Variant report

Variant	nsv946083
Chromosome Location	chr1:93975114-93983709
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93981493..93983941-chr1:93989441..93991308,2	K562	blood:
2	chr1:93980230..93982507-chr1:94311349..94313611,2	K562	blood:
3	chr1:93913269..93915340-chr1:93982226..93983852,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137942	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000260464	chromatin interactions

Extended variants
information (count: 390 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557664262	chr1:93975160-93975161	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569338645	chr1:93975168-93975169	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35633176	chr1:93975188-93975189	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563527488	chr1:93975191-93975192	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149974598	chr1:93975209-93975210	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6671037	chr1:93975227-93975228	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs573330486	chr1:93975246-93975247	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540742646	chr1:93975258-93975259	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564225473	chr1:93975263-93975264	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148739487	chr1:93975310-93975311	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142425231	chr1:93975311-93975312	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191511825	chr1:93975315-93975316	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146845571	chr1:93975335-93975336	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140638671	chr1:93975336-93975337	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559918898	chr1:93975353-93975354	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558979326	chr1:93975360-93975361	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527345286	chr1:93975361-93975362	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528090240	chr1:93975386-93975387	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532985973	chr1:93975387-93975388	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531372466	chr1:93975403-93975404	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549528732	chr1:93975407-93975408	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372017851	chr1:93975410-93975411	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs531359179	chr1:93975411-93975412	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs111775026	chr1:93975415-93975416	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs11164942	chr1:93975436-93975437	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs184733130	chr1:93975440-93975441	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs534281700	chr1:93975450-93975451	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530698645	chr1:93975457-93975458	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs376504810	chr1:93975476-93975477	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs550780500	chr1:93975478-93975479	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555922557	chr1:93975491-93975492	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573934045	chr1:93975496-93975497	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187920620	chr1:93975501-93975502	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs556303293	chr1:93975507-93975508	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs577820478	chr1:93975525-93975526	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs371490868	chr1:93975526-93975527	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs559906589	chr1:93975540-93975541	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs527511011	chr1:93975597-93975598	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542299743	chr1:93975668-93975669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369910816	chr1:93975734-93975735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570658391	chr1:93975785-93975786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112986091	chr1:93975801-93975802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539176559	chr1:93975870-93975871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531329625	chr1:93975885-93975886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145762033	chr1:93975923-93975924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143668772	chr1:93975929-93975930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4568843	chr1:93975947-93975948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201099101	chr1:93975955-93975956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4378215	chr1:93976040-93976041	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs552152337	chr1:93976075-93976076	Weak transcription	n/a	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	18451855	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93956400-93975200	Weak transcription	Fetal Stomach	stomach
2	chr1:93958000-93997200	Weak transcription	HSMMtube	muscle
3	chr1:93958800-93991800	Weak transcription	Gastric	stomach
4	chr1:93961000-93988400	Weak transcription	HUVEC	blood vessel
5	chr1:93962600-93984200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:93964600-93990200	Weak transcription	HSMM	muscle
7	chr1:93964600-94015200	Weak transcription	Fetal Brain Male	brain
8	chr1:93965000-94013200	Weak transcription	Adipose Nuclei	Adipose
9	chr1:93965000-94017400	Weak transcription	Stomach Mucosa	stomach
10	chr1:93965200-93984600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:93965200-93984800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:93965400-93983600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:93966000-93975200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:93967400-93984200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:93968600-93976800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:93968600-93984400	Weak transcription	NHEK	skin
17	chr1:93971800-93975400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:93971800-93975600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr1:93971800-93975600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr1:93972200-93993800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:93972400-93977000	Weak transcription	Lung	lung
22	chr1:93972800-93975400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:93973000-93975400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:93973000-93975400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:93973200-93975400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr1:93973200-94016800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:93973400-94032000	Weak transcription	Esophagus	oesophagus
28	chr1:93973800-93975400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr1:93973800-93975400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr1:93974000-93975200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr1:93974000-93975200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr1:93974000-93985000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:93974200-93975400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:93974200-93975400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:93974400-93975200	ZNF genes & repeats	Fetal Lung	lung
36	chr1:93974400-93975400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr1:93974400-93975400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:93974400-93975400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:93974400-93975400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:93974400-93975400	Strong transcription	Fetal Brain Female	brain
41	chr1:93974400-93975600	ZNF genes & repeats	Fetal Intestine Large	intestine
42	chr1:93974600-93975200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:93974600-93975200	ZNF genes & repeats	Dnd41	blood
44	chr1:93974600-93975400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:93974600-93975400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:93974600-93975400	ZNF genes & repeats	Brain Germinal Matrix	brain
47	chr1:93974600-93975400	Enhancers	Placenta	Placenta
48	chr1:93974800-93975200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr1:93974800-93975200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:93974800-93975200	Enhancers	HepG2	liver

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