Variant report

Variant	nsv891444
Chromosome Location	chr8:130024642-130130604
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:32)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130066632..130068907-chr8:130069762..130071490,2	K562	blood:
2	chr8:130121186..130123964-chr8:130124559..130126395,2	MCF-7	breast:
3	chr8:130086112..130089044-chr8:130090593..130093042,2	K562	blood:
4	chr8:130097867..130099434-chr8:130102615..130104893,2	K562	blood:
5	chr8:130100287..130102038-chr8:130102754..130104834,2	K562	blood:
6	chr8:130121271..130122807-chr8:130124451..130126288,2	MCF-7	breast:
7	chr8:130101158..130103152-chr8:130105792..130107982,2	K562	blood:
8	chr8:130121271..130122807-chr8:130124451..130126288,2	MCF-7	breast:
9	chr8:130035973..130036826-chr8:130573071..130574051,2	MCF-7	breast:
10	chr8:130061308..130064067-chr8:130069803..130071790,2	MCF-7	breast:
11	chr8:130088040..130090042-chr8:130091591..130093443,2	MCF-7	breast:
12	chr8:130066357..130068020-chr8:130070091..130072052,2	K562	blood:
13	chr8:130086112..130089044-chr8:130090593..130093042,2	K562	blood:
14	chr8:130088040..130090042-chr8:130091591..130093443,2	MCF-7	breast:
15	chr8:130080974..130082806-chr8:130092451..130094799,2	K562	blood:
16	chr8:130056568..130058887-chr8:130060600..130062336,2	K562	blood:
17	chr8:130080974..130082806-chr8:130092451..130094799,2	K562	blood:
18	chr8:130128975..130131207-chr8:130134226..130136520,2	K562	blood:
19	chr8:130061308..130064067-chr8:130069803..130071790,2	MCF-7	breast:
20	chr8:130089152..130091108-chr8:130093655..130097035,3	K562	blood:
21	chr8:130056568..130058887-chr8:130060600..130062336,2	K562	blood:
22	chr8:130066632..130068907-chr8:130069762..130071490,2	K562	blood:
23	chr8:130070425..130072160-chr8:130072184..130073752,2	MCF-7	breast:
24	chr8:130097867..130099434-chr8:130102615..130104893,2	K562	blood:
25	chr8:130064582..130065481-chr8:130599333..130599837,2	MCF-7	breast:
26	chr8:130066357..130068020-chr8:130070091..130072052,2	K562	blood:
27	chr8:130070425..130072160-chr8:130072184..130073752,2	MCF-7	breast:
28	chr8:130101158..130103152-chr8:130105792..130107982,2	K562	blood:
29	chr8:130100287..130102038-chr8:130102754..130104834,2	K562	blood:
30	chr8:130089152..130091108-chr8:130093655..130097035,3	K562	blood:
31	chr8:130121186..130123964-chr8:130124559..130126395,2	MCF-7	breast:
32	chr8:128746070..128748632-chr8:130047093..130048841,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYC-12	chr8:130084952-130085449	NONHSAT129105
2	lnc-MYC-12	chr8:130072674-130073253	NONHSAT129105
3	lnc-MYC-12	chr8:130039860-130040272	NONHSAT129105

No data

Variant related genes	Relation type
ENSG00000136997	chromatin interactions
ENSG00000249375	chromatin interactions

