Variant report

Variant	nsv539445
Chromosome Location	chr8:8118450-8151571
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:60)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:8147966..8148515-chr8:8336160..8336710,2	MCF-7	breast:
2	chr8:8131655..8133179-chr8:8135431..8137292,2	MCF-7	breast:
3	chr8:8094104..8094693-chr8:8146401..8147333,2	MCF-7	breast:
4	chr8:8101157..8102709-chr8:8124508..8126459,2	MCF-7	breast:
5	chr8:8125550..8129443-chr8:8243752..8245349,3	MCF-7	breast:
6	chr8:8142878..8144520-chr8:8146399..8149197,2	MCF-7	breast:
7	chr8:8146657..8147172-chr8:8172119..8172832,2	MCF-7	breast:
8	chr8:8151372..8154142-chr8:8175847..8177840,2	MCF-7	breast:
9	chr8:8147577..8148485-chr8:8171987..8172936,5	MCF-7	breast:
10	chr8:8146324..8147133-chr8:8168152..8168656,2	MCF-7	breast:
11	chr8:8140760..8143388-chr8:8146728..8148425,2	K562	blood:
12	chr8:8130411..8130935-chr8:8374466..8375028,2	K562	blood:
13	chr8:8129344..8132133-chr8:8525629..8527896,2	MCF-7	breast:
14	chr8:8142616..8145069-chr8:8226333..8228141,2	MCF-7	breast:
15	chr8:8094096..8094629-chr8:8147947..8148540,2	MCF-7	breast:
16	chr8:8148672..8150547-chr8:8158525..8160965,2	MCF-7	breast:
17	chr8:8144670..8146200-chr8:8236707..8239376,2	MCF-7	breast:
18	chr8:8141970..8144276-chr8:8242374..8245136,3	MCF-7	breast:
19	chr8:8118434..8122893-chr8:8123384..8125953,5	MCF-7	breast:
20	chr8:8145200..8147453-chr8:8312155..8314860,2	MCF-7	breast:
21	chr8:8147089..8149132-chr8:8190153..8192051,2	MCF-7	breast:
22	chr8:8147573..8150272-chr8:8166843..8168780,2	MCF-7	breast:
23	chr8:8130322..8131342-chr8:8527334..8528198,3	MCF-7	breast:
24	chr8:8146352..8147329-chr8:8172122..8173007,5	MCF-7	breast:
25	chr8:8138288..8140321-chr8:8142532..8144155,2	MCF-7	breast:
26	chr8:8128010..8130864-chr8:8317877..8319814,2	MCF-7	breast:
27	chr8:8145815..8148362-chr8:8152420..8155525,4	MCF-7	breast:
28	chr8:8147577..8148479-chr8:8171987..8172936,6	MCF-7	breast:
29	chr8:8146402..8147201-chr8:8172122..8172875,3	MCF-7	breast:
30	chr8:8147508..8148471-chr8:8365206..8366162,5	MCF-7	breast:
31	chr8:8147727..8148466-chr8:8172098..8172982,3	MCF-7	breast:
32	chr8:8128833..8131355-chr8:8136442..8139093,2	MCF-7	breast:
33	chr8:8094096..8095019-chr8:8147506..8148540,3	MCF-7	breast:
34	chr8:8118434..8122893-chr8:8123384..8125953,5	MCF-7	breast:
35	chr8:8146302..8147264-chr8:8365295..8366108,2	MCF-7	breast:
36	chr8:8134812..8136654-chr8:8146118..8147961,3	K562	blood:
37	chr8:8126193..8127836-chr8:8129384..8131743,2	MCF-7	breast:
38	chr8:8151537..8155554-chr8:8160869..8164322,5	MCF-7	breast:
39	chr8:8128833..8131355-chr8:8136442..8139093,2	MCF-7	breast:
40	chr8:8140760..8143388-chr8:8146728..8148425,2	K562	blood:
41	chr8:8144375..8149679-chr8:8240479..8246459,10	MCF-7	breast:
42	chr8:8130421..8131300-chr8:8175825..8176932,3	K562	blood:
43	chr8:8126556..8131624-chr8:8143035..8148399,10	MCF-7	breast:
44	chr8:8145045..8147805-chr8:8168275..8170393,2	MCF-7	breast:
45	chr8:8130511..8132438-chr8:8135661..8137544,2	K562	blood:
46	chr8:8130511..8132438-chr8:8135661..8137544,2	K562	blood:
47	chr8:8134812..8136654-chr8:8146118..8147961,3	K562	blood:
48	chr8:8131655..8133179-chr8:8135431..8137292,2	MCF-7	breast:
49	chr8:8134161..8136694-chr8:8559309..8560894,2	MCF-7	breast:
50	chr8:8130384..8131365-chr8:8526780..8528280,9	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRAGMIN.1-6	chr8:8150269-8151573	NONHSAT124869

