Variant report

Variant	nsv891399
Chromosome Location	chr8:116037798-116295809
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:66)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:116197204..116199535-chr8:116202002..116204083,2	MCF-7	breast:
2	chr8:116293249..116295403-chr8:116296761..116300178,3	MCF-7	breast:
3	chr8:116127927..116129475-chr8:116129633..116132436,2	MCF-7	breast:
4	chr8:116211366..116214115-chr8:116220213..116221723,2	MCF-7	breast:
5	chr8:116197204..116199535-chr8:116202002..116204083,2	MCF-7	breast:
6	chr8:116214469..116216744-chr8:116223600..116226019,2	MCF-7	breast:
7	chr8:116262983..116265572-chr8:116273633..116276447,2	MCF-7	breast:
8	chr8:116146174..116148539-chr8:116152246..116154222,2	MCF-7	breast:
9	chr8:116277489..116279822-chr8:116283595..116286223,2	K562	blood:
10	chr8:116037155..116040113-chr8:116065059..116067107,2	MCF-7	breast:
11	chr8:116190725..116192914-chr8:116198284..116200263,2	MCF-7	breast:
12	chr8:116118717..116120924-chr8:116130705..116133037,2	MCF-7	breast:
13	chr8:116247006..116249892-chr8:116254093..116255639,2	MCF-7	breast:
14	chr8:116277489..116279822-chr8:116283595..116286223,2	K562	blood:
15	chr8:116189123..116190832-chr8:116191292..116193728,2	K562	blood:
16	chr8:116250097..116251788-chr8:116254708..116257599,2	K562	blood:
17	chr8:116211366..116214115-chr8:116220213..116221723,2	MCF-7	breast:
18	chr8:115858350..115859560-chr8:116127592..116129068,6	MCF-7	breast:
19	chr8:115857407..115858047-chr8:116088791..116089518,2	MCF-7	breast:
20	chr8:116262983..116265572-chr8:116273633..116276447,2	MCF-7	breast:
21	chr8:115858302..115859090-chr8:116110965..116111686,2	MCF-7	breast:
22	chr8:115858972..115859777-chr8:116088522..116089323,3	MCF-7	breast:
23	chr8:116139667..116140765-chr8:116286061..116287283,6	MCF-7	breast:
24	chr8:116189123..116190832-chr8:116191292..116193728,2	K562	blood:
25	chr8:116190725..116192914-chr8:116198284..116200263,2	MCF-7	breast:
26	chr8:116139667..116140765-chr8:116286061..116287283,6	MCF-7	breast:
27	chr8:116278892..116281604-chr8:116286464..116288900,3	K562	blood:
28	chr8:116197091..116200038-chr8:116201920..116204912,2	MCF-7	breast:
29	chr8:116197091..116200038-chr8:116201920..116204912,2	MCF-7	breast:
30	chr20:52437356..52438234-chr8:116087383..116088293,2	MCF-7	breast:
31	chr8:116128224..116130315-chr8:116157752..116160584,2	K562	blood:
32	chr8:116278892..116281604-chr8:116286464..116288900,3	K562	blood:
33	chr8:116205857..116209452-chr8:116213636..116216390,4	MCF-7	breast:
34	chr8:116105700..116107670-chr8:116108228..116110232,2	MCF-7	breast:
35	chr8:116250097..116251788-chr8:116254708..116257599,2	K562	blood:
36	chr8:116122466..116125390-chr8:116126954..116128703,2	MCF-7	breast:
37	chr8:116286407..116287127-chr8:117366785..117367308,2	MCF-7	breast:
38	chr2:216439920..216440742-chr8:116253681..116254634,2	MCF-7	breast:
39	chr8:115801565..115802207-chr8:116111087..116111614,2	MCF-7	breast:
40	chr8:116139843..116140617-chr8:116286036..116286953,6	MCF-7	breast:
41	chr8:116037155..116040113-chr8:116065059..116067107,2	MCF-7	breast:
42	chr8:115858587..115859263-chr8:116111343..116112027,3	MCF-7	breast:
43	chr8:115858790..115859787-chr8:116127493..116128052,2	MCF-7	breast:
44	chr15:85561506..85562271-chr8:116131183..116131729,2	MCF-7	breast:
45	chr8:116118717..116120924-chr8:116130705..116133037,2	MCF-7	breast:
46	chr8:116197006..116199326-chr8:116204502..116206471,3	MCF-7	breast:
47	chr8:116127927..116129475-chr8:116129633..116132436,2	MCF-7	breast:
48	chr8:116146174..116148539-chr8:116152246..116154222,2	MCF-7	breast:
49	chr8:116122466..116125390-chr8:116126954..116128703,2	MCF-7	breast:
50	chr8:116128224..116130315-chr8:116157752..116160584,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPS1-2	chr8:116224921-116224962	NONHSAT128361
2	lnc-TRPS1-2	chr8:116211884-116212003	NONHSAT128361
3	lnc-TRPS1-2	chr8:116227264-116227517	NONHSAT128361

