Variant report

Variant	nsv547569
Chromosome Location	chr1:114587766-114625425
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:58)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:114619110..114621126-chr1:114623734..114625558,2	MCF-7	breast:
2	chr1:114575470..114578189-chr1:114589215..114591996,2	MCF-7	breast:
3	chr1:114595497..114597013-chr1:114615849..114618370,2	MCF-7	breast:
4	chr1:114618845..114623942-chr1:114646339..114650725,5	K562	blood:
5	chr1:114587184..114588685-chr1:114594720..114597075,2	MCF-7	breast:
6	chr1:114621614..114625641-chr1:114627637..114630642,5	MCF-7	breast:
7	chr1:114615333..114617366-chr1:114618572..114622103,3	MCF-7	breast:
8	chr1:114594128..114597061-chr1:114598670..114602014,3	K562	blood:
9	chr1:114623443..114625086-chr1:114646378..114649376,2	MCF-7	breast:
10	chr1:114596275..114599885-chr1:114602118..114604793,4	MCF-7	breast:
11	chr1:114595324..114597061-chr1:114598670..114600429,2	K562	blood:
12	chr1:114621189..114624161-chr1:114624603..114627561,2	MCF-7	breast:
13	chr1:114623967..114627228-chr1:114653926..114657100,3	K562	blood:
14	chr1:114619893..114621772-chr1:114628579..114631100,2	K562	blood:
15	chr1:114591094..114593001-chr1:114597614..114600452,2	K562	blood:
16	chr1:114585530..114588046-chr1:114622243..114625192,2	MCF-7	breast:
17	chr1:114589518..114591108-chr3:138330030..138332781,2	MCF-7	breast:
18	chr1:114623233..114626213-chr1:114628057..114630881,2	MCF-7	breast:
19	chr1:114574403..114579108-chr1:114596233..114599527,4	MCF-7	breast:
20	chr1:114622978..114624850-chr1:114631816..114634562,2	K562	blood:
21	chr1:114596275..114599885-chr1:114602118..114604793,4	MCF-7	breast:
22	chr1:114623682..114625448-chr1:114629138..114631604,2	K562	blood:
23	chr1:114583212..114585104-chr1:114595811..114597428,2	MCF-7	breast:
24	chr1:114613845..114616518-chr1:114618546..114620521,2	MCF-7	breast:
25	chr1:114587184..114588685-chr1:114594720..114597075,2	MCF-7	breast:
26	chr1:114624344..114625029-chr5:97973309..97973944,2	MCF-7	breast:
27	chr1:114609946..114612096-chr1:114617825..114619412,2	MCF-7	breast:
28	chr1:114563454..114565065-chr1:114613996..114616679,2	MCF-7	breast:
29	chr1:114202310..114204666-chr1:114619854..114621847,2	K562	blood:
30	chr1:114594128..114597061-chr1:114598670..114602014,3	K562	blood:
31	chr1:114590926..114593498-chr1:114625359..114627730,2	MCF-7	breast:
32	chr1:114621189..114624161-chr1:114624603..114627561,2	MCF-7	breast:
33	chr1:114615333..114617366-chr1:114618572..114622103,3	MCF-7	breast:
34	chr1:114585530..114588046-chr1:114622243..114625192,2	MCF-7	breast:
35	chr1:114595497..114597013-chr1:114615849..114618370,2	MCF-7	breast:
36	chr1:114616664..114618910-chr1:114620600..114622637,2	K562	blood:
37	chr1:114590280..114592785-chr1:114645644..114647854,2	MCF-7	breast:
38	chr1:114620515..114623507-chr1:114624325..114627250,3	K562	blood:
39	chr1:114619110..114621126-chr1:114623734..114625558,2	MCF-7	breast:
40	chr1:114614196..114617663-chr1:114624428..114628635,5	MCF-7	breast:
41	chr1:114616664..114618910-chr1:114620600..114622637,2	K562	blood:
42	chr1:114620515..114623507-chr1:114624325..114627250,3	K562	blood:
43	chr1:114595324..114597061-chr1:114598670..114600429,2	K562	blood:
44	chr1:114623758..114625854-chr1:114633416..114636156,2	MCF-7	breast:
45	chr1:114591094..114593001-chr1:114597614..114600452,2	K562	blood:
46	chr1:114609946..114612096-chr1:114617825..114619412,2	MCF-7	breast:
47	chr1:114555472..114558426-chr1:114586301..114588819,2	MCF-7	breast:
48	chr1:114613845..114616518-chr1:114618546..114620521,2	MCF-7	breast:
49	chr1:114572795..114577655-chr1:114580622..114587867,10	MCF-7	breast:
50	chr1:114616645..114618527-chr1:114694033..114695750,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFML3-3	chr1:114606351-114606423	NONHSAT005349

