Variant report

Variant	nsv891264
Chromosome Location	chr8:107823559-107852506
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:107775145..107775930-chr8:107845378..107846271,5	MCF-7	breast:
2	chr8:107775402..107776032-chr8:107844297..107844856,3	MCF-7	breast:
3	chr8:107777004..107778114-chr8:107845048..107846673,7	MCF-7	breast:
4	chr8:107716979..107717925-chr8:107843932..107844743,2	MCF-7	breast:
5	chr8:107774998..107776443-chr8:107844921..107846410,11	MCF-7	breast:
6	chr8:107841111..107842679-chr8:107845386..107847419,2	MCF-7	breast:
7	chr8:107777185..107778453-chr8:107844735..107846577,8	MCF-7	breast:
8	chr8:107774167..107775128-chr8:107845360..107846184,2	K562	blood:
9	chr8:107823015..107825825-chr8:107828969..107830508,2	MCF-7	breast:
10	chr8:107844267..107847790-chr8:107864374..107867207,3	MCF-7	breast:
11	chr8:107841111..107842679-chr8:107845386..107847419,2	MCF-7	breast:
12	chr8:107776853..107777682-chr8:107843674..107844419,2	MCF-7	breast:
13	chr8:107823015..107825825-chr8:107828969..107830508,2	MCF-7	breast:
14	chr20:46012813..46013377-chr8:107845402..107845925,2	MCF-7	breast:

No data

Extended variants
information (count: 969 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6469081	chr8:107823559-107823560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76145304	chr8:107823564-107823565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184701230	chr8:107823625-107823626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139517346	chr8:107823644-107823645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556290826	chr8:107823659-107823660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574748391	chr8:107823667-107823668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370242388	chr8:107823692-107823693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189059660	chr8:107823711-107823712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75906339	chr8:107823716-107823717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545577834	chr8:107823737-107823738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564162639	chr8:107823738-107823739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531317746	chr8:107823761-107823762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543373615	chr8:107823764-107823765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532498554	chr8:107823795-107823796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530309987	chr8:107823813-107823814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548508034	chr8:107823878-107823879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566716739	chr8:107823886-107823887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191873616	chr8:107823900-107823901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552496641	chr8:107823909-107823910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570882811	chr8:107823955-107823956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547069796	chr8:107823959-107823960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184108858	chr8:107824029-107824030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548663302	chr8:107824042-107824043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556567576	chr8:107824159-107824160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112244525	chr8:107824165-107824166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568493253	chr8:107824166-107824167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12548917	chr8:107824205-107824206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554148372	chr8:107824212-107824213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572375037	chr8:107824216-107824217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147712354	chr8:107824252-107824253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557684610	chr8:107824365-107824366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576060179	chr8:107824389-107824390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543184056	chr8:107824393-107824394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189438703	chr8:107824418-107824419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573345880	chr8:107824422-107824423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142658924	chr8:107824439-107824440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539098539	chr8:107824463-107824464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527983606	chr8:107824466-107824467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552703449	chr8:107824476-107824477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564544616	chr8:107824484-107824485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180985378	chr8:107824519-107824520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550331943	chr8:107824531-107824532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568456204	chr8:107824542-107824543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185762451	chr8:107824554-107824555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547822214	chr8:107824566-107824567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565932074	chr8:107824567-107824568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572976320	chr8:107824576-107824577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542033097	chr8:107824620-107824621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74957483	chr8:107824636-107824637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76160297	chr8:107824637-107824638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107821200-107825400	Weak transcription	Fetal Heart	heart
2	chr8:107822800-107826000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:107823400-107823800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:107823800-107824000	Enhancers	Spleen	Spleen
5	chr8:107823800-107824800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:107824800-107825000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr8:107825000-107825400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:107825400-107825800	Enhancers	Fetal Heart	heart
9	chr8:107825400-107825800	Enhancers	Fetal Muscle Leg	muscle
10	chr8:107825400-107826400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:107828600-107832600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:107829400-107829800	Enhancers	Fetal Muscle Leg	muscle
13	chr8:107834000-107837200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:107834600-107837200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:107835000-107835400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:107835000-107835400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:107835000-107835600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:107835400-107835600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:107835400-107836600	Enhancers	Primary hematopoietic stem cells	blood
20	chr8:107835600-107836400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:107836000-107836600	Enhancers	HepG2	liver
22	chr8:107836000-107836600	Enhancers	K562	blood
23	chr8:107836000-107836800	Enhancers	Fetal Heart	heart
24	chr8:107836400-107836600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:107836600-107837600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:107836600-107839400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:107837200-107839000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:107837200-107839400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:107837600-107840800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:107839000-107840000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:107839000-107841400	Enhancers	HUVEC	blood vessel
32	chr8:107839000-107842400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:107839400-107840800	Enhancers	Primary hematopoietic stem cells	blood
34	chr8:107839400-107842400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:107839600-107839800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:107839800-107840000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:107839800-107840800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:107840000-107840600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:107840600-107840800	Enhancers	Fetal Kidney	kidney
40	chr8:107840600-107841400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr8:107840600-107841600	Enhancers	Fetal Muscle Leg	muscle
42	chr8:107840800-107841200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:107840800-107841200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:107840800-107841200	Enhancers	Fetal Stomach	stomach
45	chr8:107840800-107841400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr8:107840800-107841400	Enhancers	Osteobl	bone
47	chr8:107840800-107845400	Weak transcription	Fetal Kidney	kidney
48	chr8:107841000-107841400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:107841000-107841400	Enhancers	Fetal Lung	lung
50	chr8:107841000-107841400	Enhancers	HSMMtube	muscle

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