:94245600-94253000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:94245800-94247800	Weak transcription	HepG2	liver
9	chr1:94245800-94248400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:94245800-94249000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:94246600-94255400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:94246800-94266600	Weak transcription	A549	lung
13	chr1:94247400-94249200	Weak transcription	HMEC	breast
14	chr1:94247400-94249200	Weak transcription	NHEK	skin
15	chr1:94247600-94251000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:94247800-94248400	Enhancers	HepG2	liver
17	chr1:94247800-94251400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:94248200-94248400	Enhancers	HUVEC	blood vessel
19	chr1:94248400-94249200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:94248400-94249400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:94248400-94249400	Weak transcription	HepG2	liver
22	chr1:94249000-94252000	Weak transcription	Hela-S3	cervix
23	chr1:94249000-94263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:94249200-94250000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:94249200-94250000	Enhancers	HMEC	breast
26	chr1:94249200-94250200	Enhancers	NHEK	skin
27	chr1:94249400-94249800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:94249400-94251200	Enhancers	HepG2	liver
29	chr1:94250400-94250600	Enhancers	Placenta	Placenta
30	chr1:94251000-94252200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:94251200-94252200	Weak transcription	HepG2	liver
32	chr1:94251400-94251800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:94251800-94252000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:94251800-94252000	Enhancers	Left Ventricle	heart
35	chr1:94252000-94252800	Enhancers	Hela-S3	cervix
36	chr1:94252000-94263600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:94252200-94252400	Enhancers	HepG2	liver
38	chr1:94252200-94252600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:94254200-94254400	ZNF genes & repeats	Aorta	Aorta
40	chr1:94255200-94255600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr1:94255200-94255600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr1:94255400-94255600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:94262200-94262400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:94262400-94262600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:94262400-94270200	Enhancers	Hela-S3	cervix
46	chr1:94262600-94262800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:94262600-94262800	Enhancers	Fetal Muscle Leg	muscle
48	chr1:94262600-94263600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:94262600-94264800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:94262600-94265000	Enhancers	HUVEC	blood vessel

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