Variant report

Variant	nsv1028916
Chromosome Location	chr8:107925350-107974654
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:107936207..107938008-chr8:107942001..107944516,2	MCF-7	breast:
2	chr8:107858296..107858832-chr8:107965934..107966511,2	MCF-7	breast:
3	chr8:107942969..107944882-chr8:107947397..107950268,2	MCF-7	breast:
4	chr8:107948303..107950286-chr8:107953514..107955561,2	K562	blood:
5	chr8:107963274..107965164-chr8:107984156..107985885,2	K562	blood:
6	chr8:107927132..107929876-chr8:107934967..107937807,3	MCF-7	breast:
7	chr8:107948303..107950286-chr8:107953514..107955561,2	K562	blood:
8	chr8:107936207..107938008-chr8:107942001..107944516,2	MCF-7	breast:
9	chr8:107927132..107929876-chr8:107934967..107937807,3	MCF-7	breast:
10	chr8:107942969..107944882-chr8:107947397..107950268,2	MCF-7	breast:

No data

Extended variants
information (count: 1867 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1867 , 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	rs532985808	chr8:107925370-107925371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540746396	chr8:107925399-107925400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368776875	chr8:107925408-107925409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188992434	chr8:107925426-107925427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548573897	chr8:107925494-107925495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146296842	chr8:107925507-107925508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560264374	chr8:107925537-107925538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368611494	chr8:107925548-107925549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371158938	chr8:107925596-107925597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4734140	chr8:107925614-107925615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs139267657	chr8:107925615-107925616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs118012672	chr8:107925620-107925621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572763765	chr8:107925632-107925633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570166071	chr8:107925686-107925687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537501390	chr8:107925715-107925716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4262303	chr8:107925723-107925724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4734141	chr8:107925727-107925728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112086001	chr8:107925734-107925735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181431454	chr8:107925779-107925780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553023726	chr8:107925787-107925788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555375417	chr8:107925810-107925811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575242157	chr8:107925821-107925822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16875276	chr8:107925823-107925824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550167002	chr8:107925851-107925852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544829066	chr8:107925901-107925902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73699622	chr8:107925912-107925913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145640298	chr8:107925922-107925923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542400822	chr8:107925970-107925971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186349902	chr8:107925976-107925977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528103349	chr8:107925981-107925982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540105456	chr8:107925993-107925994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560212720	chr8:107926060-107926061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546561279	chr8:107926098-107926099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148443252	chr8:107926140-107926141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550585399	chr8:107926146-107926147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552013072	chr8:107926151-107926152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55634089	chr8:107926177-107926178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55899503	chr8:107926200-107926201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56137319	chr8:107926201-107926202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200926385	chr8:107926203-107926204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529212251	chr8:107926204-107926205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547921768	chr8:107926212-107926213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55761243	chr8:107926216-107926217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555607043	chr8:107926217-107926218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56121916	chr8:107926219-107926220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555258976	chr8:107926226-107926227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567731513	chr8:107926253-107926254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534721939	chr8:107926289-107926290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553300586	chr8:107926325-107926326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77709424	chr8:107926332-107926333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107913600-107929600	Weak transcription	Aorta	Aorta
2	chr8:107927400-107928800	Enhancers	Fetal Intestine Large	intestine
3	chr8:107927400-107929600	Enhancers	Fetal Intestine Small	intestine
4	chr8:107928000-107928800	Enhancers	Duodenum Mucosa	Duodenum
5	chr8:107928000-107929000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr8:107928200-107928800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr8:107928800-107939000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:107929000-107942200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:107929600-107930000	Enhancers	Aorta	Aorta
10	chr8:107929600-107934000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:107930000-107936800	Weak transcription	Aorta	Aorta
12	chr8:107932000-107932400	Active TSS	Osteobl	bone
13	chr8:107932400-107936200	Weak transcription	Osteobl	bone
14	chr8:107933600-107939600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:107934000-107934400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:107934000-107934400	Enhancers	Fetal Intestine Small	intestine
17	chr8:107934000-107934600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:107934000-107935600	Enhancers	NHLF	lung
19	chr8:107934000-107936000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:107934200-107934400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:107934200-107934400	Enhancers	Psoas Muscle	Psoas
22	chr8:107934400-107934600	Enhancers	NH-A	brain
23	chr8:107934400-107938000	Weak transcription	Psoas Muscle	Psoas
24	chr8:107934400-107939800	Enhancers	NHDF-Ad	bronchial
25	chr8:107935600-107936000	Weak transcription	NHLF	lung
26	chr8:107935600-107937200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:107935600-107938800	Enhancers	HSMMtube	muscle
28	chr8:107936000-107936400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:107936000-107936800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:107936000-107937200	Enhancers	HSMM	muscle
31	chr8:107936000-107938200	Enhancers	NHLF	lung
32	chr8:107936200-107936600	Enhancers	Osteobl	bone
33	chr8:107936200-107936800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:107936200-107937800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:107936200-107938200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:107936400-107937200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:107936400-107937600	Enhancers	Fetal Muscle Leg	muscle
38	chr8:107936400-107937800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:107936600-107936800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:107936600-107937000	Flanking Active TSS	Osteobl	bone
41	chr8:107936600-107937800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:107936600-107938200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:107936600-107938200	Enhancers	NH-A	brain
44	chr8:107936800-107937000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:107936800-107937800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr8:107936800-107938400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr8:107936800-107938600	Enhancers	Aorta	Aorta
48	chr8:107937000-107937400	Enhancers	Osteobl	bone
49	chr8:107937000-107937600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:107937000-107938200	Enhancers	Colon Smooth Muscle	Colon

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