Variant report

Variant	nsv465756
Chromosome Location	chr8:107838892-107872577
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:107857692..107858790-chr8:108507689..108508327,3	MCF-7	breast:
2	chr8:107858176..107858696-chr8:108791740..108792288,2	MCF-7	breast:
3	chr8:107774909..107775928-chr8:107868574..107869326,4	MCF-7	breast:
4	chr8:107717038..107717971-chr8:107868547..107869164,2	MCF-7	breast:
5	chr8:107841111..107842679-chr8:107845386..107847419,2	MCF-7	breast:
6	chr8:107775088..107775609-chr8:107857855..107858702,2	MCF-7	breast:
7	chr8:107775145..107775930-chr8:107845378..107846271,5	MCF-7	breast:
8	chr8:106952193..106952705-chr8:107868814..107869363,2	MCF-7	breast:
9	chr8:107844267..107847790-chr8:107864374..107867207,3	MCF-7	breast:
10	chr8:107777004..107778114-chr8:107845048..107846673,7	MCF-7	breast:
11	chr8:107716979..107717925-chr8:107843932..107844743,2	MCF-7	breast:
12	chr8:107857830..107858766-chr8:107868427..107868948,2	MCF-7	breast:
13	chr8:107775413..107775971-chr8:107868475..107869338,2	MCF-7	breast:
14	chr8:107716793..107717867-chr8:107868568..107869413,5	MCF-7	breast:
15	chr20:46012813..46013377-chr8:107845402..107845925,2	MCF-7	breast:
16	chr8:107857946..107858782-chr8:107868419..107869393,13	MCF-7	breast:
17	chr8:107774648..107776061-chr8:107868448..107869328,4	K562	blood:
18	chr8:107777185..107778453-chr8:107844735..107846577,8	MCF-7	breast:
19	chr8:107777116..107778171-chr8:107868404..107869398,4	MCF-7	breast:
20	chr8:107857881..107858812-chr8:108543880..108545134,4	MCF-7	breast:
21	chr8:107776572..107779204-chr8:107860586..107863485,2	K562	blood:
22	chr8:107858278..107858789-chr8:108024820..108025365,2	MCF-7	breast:
23	chr8:107858296..107858832-chr8:107965934..107966511,2	MCF-7	breast:
24	chr8:107857830..107858766-chr8:107868427..107868948,2	MCF-7	breast:
25	chr8:107774998..107776443-chr8:107844921..107846410,11	MCF-7	breast:
26	chr8:107841111..107842679-chr8:107845386..107847419,2	MCF-7	breast:
27	chr8:107776853..107777682-chr8:107843674..107844419,2	MCF-7	breast:
28	chr8:107777184..107778060-chr8:107868481..107869205,4	MCF-7	breast:
29	chr8:107844267..107847790-chr8:107864374..107867207,3	MCF-7	breast:
30	chr8:107775402..107776032-chr8:107844297..107844856,3	MCF-7	breast:
31	chr8:107868665..107869314-chr8:108544200..108544991,2	MCF-7	breast:
32	chr8:107777209..107777910-chr8:107857636..107858793,3	MCF-7	breast:
33	chr8:107774167..107775128-chr8:107845360..107846184,2	K562	blood:
34	chr8:107717278..107717963-chr8:107868271..107869380,4	K562	blood:
35	chr8:107716434..107716966-chr8:107858248..107858913,2	MCF-7	breast:
36	chr8:107857946..107858782-chr8:107868419..107869393,13	MCF-7	breast:

No data

Extended variants
information (count: 1261 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1261 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2981213	chr8:107838892-107838893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182525560	chr8:107838953-107838954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544173101	chr8:107838972-107838973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114632525	chr8:107838985-107838986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117697921	chr8:107839026-107839027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138436785	chr8:107839053-107839054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77836616	chr8:107839082-107839083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561250271	chr8:107839102-107839103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528622389	chr8:107839106-107839107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs16875159	chr8:107839128-107839129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147977759	chr8:107839166-107839167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538778924	chr8:107839182-107839183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550940077	chr8:107839207-107839208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187251429	chr8:107839253-107839254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192168914	chr8:107839269-107839270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140829829	chr8:107839281-107839282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375947163	chr8:107839285-107839286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370331562	chr8:107839320-107839321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16875160	chr8:107839322-107839323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558816084	chr8:107839326-107839327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576997040	chr8:107839330-107839331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16875162	chr8:107839337-107839338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183480833	chr8:107839341-107839342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530265572	chr8:107839369-107839370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541819078	chr8:107839399-107839400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17316267	chr8:107839400-107839401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185834992	chr8:107839412-107839413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540408911	chr8:107839467-107839468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570226091	chr8:107839477-107839478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371310463	chr8:107839492-107839493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2981212	chr8:107839505-107839506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190294117	chr8:107839527-107839528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139024738	chr8:107839537-107839538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530005782	chr8:107839570-107839571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551606522	chr8:107839589-107839590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182455393	chr8:107839625-107839626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548582682	chr8:107839663-107839664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2981211	chr8:107839692-107839693	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs57307676	chr8:107839699-107839700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558775316	chr8:107839714-107839715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570704403	chr8:107839716-107839717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117308362	chr8:107839839-107839840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555947381	chr8:107839865-107839866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574491760	chr8:107839900-107839901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186784893	chr8:107839928-107839929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192391875	chr8:107839959-107839960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573188137	chr8:107839961-107839962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182713833	chr8:107839965-107839966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565136404	chr8:107839991-107839992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532554605	chr8:107839997-107839998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Gastric cancer	17908304	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Multiple myeloma	17550852	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107836600-107839400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:107837200-107839000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:107837200-107839400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:107837600-107840800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:107839000-107840000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:107839000-107841400	Enhancers	HUVEC	blood vessel
7	chr8:107839000-107842400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:107839400-107840800	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:107839400-107842400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:107839600-107839800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:107839800-107840000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:107839800-107840800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:107840000-107840600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:107840600-107840800	Enhancers	Fetal Kidney	kidney
15	chr8:107840600-107841400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:107840600-107841600	Enhancers	Fetal Muscle Leg	muscle
17	chr8:107840800-107841200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:107840800-107841200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:107840800-107841200	Enhancers	Fetal Stomach	stomach
20	chr8:107840800-107841400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:107840800-107841400	Enhancers	Osteobl	bone
22	chr8:107840800-107845400	Weak transcription	Fetal Kidney	kidney
23	chr8:107841000-107841400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:107841000-107841400	Enhancers	Fetal Lung	lung
25	chr8:107841000-107841400	Enhancers	HSMMtube	muscle
26	chr8:107841200-107842000	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:107841200-107844200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:107841400-107844000	Weak transcription	Fetal Lung	lung
29	chr8:107841400-107844000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:107844000-107844400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:107844000-107845400	Enhancers	Fetal Lung	lung
32	chr8:107844200-107845600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:107844400-107845200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:107845200-107845400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr8:107845400-107845600	Enhancers	Fetal Kidney	kidney
36	chr8:107845400-107847400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:107847400-107847600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:107847400-107847800	Enhancers	HepG2	liver
39	chr8:107847400-107848200	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:107848200-107849400	Enhancers	Fetal Muscle Leg	muscle
41	chr8:107848600-107849400	Enhancers	HSMMtube	muscle
42	chr8:107848600-107849800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:107848600-107850000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:107852000-107852400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:107852000-107852400	Enhancers	NHDF-Ad	bronchial
46	chr8:107852000-107853600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:107852400-107865800	Weak transcription	NHDF-Ad	bronchial
48	chr8:107852600-107853000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:107863200-107863800	Enhancers	Primary T cells from cord blood	blood
50	chr8:107864200-107868400	Weak transcription	NHLF	lung

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