Extended variants
information (count: 3943 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:3943 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6470677	chr8:130024642-130024643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187208365	chr8:130024714-130024715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191999264	chr8:130024752-130024753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553193214	chr8:130024775-130024776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182789236	chr8:130024824-130024825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545171551	chr8:130024842-130024843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563364275	chr8:130024873-130024874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6470678	chr8:130024900-130024901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs17244256	chr8:130024945-130024946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557616579	chr8:130024975-130024976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10103413	chr8:130024986-130024987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528421313	chr8:130025003-130025004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546556664	chr8:130025036-130025037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565175463	chr8:130025040-130025041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571464053	chr8:130025041-130025042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538444042	chr8:130025057-130025058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550319149	chr8:130025058-130025059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569010772	chr8:130025097-130025098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76751518	chr8:130025123-130025124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201246335	chr8:130025126-130025127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6470679	chr8:130025152-130025153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186810961	chr8:130025154-130025155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114922313	chr8:130025181-130025182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57582482	chr8:130025182-130025183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573764381	chr8:130025196-130025197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558983525	chr8:130025216-130025217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577407942	chr8:130025219-130025220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372918665	chr8:130025231-130025232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4644199	chr8:130025257-130025258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371843397	chr8:130025277-130025278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559538195	chr8:130025288-130025289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563025920	chr8:130025294-130025295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190011867	chr8:130025391-130025392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182641937	chr8:130025392-130025393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560967431	chr8:130025393-130025394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187071596	chr8:130025399-130025400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193052023	chr8:130025442-130025443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142676735	chr8:130025514-130025515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545049779	chr8:130025515-130025516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532224982	chr8:130025519-130025520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537236367	chr8:130025525-130025526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550384848	chr8:130025572-130025573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151018164	chr8:130025628-130025629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530171060	chr8:130025728-130025729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12675236	chr8:130025759-130025760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566904507	chr8:130025765-130025766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533931225	chr8:130025815-130025816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558872076	chr8:130025828-130025829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571061684	chr8:130025830-130025831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538504884	chr8:130025848-130025849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130019800-130028200	Weak transcription	Dnd41	blood
2	chr8:130021800-130027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130025200-130035800	Weak transcription	Fetal Thymus	thymus
4	chr8:130028200-130031800	Strong transcription	Dnd41	blood
5	chr8:130031800-130035800	Weak transcription	Dnd41	blood
6	chr8:130035800-130036400	ZNF genes & repeats	Fetal Thymus	thymus
7	chr8:130035800-130036400	ZNF genes & repeats	Dnd41	blood
8	chr8:130036000-130036200	ZNF genes & repeats	Thymus	Thymus
9	chr8:130036200-130036600	Weak transcription	Thymus	Thymus
10	chr8:130036400-130037000	Weak transcription	Dnd41	blood
11	chr8:130036400-130051000	Weak transcription	Fetal Thymus	thymus
12	chr8:130037000-130038200	Genic enhancers	Dnd41	blood
13	chr8:130038200-130041600	Strong transcription	Dnd41	blood
14	chr8:130039200-130040800	Enhancers	Psoas Muscle	Psoas
15	chr8:130040400-130040600	Enhancers	K562	blood
16	chr8:130040400-130041400	Weak transcription	Thymus	Thymus
17	chr8:130040600-130044200	Weak transcription	K562	blood
18	chr8:130041000-130041400	Enhancers	Right Atrium	heart
19	chr8:130041000-130041400	Enhancers	Right Ventricle	heart
20	chr8:130041400-130042600	Weak transcription	Right Atrium	heart
21	chr8:130041600-130045400	Weak transcription	Dnd41	blood
22	chr8:130042600-130042800	Enhancers	Right Atrium	heart
23	chr8:130042800-130047400	Weak transcription	Right Atrium	heart
24	chr8:130043800-130044600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:130044200-130044800	Enhancers	K562	blood
26	chr8:130044800-130045400	Flanking Active TSS	K562	blood
27	chr8:130045400-130046000	Enhancers	K562	blood
28	chr8:130045400-130048000	Strong transcription	Dnd41	blood
29	chr8:130046000-130046400	Enhancers	NHEK	skin
30	chr8:130046400-130046800	Weak transcription	NHEK	skin
31	chr8:130046800-130047200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr8:130046800-130047400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:130046800-130047800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:130046800-130047800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:130046800-130047800	Enhancers	NHEK	skin
36	chr8:130047000-130047400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:130047000-130047600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:130047000-130047600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:130047000-130047600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:130047000-130047800	Enhancers	HMEC	breast
41	chr8:130047200-130047600	Enhancers	A549	lung
42	chr8:130047200-130047800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:130047200-130048000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:130047400-130047600	Enhancers	Right Atrium	heart
45	chr8:130047400-130047800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:130047400-130047800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr8:130048000-130054600	Weak transcription	Dnd41	blood
48	chr8:130054600-130055400	Enhancers	Dnd41	blood
49	chr8:130055400-130060600	Weak transcription	Dnd41	blood
50	chr8:130058800-130060800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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