Variant report

Variant	nsv465757
Chromosome Location	chr8:107846295-107893477
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:107777004..107778114-chr8:107845048..107846673,7	MCF-7	breast:
2	chr8:107844267..107847790-chr8:107864374..107867207,3	MCF-7	breast:
3	chr8:107841111..107842679-chr8:107845386..107847419,2	MCF-7	breast:
4	chr8:107858278..107858789-chr8:108024820..108025365,2	MCF-7	breast:
5	chr8:107881925..107884632-chr8:107886674..107888381,2	MCF-7	breast:
6	chr8:107858176..107858696-chr8:108791740..108792288,2	MCF-7	breast:
7	chr8:107857881..107858812-chr8:108543880..108545134,4	MCF-7	breast:
8	chr8:107868665..107869314-chr8:108544200..108544991,2	MCF-7	breast:
9	chr8:107716434..107716966-chr8:107858248..107858913,2	MCF-7	breast:
10	chr8:107775413..107775971-chr8:107868475..107869338,2	MCF-7	breast:
11	chr8:107774998..107776443-chr8:107844921..107846410,11	MCF-7	breast:
12	chr8:107857830..107858766-chr8:107868427..107868948,2	MCF-7	breast:
13	chr8:107777116..107778171-chr8:107868404..107869398,4	MCF-7	breast:
14	chr8:107774909..107775928-chr8:107868574..107869326,4	MCF-7	breast:
15	chr8:107881925..107884632-chr8:107886674..107888381,2	MCF-7	breast:
16	chr8:106952193..106952705-chr8:107868814..107869363,2	MCF-7	breast:
17	chr8:107717278..107717963-chr8:107868271..107869380,4	K562	blood:
18	chr8:107857946..107858782-chr8:107868419..107869393,13	MCF-7	breast:
19	chr8:107716793..107717867-chr8:107868568..107869413,5	MCF-7	breast:
20	chr8:107717038..107717971-chr8:107868547..107869164,2	MCF-7	breast:
21	chr8:107776572..107779204-chr8:107860586..107863485,2	K562	blood:
22	chr8:107775088..107775609-chr8:107857855..107858702,2	MCF-7	breast:
23	chr8:107777209..107777910-chr8:107857636..107858793,3	MCF-7	breast:
24	chr8:107857692..107858790-chr8:108507689..108508327,3	MCF-7	breast:
25	chr8:107777184..107778060-chr8:107868481..107869205,4	MCF-7	breast:
26	chr8:107857946..107858782-chr8:107868419..107869393,13	MCF-7	breast:
27	chr8:107844267..107847790-chr8:107864374..107867207,3	MCF-7	breast:
28	chr8:107774648..107776061-chr8:107868448..107869328,4	K562	blood:
29	chr8:107858296..107858832-chr8:107965934..107966511,2	MCF-7	breast:
30	chr8:107857830..107858766-chr8:107868427..107868948,2	MCF-7	breast:
31	chr8:107777185..107778453-chr8:107844735..107846577,8	MCF-7	breast:

No data

Extended variants
information (count: 1732 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1732 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2449839	chr8:107846295-107846296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527826608	chr8:107846338-107846339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142624925	chr8:107846363-107846364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575013884	chr8:107846481-107846482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150947038	chr8:107846491-107846492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190959881	chr8:107846497-107846498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569068700	chr8:107846508-107846509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112712930	chr8:107846557-107846558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139867238	chr8:107846564-107846565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546032563	chr8:107846569-107846570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182144232	chr8:107846588-107846589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537728375	chr8:107846666-107846667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143319574	chr8:107846690-107846691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549587745	chr8:107846697-107846698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567795301	chr8:107846706-107846707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13265814	chr8:107846731-107846732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576818977	chr8:107846734-107846735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546982642	chr8:107846746-107846747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565718085	chr8:107846748-107846749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187977324	chr8:107846799-107846800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73702440	chr8:107846815-107846816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150476532	chr8:107846817-107846818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538410985	chr8:107846822-107846823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190843273	chr8:107846848-107846849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75328547	chr8:107846864-107846865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553004883	chr8:107846867-107846868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183061877	chr8:107846871-107846872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573269756	chr8:107846892-107846893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372247447	chr8:107846894-107846895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531613493	chr8:107846909-107846910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542341017	chr8:107846980-107846981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567458510	chr8:107847025-107847026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545894609	chr8:107847118-107847119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145418133	chr8:107847132-107847133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188652259	chr8:107847166-107847167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192762963	chr8:107847168-107847169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184826661	chr8:107847195-107847196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138822964	chr8:107847320-107847321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528956324	chr8:107847328-107847329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376009455	chr8:107847382-107847383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370017002	chr8:107847386-107847387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531179523	chr8:107847445-107847446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149181615	chr8:107847454-107847455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532911575	chr8:107847473-107847474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116926726	chr8:107847474-107847475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187847771	chr8:107847475-107847476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143345495	chr8:107847489-107847490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556791741	chr8:107847509-107847510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568622483	chr8:107847557-107847558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536065905	chr8:107847617-107847618	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:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107845400-107847400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr8:107847400-107847600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:107847400-107847800	Enhancers	HepG2	liver
4	chr8:107847400-107848200	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:107848200-107849400	Enhancers	Fetal Muscle Leg	muscle
6	chr8:107848600-107849400	Enhancers	HSMMtube	muscle
7	chr8:107848600-107849800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:107848600-107850000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:107852000-107852400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:107852000-107852400	Enhancers	NHDF-Ad	bronchial
11	chr8:107852000-107853600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:107852400-107865800	Weak transcription	NHDF-Ad	bronchial
13	chr8:107852600-107853000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:107863200-107863800	Enhancers	Primary T cells from cord blood	blood
15	chr8:107864200-107868400	Weak transcription	NHLF	lung
16	chr8:107865800-107866600	Enhancers	NHDF-Ad	bronchial
17	chr8:107866600-107868200	Weak transcription	NHDF-Ad	bronchial
18	chr8:107868200-107869800	Enhancers	NHDF-Ad	bronchial
19	chr8:107868400-107869600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:107868400-107869800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:107868400-107871200	Enhancers	NHLF	lung
22	chr8:107868600-107868800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:107868600-107869000	Enhancers	NHEK	skin
24	chr8:107868600-107869600	Enhancers	HSMMtube	muscle
25	chr8:107868600-107869800	Enhancers	A549	lung
26	chr8:107868600-107869800	Enhancers	NH-A	brain
27	chr8:107868600-107870200	Enhancers	HSMM	muscle
28	chr8:107868600-107870600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:107868800-107869400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:107868800-107869800	Enhancers	Osteobl	bone
31	chr8:107868800-107870200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:107869000-107869400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:107869000-107869400	Weak transcription	NHEK	skin
34	chr8:107869000-107870200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:107869000-107871400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:107869400-107869800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:107869400-107869800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:107869400-107870000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:107869400-107870400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:107869400-107870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:107869400-107870800	Enhancers	NHEK	skin
42	chr8:107869400-107871400	Enhancers	HMEC	breast
43	chr8:107869600-107870000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr8:107869600-107870000	Flanking Active TSS	HSMMtube	muscle
45	chr8:107869600-107870600	Enhancers	Aorta	Aorta
46	chr8:107869600-107870800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:107869600-107870800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:107869600-107870800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:107869600-107870800	Enhancers	Fetal Muscle Leg	muscle
50	chr8:107869800-107870000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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