Variant report

Variant	nsv523098
Chromosome Location	chr8:8944307-8982396
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:46)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8934965..8937761-chr8:8946475..8949446,3	MCF-7	breast:
2	chr8:8943472..8945578-chr8:8953667..8955933,2	MCF-7	breast:
3	chr8:8952658..8954471-chr8:8958046..8960043,2	K562	blood:
4	chr8:8944921..8946631-chr8:9007353..9010228,2	K562	blood:
5	chr8:8952889..8954018-chr8:8976969..8978020,7	MCF-7	breast:
6	chr8:8959541..8961848-chr8:8965504..8968046,3	K562	blood:
7	chr8:8957551..8958415-chr8:8976890..8977866,7	MCF-7	breast:
8	chr8:8958264..8961787-chr8:8977169..8981598,5	MCF-7	breast:
9	chr8:8947247..8949756-chr8:8951102..8953097,2	K562	blood:
10	chr8:8957877..8959482-chr8:8962692..8965059,2	K562	blood:
11	chr8:8952654..8954720-chr8:9007801..9010554,2	MCF-7	breast:
12	chr8:8932442..8934749-chr8:8960194..8961935,2	K562	blood:
13	chr8:8953373..8954963-chr8:8956530..8958609,2	MCF-7	breast:
14	chr8:8958264..8961787-chr8:8977169..8981598,5	MCF-7	breast:
15	chr8:8957877..8959482-chr8:8962692..8965059,2	K562	blood:
16	chr8:8957620..8959986-chr8:9006127..9008421,2	MCF-7	breast:
17	chr8:8952658..8954471-chr8:8958046..8960043,2	K562	blood:
18	chr8:8972110..8975796-chr8:8979243..8981649,4	K562	blood:
19	chr8:8952889..8954018-chr8:8976969..8978020,7	MCF-7	breast:
20	chr8:8953143..8953782-chr8:8977053..8977605,2	MCF-7	breast:
21	chr8:8943472..8945578-chr8:8953667..8955933,2	MCF-7	breast:
22	chr8:8947247..8949756-chr8:8951102..8953097,2	K562	blood:
23	chr8:8970687..8972669-chr8:8973939..8976236,2	MCF-7	breast:
24	chr8:8951477..8953805-chr8:8956815..8960105,3	MCF-7	breast:
25	chr8:8946560..8948747-chr8:8951102..8952679,2	K562	blood:
26	chr8:8951477..8953805-chr8:8956815..8960105,3	MCF-7	breast:
27	chr8:8957486..8958446-chr8:8976798..8977528,3	MCF-7	breast:
28	chr8:8957486..8958446-chr8:8976798..8977528,3	MCF-7	breast:
29	chr8:8956289..8958577-chr8:8959776..8961706,2	MCF-7	breast:
30	chr8:8957551..8958415-chr8:8976890..8977866,7	MCF-7	breast:
31	chr8:8972110..8975796-chr8:8979243..8981649,4	K562	blood:
32	chr8:8940339..8943517-chr8:8945394..8948059,3	K562	blood:
33	chr8:8977055..8977905-chr8:9005326..9005945,2	MCF-7	breast:
34	chr8:8956289..8958577-chr8:8959776..8961706,2	MCF-7	breast:
35	chr8:8957551..8958379-chr8:8976890..8977592,2	MCF-7	breast:
36	chr8:8953373..8954963-chr8:8956530..8958609,2	MCF-7	breast:
37	chr8:8946560..8948747-chr8:8951102..8952679,2	K562	blood:
38	chr8:8953143..8953782-chr8:8977053..8977605,2	MCF-7	breast:
39	chr8:8930610..8933089-chr8:8960499..8962552,2	MCF-7	breast:
40	chr8:8938481..8944528-chr8:8944977..8948023,6	K562	blood:
41	chr8:8957551..8958379-chr8:8976890..8977592,2	MCF-7	breast:
42	chr8:8970687..8972669-chr8:8973939..8976236,2	MCF-7	breast:
43	chr8:8923128..8923969-chr8:8977242..8977816,2	MCF-7	breast:
44	chr8:8938481..8944528-chr8:8944977..8948023,6	K562	blood:
45	chr8:8935123..8936678-chr8:8962823..8964352,2	MCF-7	breast:
46	chr8:8959541..8961848-chr8:8965504..8968046,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERI1-4	chr8:8978041-8978955	NONHSAT124912
2	lnc-RP11-10A14.4.1-3	chr8:8947524-8947792	XLOC_006702
3	lnc-ERI1-4	chr8:8978473-8979430	NONHSAT124911
4	lnc-ERI1-4	chr8:8975900-8975953	NONHSAT124911
5	lnc-RP11-10A14.4.1-3	chr8:8957369-8957733	XLOC_006702

