Variant report

Variant	nsv947110
Chromosome Location	chr1:45627447-45642615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45636963..45639172-chr1:45642101..45643985,2	K562	blood:
2	chr1:45480011..45482836-chr1:45633492..45635826,3	K562	blood:
3	chr1:45634504..45636709-chr1:45639040..45640669,2	K562	blood:
4	chr1:45475818..45477746-chr1:45634915..45637368,2	K562	blood:
5	chr1:45636963..45639172-chr1:45642101..45643985,2	K562	blood:
6	chr1:45607017..45608869-chr1:45636560..45638777,2	MCF-7	breast:
7	chr1:45634504..45636709-chr1:45639040..45640669,2	K562	blood:

Variant related genes	Relation type
ENSG00000126088	chromatin interactions
ENSG00000126107	chromatin interactions

Extended variants
information (count: 622 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574262290	chr1:45627460-45627461	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536759144	chr1:45627461-45627462	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556342077	chr1:45627470-45627471	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543806873	chr1:45627568-45627569	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs346724	chr1:45627630-45627631	ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs377309121	chr1:45627633-45627634	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs183577430	chr1:45627635-45627636	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs346725	chr1:45627663-45627664	ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144083638	chr1:45627673-45627674	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540907765	chr1:45627726-45627727	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542389428	chr1:45627735-45627736	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs560768580	chr1:45627751-45627752	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559156489	chr1:45627779-45627780	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs146001655	chr1:45627785-45627786	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs188112790	chr1:45627824-45627825	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563188222	chr1:45627890-45627891	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs532229610	chr1:45627899-45627900	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551925735	chr1:45627949-45627950	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148680725	chr1:45627970-45627971	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs376386714	chr1:45627989-45627990	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192895998	chr1:45628015-45628016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182759653	chr1:45628042-45628043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567869423	chr1:45628044-45628045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs346726	chr1:45628091-45628092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556715406	chr1:45628123-45628124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576503032	chr1:45628152-45628153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551159676	chr1:45628189-45628190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151233530	chr1:45628204-45628205	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186809569	chr1:45628237-45628238	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs139679613	chr1:45628238-45628239	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs144650598	chr1:45628312-45628313	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs371481374	chr1:45628336-45628337	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs3009982	chr1:45628349-45628350	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs563488237	chr1:45628353-45628354	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs191268857	chr1:45628374-45628375	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs545861466	chr1:45628376-45628377	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs184983082	chr1:45628378-45628379	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs150637976	chr1:45628393-45628394	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528051213	chr1:45628437-45628438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548112950	chr1:45628454-45628455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189364258	chr1:45628455-45628456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141668762	chr1:45628462-45628463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550144899	chr1:45628478-45628479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570211794	chr1:45628535-45628536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538780633	chr1:45628576-45628577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566108356	chr1:45628656-45628657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558972723	chr1:45628711-45628712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147075926	chr1:45628740-45628741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534651150	chr1:45628813-45628814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111343415	chr1:45628852-45628853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45627000-45627800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:45627400-45627600	Enhancers	Hela-S3	cervix
3	chr1:45627600-45628000	Flanking Active TSS	Hela-S3	cervix
4	chr1:45627800-45629000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:45628000-45628200	Enhancers	Hela-S3	cervix
6	chr1:45628200-45628400	Flanking Active TSS	Hela-S3	cervix
7	chr1:45628200-45629200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:45628200-45629200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:45628200-45629400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:45628200-45629400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:45628200-45629400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:45628400-45629600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:45628400-45634800	Weak transcription	Hela-S3	cervix
14	chr1:45634600-45634800	Enhancers	HepG2	liver
15	chr1:45634600-45635200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:45634800-45635000	Enhancers	Hela-S3	cervix
17	chr1:45635000-45635800	Weak transcription	Hela-S3	cervix
18	chr1:45635000-45636000	Weak transcription	HepG2	liver
19	chr1:45635000-45636400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:45635600-45637400	Enhancers	A549	lung
21	chr1:45635600-45642400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:45635800-45638600	Enhancers	Hela-S3	cervix
23	chr1:45636000-45637200	Enhancers	HepG2	liver
24	chr1:45636200-45636600	Enhancers	Pancreas	Pancrea
25	chr1:45636400-45637200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:45636600-45639600	Weak transcription	Pancreas	Pancrea
27	chr1:45636800-45637200	Enhancers	Fetal Intestine Small	intestine
28	chr1:45637200-45637400	Flanking Active TSS	HepG2	liver
29	chr1:45637200-45637600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr1:45637400-45637800	Enhancers	Fetal Intestine Small	intestine
31	chr1:45637400-45637800	Flanking Active TSS	A549	lung
32	chr1:45637400-45637800	Enhancers	HepG2	liver
33	chr1:45637400-45638800	Enhancers	Liver	Liver
34	chr1:45637600-45638000	Enhancers	Fetal Intestine Large	intestine
35	chr1:45637600-45638000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr1:45637800-45638200	Active TSS	HepG2	liver
37	chr1:45637800-45639000	Enhancers	A549	lung
38	chr1:45638000-45638200	Weak transcription	Fetal Intestine Large	intestine
39	chr1:45638000-45638800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr1:45638200-45638600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:45638200-45638600	Enhancers	Fetal Intestine Large	intestine
42	chr1:45638200-45638600	Flanking Active TSS	HepG2	liver
43	chr1:45638400-45638800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:45638400-45639000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr1:45638600-45639400	Enhancers	Brain Germinal Matrix	brain
46	chr1:45638600-45640000	Enhancers	HepG2	liver
47	chr1:45638600-45642400	Weak transcription	Hela-S3	cervix
48	chr1:45638600-45643600	Weak transcription	Fetal Intestine Large	intestine
49	chr1:45638800-45639000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:45638800-45639800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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