No data

Variant related genes	Relation type
ENSG00000134207	chromatin interactions

Extended variants
information (count: 1436 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1436 , 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	rs11102720	chr1:114587766-114587767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540292178	chr1:114587781-114587782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560233559	chr1:114587790-114587791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560237301	chr1:114587817-114587818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143267560	chr1:114587839-114587840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77623327	chr1:114587841-114587842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562639867	chr1:114587849-114587850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531590462	chr1:114587854-114587855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184436749	chr1:114587886-114587887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562969636	chr1:114587915-114587916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147142634	chr1:114587943-114587944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140268565	chr1:114587952-114587953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80314401	chr1:114587957-114587958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34573609	chr1:114587961-114587962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34463377	chr1:114588021-114588022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570595317	chr1:114588101-114588102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141139315	chr1:114588114-114588115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556169438	chr1:114588115-114588116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548673824	chr1:114588130-114588131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2938324	chr1:114588200-114588201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186951491	chr1:114588224-114588225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554977628	chr1:114588235-114588236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112792982	chr1:114588243-114588244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574662317	chr1:114588251-114588252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540462537	chr1:114588280-114588281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11809724	chr1:114588287-114588288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576974102	chr1:114588306-114588307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527908056	chr1:114588329-114588330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2938325	chr1:114588338-114588339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs562860984	chr1:114588392-114588393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531624009	chr1:114588437-114588438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542080540	chr1:114588486-114588487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561992531	chr1:114588583-114588584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150754548	chr1:114588589-114588590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547652232	chr1:114588622-114588623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139089130	chr1:114588663-114588664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532996516	chr1:114588723-114588724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149943955	chr1:114588757-114588758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569596894	chr1:114588784-114588785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146473186	chr1:114588809-114588810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139977996	chr1:114588810-114588811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568456989	chr1:114588841-114588842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535136421	chr1:114588880-114588881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534125175	chr1:114588895-114588896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558298357	chr1:114588942-114588943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76116572	chr1:114588957-114588958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143443676	chr1:114588965-114588966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146793056	chr1:114589016-114589017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77934526	chr1:114589099-114589100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1587773	chr1:114589117-114589118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114583000-114590400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:114583800-114590200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:114584800-114590600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:114585800-114590400	Weak transcription	Spleen	Spleen
5	chr1:114587400-114587800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:114590200-114591000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr1:114590200-114591000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:114590400-114590600	Enhancers	Spleen	Spleen
9	chr1:114590400-114591000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr1:114590600-114591000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:114590600-114592200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:114590600-114592200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:114591000-114593400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:114591000-114597600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:114591800-114592400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:114592000-114592200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:114592200-114592400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:114592200-114592800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:114592400-114596800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:114592400-114603600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:114593400-114593600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:114593600-114596400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:114596400-114596600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:114596400-114596600	Enhancers	Liver	Liver
25	chr1:114596400-114596600	Enhancers	Ovary	ovary
26	chr1:114596800-114597200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:114596800-114597200	Bivalent Enhancer	Pancreatic Islets	Pancreatic Islet
28	chr1:114597000-114597200	ZNF genes & repeats	Fetal Kidney	kidney
29	chr1:114597200-114597400	Enhancers	Ovary	ovary
30	chr1:114597200-114605600	Weak transcription	Fetal Kidney	kidney
31	chr1:114597200-114614600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:114600600-114600800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr1:114601800-114602000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:114602000-114603600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:114602200-114604600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:114603000-114604200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:114603600-114603800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:114603600-114604600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:114603600-114604600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:114603600-114604600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:114603600-114605200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:114603800-114604000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:114604000-114604600	Enhancers	HMEC	breast
44	chr1:114604200-114604400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:114604200-114604600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:114604200-114604800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:114604400-114604600	Enhancers	Gastric	stomach
48	chr1:114604400-114605400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:114604600-114604800	Weak transcription	Fetal Intestine Small	intestine
50	chr1:114604600-114605600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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