No data

Variant related genes	Relation type
ENSG00000173281	chromatin interactions
ENSG00000253426	chromatin interactions
PHLDA1	miRNA target sites
PHKA1	miRNA target sites

Extended variants
information (count: 1926 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:1926 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7008486	chr8:8944307-8944308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192700083	chr8:8944315-8944316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574758354	chr8:8944321-8944322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568026388	chr8:8944336-8944337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578190934	chr8:8944366-8944367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7008628	chr8:8944369-8944370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185003455	chr8:8944374-8944375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374556138	chr8:8944413-8944414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562633171	chr8:8944420-8944421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532132273	chr8:8944431-8944432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552028275	chr8:8944439-8944440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189115042	chr8:8944504-8944505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537028744	chr8:8944507-8944508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180977083	chr8:8944520-8944521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540205810	chr8:8944536-8944537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369674415	chr8:8944545-8944546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568375752	chr8:8944557-8944558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112233250	chr8:8944607-8944608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550336647	chr8:8944626-8944627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62494391	chr8:8944629-8944630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570527152	chr8:8944666-8944667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530984237	chr8:8944672-8944673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146069035	chr8:8944689-8944690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186152933	chr8:8944705-8944706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116162852	chr8:8944720-8944721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140017006	chr8:8944728-8944729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552753406	chr8:8944734-8944735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373105894	chr8:8944735-8944736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143552973	chr8:8944758-8944759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376501391	chr8:8944819-8944820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554776980	chr8:8944832-8944833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574956010	chr8:8944849-8944850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540616311	chr8:8944868-8944869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377592878	chr8:8944922-8944923	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs71537860	chr8:8944923-8944924	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs56044901	chr8:8944944-8944945	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs7009448	chr8:8944945-8944946	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs71201908	chr8:8944946-8944947	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564049694	chr8:8944967-8944968	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538010839	chr8:8944986-8944987	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs554435922	chr8:8944987-8944988	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs576769484	chr8:8944993-8944994	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545734648	chr8:8945006-8945007	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs189348156	chr8:8945018-8945019	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs369837336	chr8:8945033-8945034	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs539201493	chr8:8945035-8945036	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs373718045	chr8:8945066-8945067	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376738432	chr8:8945086-8945087	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs28700112	chr8:8945087-8945088	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs146763614	chr8:8945100-8945101	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
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
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
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
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
2	chr8:8932800-8945600	Weak transcription	Thymus	Thymus
3	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:8938000-8945200	Weak transcription	Placenta	Placenta
5	chr8:8938000-8951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:8938400-8945200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:8938400-8945200	Weak transcription	Primary B cells from cord blood	blood
8	chr8:8938400-8945200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:8940000-8945200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:8940000-8945200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:8940000-8945200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:8940000-8945200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:8940000-8945400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:8940000-8950000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:8940200-8945200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:8940400-8945000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:8940400-8945000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:8940400-8945000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:8940400-8945200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:8940400-8945200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:8940400-8945200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:8940400-8945200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:8940400-8945200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:8940400-8945200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:8940400-8945200	Weak transcription	Adipose Nuclei	Adipose
26	chr8:8940400-8945200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:8940400-8945200	Weak transcription	GM12878-XiMat	blood
28	chr8:8940400-8945200	Weak transcription	HMEC	breast
29	chr8:8940400-8945400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:8940400-8945400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:8940400-8945400	Weak transcription	HSMM	muscle
32	chr8:8940400-8945600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:8940400-8945800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:8940400-8946000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:8940400-8951600	Weak transcription	Fetal Heart	heart
36	chr8:8940600-8945200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:8940600-8945200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:8940600-8945400	Weak transcription	NHDF-Ad	bronchial
39	chr8:8940800-8945200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:8940800-8945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:8940800-8945400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:8941000-8945000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:8941000-8945000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:8941200-8945400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:8942200-8944800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:8942400-8945000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr8:8942600-8945200	Weak transcription	NH-A	brain
48	chr8:8942600-8946200	Weak transcription	A549	lung
49	chr8:8942800-8945000	Weak transcription	HUVEC	blood vessel
50	chr8:8942800-8945000	Weak transcription	NHEK	skin

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