Variant report

Variant	nsv933504
Chromosome Location	chr8:100443818-100493791
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:25)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:100486979..100489783-chr8:100490347..100493276,2	MCF-7	breast:
2	chr8:100459116..100461634-chr8:100473693..100476496,2	MCF-7	breast:
3	chr8:100478649..100480256-chr8:100490609..100493235,2	K562	blood:
4	chr8:100440991..100443912-chr8:100444936..100447073,2	K562	blood:
5	chr8:100459116..100461634-chr8:100473693..100476496,2	MCF-7	breast:
6	chr8:100433911..100436132-chr8:100443954..100446728,2	MCF-7	breast:
7	chr8:100450418..100452655-chr8:100468623..100470594,2	K562	blood:
8	chr8:100450418..100452655-chr8:100468623..100470594,2	K562	blood:
9	chr8:100444521..100447261-chr8:100451811..100454572,2	K562	blood:
10	chr8:100481937..100483971-chr8:100485663..100487345,2	MCF-7	breast:
11	chr8:100481937..100483971-chr8:100485663..100487345,2	MCF-7	breast:
12	chr8:100446457..100448705-chr8:100452303..100454973,2	MCF-7	breast:
13	chr8:100444521..100447261-chr8:100451811..100454572,2	K562	blood:
14	chr1:115265195..115267941-chr8:100452133..100454558,2	MCF-7	breast:
15	chr8:100485436..100487741-chr8:100494328..100496741,2	K562	blood:
16	chr8:100474939..100477291-chr8:100497932..100499895,2	MCF-7	breast:
17	chr8:100440991..100443912-chr8:100444936..100447073,2	K562	blood:
18	chr8:100446457..100448705-chr8:100452303..100454973,2	MCF-7	breast:
19	chr8:100478649..100480256-chr8:100490609..100493235,2	K562	blood:
20	chr8:100476013..100478783-chr8:100496071..100498835,2	MCF-7	breast:
21	chr8:100486979..100489783-chr8:100490347..100493276,2	MCF-7	breast:
22	chr16:23607401..23609847-chr8:100473755..100475258,2	MCF-7	breast:
23	chr8:100464584..100466784-chr8:100489016..100491472,2	MCF-7	breast:
24	chr8:100492530..100494149-chr8:100495886..100498811,2	MCF-7	breast:
25	chr8:100464584..100466784-chr8:100489016..100491472,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSR2-7	chr8:100443749-100443892	NONHSAT127953
2	lnc-OSR2-7	chr8:100454629-100454639	NONHSAT127953

No data

Variant related genes	Relation type
ENSG00000009307	chromatin interactions
ENSG00000004779	chromatin interactions

Extended variants
information (count: 1606 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1606 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144920754	chr8:100443832-100443833	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs528478636	chr8:100443862-100443863	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs61753722	chr8:100443885-100443886	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140090983	chr8:100443886-100443887	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs191511518	chr8:100443903-100443904	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369681904	chr8:100443919-100443920	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570299145	chr8:100443966-100443967	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541242488	chr8:100444058-100444059	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3103704	chr8:100444076-100444077	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs546488426	chr8:100444129-100444130	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534571359	chr8:100444135-100444136	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567005122	chr8:100444138-100444139	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566606683	chr8:100444200-100444201	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3134187	chr8:100444203-100444204	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555032841	chr8:100444378-100444379	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182507625	chr8:100444404-100444405	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187204459	chr8:100444435-100444436	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193099034	chr8:100444482-100444483	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370546028	chr8:100444545-100444546	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577508393	chr8:100444580-100444581	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546558626	chr8:100444587-100444588	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114941359	chr8:100444633-100444634	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573412466	chr8:100444645-100444646	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185357481	chr8:100444664-100444665	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542230543	chr8:100444712-100444713	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542668802	chr8:100444732-100444733	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59179040	chr8:100444795-100444796	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561900586	chr8:100444838-100444839	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530949146	chr8:100444839-100444840	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562473572	chr8:100444845-100444846	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550641027	chr8:100444846-100444847	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190557537	chr8:100444870-100444871	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532967461	chr8:100444968-100444969	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193136760	chr8:100444976-100444977	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566778208	chr8:100445052-100445053	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529138998	chr8:100445084-100445085	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184767901	chr8:100445094-100445095	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117124279	chr8:100445140-100445141	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576540566	chr8:100445242-100445243	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146212583	chr8:100445254-100445255	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557875711	chr8:100445275-100445276	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551718248	chr8:100445282-100445283	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540042690	chr8:100445305-100445306	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188051214	chr8:100445311-100445312	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180865078	chr8:100445316-100445317	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542145505	chr8:100445368-100445369	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183946081	chr8:100445439-100445440	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575233062	chr8:100445539-100445540	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544342244	chr8:100445548-100445549	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564241915	chr8:100445672-100445673	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100393600-100445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:100397800-100445000	Weak transcription	HSMM	muscle
3	chr8:100399800-100445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:100399800-100498400	Weak transcription	Thymus	Thymus
5	chr8:100404400-100444600	Weak transcription	Placenta	Placenta
6	chr8:100416200-100445200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:100419600-100463600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:100421000-100448400	Weak transcription	NH-A	brain
9	chr8:100421600-100472800	Weak transcription	Aorta	Aorta
10	chr8:100421800-100444400	Weak transcription	NHDF-Ad	bronchial
11	chr8:100426000-100466200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:100427000-100444800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:100427200-100444400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:100427400-100444400	Weak transcription	Adipose Nuclei	Adipose
15	chr8:100427400-100445000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:100427800-100444600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:100428200-100444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:100428400-100444000	Weak transcription	Primary T cells from cord blood	blood
19	chr8:100428400-100445000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:100428600-100444600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:100428600-100456400	Weak transcription	Fetal Stomach	stomach
22	chr8:100428600-100466600	Weak transcription	Spleen	Spleen
23	chr8:100429000-100445200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:100429400-100445200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:100430400-100445200	Weak transcription	HSMMtube	muscle
26	chr8:100430600-100444400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:100431400-100445200	Weak transcription	Ovary	ovary
28	chr8:100431600-100444400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:100434400-100445200	Weak transcription	Left Ventricle	heart
30	chr8:100435600-100445000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr8:100440000-100444400	Weak transcription	Liver	Liver
32	chr8:100440600-100445200	Weak transcription	NHLF	lung
33	chr8:100440600-100448400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:100442000-100445000	Weak transcription	Fetal Kidney	kidney
35	chr8:100442000-100445200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:100442200-100444400	Weak transcription	Primary B cells from cord blood	blood
37	chr8:100442200-100444400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:100442200-100445800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
39	chr8:100442400-100444600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:100442400-100445200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr8:100443400-100444200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:100443400-100445000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:100443400-100445200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:100443400-100445200	Weak transcription	Fetal Intestine Small	intestine
45	chr8:100443400-100447400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:100443600-100444400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr8:100443600-100445800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:100443800-100445000	Weak transcription	Osteobl	bone
49	chr8:100443800-100447200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:100443800-100447400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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