Variant report

Variant	nsv435643
Chromosome Location	chr1:75840855-75848976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75837137..75838827-chr1:75839642..75842194,2	K562	blood:
2	chr1:75820905..75823291-chr1:75839784..75841753,2	K562	blood:
3	chr1:75826578..75828663-chr1:75838109..75841105,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560072830	chr1:75840855-75840856	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs569231958	chr1:75840856-75840857	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115893756	chr1:75840866-75840867	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs1249804	chr1:75840934-75840935	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs564619762	chr1:75840951-75840952	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs532192438	chr1:75840982-75840983	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs182479056	chr1:75841035-75841036	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs2347214	chr1:75841038-75841039	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs114169947	chr1:75841039-75841040	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534066025	chr1:75841055-75841056	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554333648	chr1:75841106-75841107	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs114723802	chr1:75841133-75841134	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369675972	chr1:75841134-75841135	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149666211	chr1:75841144-75841145	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs2175617	chr1:75841147-75841148	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs570557955	chr1:75841184-75841185	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs61798711	chr1:75841233-75841234	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs556754415	chr1:75841236-75841237	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568324288	chr1:75841259-75841260	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145668326	chr1:75841264-75841265	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200896839	chr1:75841287-75841288	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554065331	chr1:75841319-75841320	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372602538	chr1:75841362-75841363	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117444894	chr1:75841367-75841368	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556448442	chr1:75841385-75841386	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2347215	chr1:75841403-75841404	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs557949359	chr1:75841444-75841445	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141397296	chr1:75841470-75841471	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563214313	chr1:75841471-75841472	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186762516	chr1:75841479-75841480	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146984612	chr1:75841510-75841511	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192335845	chr1:75841516-75841517	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542113642	chr1:75841523-75841524	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560474636	chr1:75841525-75841526	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527260317	chr1:75841561-75841562	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183657523	chr1:75841563-75841564	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570442842	chr1:75841572-75841573	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1313032	chr1:75841580-75841581	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs549610845	chr1:75841595-75841596	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377087868	chr1:75841612-75841613	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs142450116	chr1:75841642-75841643	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370471778	chr1:75841646-75841647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs539996243	chr1:75841651-75841652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs554028550	chr1:75841656-75841657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs4353040	chr1:75841662-75841663	Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs4554668	chr1:75841664-75841665	Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs558092296	chr1:75841669-75841670	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs576362730	chr1:75841670-75841671	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs200362402	chr1:75841675-75841676	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs188754255	chr1:75841699-75841700	Active TSS	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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75831200-75841000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:75831400-75841400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:75833400-75841000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:75833600-75841200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:75836800-75841200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:75837800-75841600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:75838200-75841800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:75840000-75841000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:75840000-75841800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:75840200-75841000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:75840400-75841000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:75840400-75841200	Weak transcription	Placenta	Placenta
13	chr1:75840400-75841600	Active TSS	HepG2	liver
14	chr1:75840600-75841000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:75840600-75841600	Active TSS	K562	blood
16	chr1:75840600-75841600	Active TSS	NHEK	skin
17	chr1:75840600-75842000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:75840800-75841000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:75840800-75841200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:75841000-75841200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr1:75841000-75841400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:75841000-75841600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:75841000-75841600	Active TSS	Primary B cells from cord blood	blood
24	chr1:75841000-75841600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:75841000-75841600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:75841000-75841600	Active TSS	A549	lung
27	chr1:75841000-75841800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:75841000-75841800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr1:75841000-75841800	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:75841000-75841800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:75841000-75841800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:75841000-75842000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr1:75841000-75842000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:75841000-75842000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:75841200-75841400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr1:75841200-75841600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr1:75841200-75841600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:75841200-75841600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr1:75841200-75841600	Active TSS	Stomach Mucosa	stomach
40	chr1:75841200-75841800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:75841200-75841800	Active TSS	Placenta	Placenta
42	chr1:75841200-75842000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr1:75841200-75842000	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr1:75841400-75841600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr1:75841400-75841800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:75841400-75842000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:75841600-75841800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:75841600-75842000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr1:75842000-75842400	Enhancers	H1 Cell Line	embryonic stem cell

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