No data

Variant related genes	Relation type
ENSG00000003756	chromatin interactions

Extended variants
information (count: 6432 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:6432 , 50 per page) page: 1 2 3 4 5 6 7 ... 129

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187276677	chr8:116038833-116038834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527772991	chr8:116038834-116038835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192135573	chr8:116038841-116038842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534522431	chr8:116038854-116038855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1436719	chr8:116038992-116038993	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183447354	chr8:116039017-116039018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375314612	chr8:116039036-116039037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187679350	chr8:116039042-116039043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116350315	chr8:116039102-116039103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567556235	chr8:116039105-116039106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538176003	chr8:116039106-116039107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1436718	chr8:116039213-116039214	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142400785	chr8:116039216-116039217	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539043454	chr8:116039217-116039218	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554174740	chr8:116039218-116039219	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs112673449	chr8:116039257-116039258	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146579268	chr8:116039293-116039294	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs73705453	chr8:116039297-116039298	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs555176807	chr8:116039314-116039315	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576549507	chr8:116039328-116039329	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs544140713	chr8:116039393-116039394	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs565243449	chr8:116039449-116039450	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs200979631	chr8:116039472-116039473	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532627696	chr8:116039498-116039499	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544622846	chr8:116039509-116039510	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559691264	chr8:116039580-116039581	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs527408922	chr8:116039599-116039600	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs145159164	chr8:116042612-116042613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552929476	chr8:116042696-116042697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114321048	chr8:116042723-116042724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565881419	chr8:116042819-116042820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142362971	chr8:116042844-116042845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146504487	chr8:116042858-116042859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575157377	chr8:116042905-116042906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185764577	chr8:116042912-116042913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73703103	chr8:116043090-116043091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147916409	chr8:116043125-116043126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141744195	chr8:116043127-116043128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576068064	chr8:116043166-116043167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1436712	chr8:116043191-116043192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs397972193	chr8:116043212-116043213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558477202	chr8:116043226-116043227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28678386	chr8:116043289-116043290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567908471	chr8:116043302-116043303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375100202	chr8:116043355-116043356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1436711	chr8:116043369-116043370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540111967	chr8:116043382-116043383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112862310	chr8:116048803-116048804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562126489	chr8:116048820-116048821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs114742161	chr8:116048823-116048824	ZNF genes & repeats	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
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
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
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
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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	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
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Gastric cancer	22014070	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164920	CNVD
Renal cell carcinoma	21215367	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:830 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:116038800-116039200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr8:116039000-116039200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:116039000-116039400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:116039000-116039400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:116039200-116039600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:116042600-116043400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:116048800-116049200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:116048800-116049400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr8:116049000-116049400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:116060000-116060400	Enhancers	Rectal Smooth Muscle	rectum
11	chr8:116060000-116060600	Enhancers	Colon Smooth Muscle	Colon
12	chr8:116061800-116062400	Active TSS	Right Atrium	heart
13	chr8:116062600-116067400	Weak transcription	HSMMtube	muscle
14	chr8:116065000-116067400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:116067000-116067400	Enhancers	NHLF	lung
16	chr8:116067000-116068000	Enhancers	NHDF-Ad	bronchial
17	chr8:116067000-116069400	Enhancers	HMEC	breast
18	chr8:116067000-116070800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:116067200-116067600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:116067200-116068000	Enhancers	Osteobl	bone
21	chr8:116067200-116068400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:116067200-116068800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:116067200-116068800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:116067400-116067600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:116067400-116067600	Flanking Active TSS	NHLF	lung
26	chr8:116067400-116068000	Enhancers	NH-A	brain
27	chr8:116067400-116069000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:116067400-116069400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:116067400-116069400	Enhancers	HSMMtube	muscle
30	chr8:116067400-116070800	Enhancers	HSMM	muscle
31	chr8:116067600-116068000	Enhancers	NHLF	lung
32	chr8:116067600-116069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:116067600-116069400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:116067800-116068000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:116067800-116068800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:116068000-116068200	Flanking Active TSS	NH-A	brain
37	chr8:116068000-116068200	Flanking Active TSS	NHDF-Ad	bronchial
38	chr8:116068000-116068200	Flanking Active TSS	NHLF	lung
39	chr8:116068000-116068400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:116068000-116068600	Flanking Active TSS	Osteobl	bone
41	chr8:116068000-116069400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr8:116068000-116069400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:116068000-116069400	Enhancers	Hela-S3	cervix
44	chr8:116068000-116070000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:116068200-116068800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:116068200-116068800	Active TSS	NH-A	brain
47	chr8:116068200-116068800	Active TSS	NHDF-Ad	bronchial
48	chr8:116068200-116068800	Active TSS	NHLF	lung
49	chr8:116068400-116068600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:116068400-116068800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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