Variant report

Variant	nsv612049
Chromosome Location	chr8:119641169-119726242
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:1)
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	chr17:57929154..57930703-chr8:119691999..119694960,2	MCF-7	breast:
2	chr8:119633322..119635580-chr8:119639291..119641315,2	MCF-7	breast:
3	chr8:119674405..119675238-chr8:119724363..119725275,3	MCF-7	breast:
4	chr8:119697639..119699212-chr8:119701195..119702893,2	MCF-7	breast:
5	chr8:119674640..119675239-chr8:120082658..120083255,2	MCF-7	breast:
6	chr8:119633762..119636095-chr8:119645506..119648099,2	MCF-7	breast:
7	chr8:119725898..119728518-chr8:119742374..119744080,2	K562	blood:
8	chr8:119724012..119726064-chr8:120134781..120136328,2	MCF-7	breast:
9	chr8:119697639..119699212-chr8:119701195..119702893,2	MCF-7	breast:
10	chr8:119686906..119688437-chr8:119689298..119692075,2	K562	blood:
11	chr8:119686906..119688437-chr8:119689298..119692075,2	K562	blood:
12	chr8:119674415..119675263-chr8:120082432..120082985,2	MCF-7	breast:
13	chr8:119674405..119675238-chr8:119724363..119725275,3	MCF-7	breast:
14	chr12:108959423..108959964-chr8:119710887..119711808,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC023590.1.1-2	chr8:119680689-119680840	NONHSAT128412

No data

Variant related genes	Relation type
ENSG00000177570	chromatin interactions

Extended variants
information (count: 1714 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:1714 , 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	rs1521154	chr8:119641169-119641170	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191207561	chr8:119641240-119641241	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs41423651	chr8:119641254-119641255	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147890362	chr8:119641282-119641283	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375603556	chr8:119641298-119641299	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139976317	chr8:119641315-119641316	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547739928	chr8:119641316-119641317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559252825	chr8:119641325-119641326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529914129	chr8:119641328-119641329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369240241	chr8:119641349-119641350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183010638	chr8:119641405-119641406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567752058	chr8:119641425-119641426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537996593	chr8:119641460-119641461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115990497	chr8:119641462-119641463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187964973	chr8:119641473-119641474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538925189	chr8:119641477-119641478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114717593	chr8:119641480-119641481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145493487	chr8:119641494-119641495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192917197	chr8:119641546-119641547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554324375	chr8:119641559-119641560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73709152	chr8:119641570-119641571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543574494	chr8:119641593-119641594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372883888	chr8:119641623-119641624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147664179	chr8:119641638-119641639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576932964	chr8:119641723-119641724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2003232	chr8:119641743-119641744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559607119	chr8:119641752-119641753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185004817	chr8:119641759-119641760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542004728	chr8:119641778-119641779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149146462	chr8:119641785-119641786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143379923	chr8:119641809-119641810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34515596	chr8:119641885-119641886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151330174	chr8:119641910-119641911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189163043	chr8:119641950-119641951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571280289	chr8:119641959-119641960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201281621	chr8:119642014-119642015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200358026	chr8:119642021-119642022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532388678	chr8:119642027-119642028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547735305	chr8:119642033-119642034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140530360	chr8:119642052-119642053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566910744	chr8:119642053-119642054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536592970	chr8:119642057-119642058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76091729	chr8:119642068-119642069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79567554	chr8:119642074-119642075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555125955	chr8:119642090-119642091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570287734	chr8:119642097-119642098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537112269	chr8:119642171-119642172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558699641	chr8:119642235-119642236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373535128	chr8:119642281-119642282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12176624	chr8:119642308-119642309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:144)

Disease	PMID	Source
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
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119635000-119650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:119635200-119645200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:119639800-119641600	Enhancers	GM12878-XiMat	blood
4	chr8:119640400-119641200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:119640400-119641400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:119641000-119641400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:119641000-119641600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:119641400-119646000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:119644800-119645000	Enhancers	HSMM	muscle
10	chr8:119644800-119645600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:119645000-119645200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:119645000-119645200	Enhancers	NH-A	brain
13	chr8:119645000-119645400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:119645000-119645600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:119645000-119646200	Weak transcription	HSMM	muscle
16	chr8:119645000-119648600	Enhancers	Osteobl	bone
17	chr8:119645200-119646200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:119645200-119646400	Weak transcription	NH-A	brain
19	chr8:119645200-119647000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:119645200-119648200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:119645200-119648800	Enhancers	NHDF-Ad	bronchial
22	chr8:119645400-119646400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:119645600-119646000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:119645600-119646000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:119645800-119646200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr8:119646000-119646200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:119646000-119646600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:119646000-119646800	Enhancers	HSMMtube	muscle
29	chr8:119646000-119647600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:119646000-119648600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:119646200-119647800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:119646200-119647800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:119646200-119648600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:119646200-119648600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:119646200-119648800	Enhancers	HSMM	muscle
36	chr8:119646400-119647000	Enhancers	HMEC	breast
37	chr8:119646400-119647200	Enhancers	NH-A	brain
38	chr8:119646400-119648400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:119646400-119648400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:119646400-119648400	Enhancers	NHEK	skin
41	chr8:119646400-119648800	Enhancers	NHLF	lung
42	chr8:119646400-119649000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:119646600-119647200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:119646800-119647600	Weak transcription	HSMMtube	muscle
45	chr8:119647000-119647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:119647000-119647400	Weak transcription	HMEC	breast
47	chr8:119647000-119648600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:119647200-119647400	Flanking Active TSS	NH-A	brain
49	chr8:119647200-119647600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:119647200-119648200	Enhancers	HUES6 Cell Line	embryonic stem cell

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