No data

Variant related genes	Relation type
ENSG00000182319	chromatin interactions
ENSG00000254153	chromatin interactions
ENSG00000173295	chromatin interactions
ENSG00000253981	chromatin interactions
ENSG00000176305	chromatin interactions
ENSG00000253958	chromatin interactions
ENSG00000145592	chromatin interactions

Extended variants
information (count: 1856 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:1856 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188379883	chr8:8118497-8118498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367973233	chr8:8118524-8118525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560106408	chr8:8118557-8118558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117296065	chr8:8118577-8118578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545559204	chr8:8118583-8118584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10108729	chr8:8118600-8118601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs529735516	chr8:8118601-8118602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193048386	chr8:8118602-8118603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10108735	chr8:8118611-8118612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs114315227	chr8:8118621-8118622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142365531	chr8:8118636-8118637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371978387	chr8:8118662-8118663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545705943	chr8:8118697-8118698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563275002	chr8:8118719-8118720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184048901	chr8:8118737-8118738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540049845	chr8:8118747-8118748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187819555	chr8:8118752-8118753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570203122	chr8:8118756-8118757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151270143	chr8:8118765-8118766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191612726	chr8:8118768-8118769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183755339	chr8:8118803-8118804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140457465	chr8:8118806-8118807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs793762	chr8:8118812-8118813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs576961086	chr8:8118840-8118841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577708597	chr8:8118843-8118844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573893531	chr8:8118850-8118851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555947700	chr8:8118857-8118858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528699912	chr8:8118885-8118886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575737092	chr8:8118900-8118901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541398511	chr8:8118901-8118902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77041772	chr8:8118918-8118919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs793761	chr8:8118922-8118923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561359664	chr8:8118923-8118924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142456144	chr8:8118934-8118935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527321675	chr8:8118945-8118946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186638689	chr8:8118957-8118958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114876043	chr8:8118997-8118998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13265476	chr8:8118998-8118999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541215380	chr8:8119012-8119013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13256792	chr8:8119036-8119037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533352711	chr8:8119039-8119040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550359502	chr8:8119049-8119050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147024213	chr8:8119051-8119052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529428415	chr8:8119063-8119064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549533637	chr8:8119158-8119159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566058756	chr8:8119204-8119205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535064582	chr8:8119232-8119233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553773350	chr8:8119243-8119244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138211289	chr8:8119244-8119245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2001840	chr8:8119248-8119249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:144)

Disease	PMID	Source
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Incontinentia Pigmenti	22033527	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8109800-8119800	Weak transcription	Fetal Lung	lung
2	chr8:8113800-8121200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:8116800-8119400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:8116800-8119800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:8117200-8120600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:8117200-8121200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:8117400-8120800	Weak transcription	A549	lung
8	chr8:8117400-8121000	Weak transcription	Hela-S3	cervix
9	chr8:8117400-8121000	Weak transcription	NHEK	skin
10	chr8:8117600-8119200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:8117600-8119200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:8117600-8120600	Weak transcription	HMEC	breast
13	chr8:8117600-8124600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:8117600-8131200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:8117800-8119200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:8117800-8120800	Weak transcription	HepG2	liver
17	chr8:8118200-8118800	Enhancers	Primary B cells from peripheral blood	blood
18	chr8:8118400-8119200	Weak transcription	Placenta	Placenta
19	chr8:8119400-8120400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:8119800-8120000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:8119800-8120200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:8119800-8120200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:8119800-8120400	Enhancers	Fetal Lung	lung
24	chr8:8120000-8120200	Bivalent Enhancer	Osteobl	bone
25	chr8:8120200-8127800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:8120200-8128000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:8120400-8120600	Bivalent Enhancer	Fetal Heart	heart
28	chr8:8120400-8122600	Weak transcription	Fetal Lung	lung
29	chr8:8120600-8120800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:8120600-8121600	Enhancers	HMEC	breast
31	chr8:8120800-8121000	Enhancers	A549	lung
32	chr8:8120800-8121800	Enhancers	HepG2	liver
33	chr8:8120800-8125800	Weak transcription	Esophagus	oesophagus
34	chr8:8120800-8131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:8121000-8121400	Flanking Active TSS	A549	lung
36	chr8:8121000-8121600	Enhancers	Hela-S3	cervix
37	chr8:8121000-8121600	Enhancers	NHEK	skin
38	chr8:8121200-8121400	Enhancers	Stomach Mucosa	stomach
39	chr8:8121200-8121600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:8121200-8121600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:8121200-8123400	Enhancers	HUVEC	blood vessel
42	chr8:8121400-8121800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:8121400-8122200	Enhancers	A549	lung
44	chr8:8121600-8124600	Weak transcription	HMEC	breast
45	chr8:8121600-8124600	Weak transcription	NHEK	skin
46	chr8:8121600-8125000	Weak transcription	Hela-S3	cervix
47	chr8:8121600-8125600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:8121600-8125800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:8121800-8126200	Weak transcription	HepG2	liver
50	chr8:8122200-8124600	Weak transcription	A549	lung

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