Variant report

Variant	nsv611889
Chromosome Location	chr8:112079211-112157540
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:8)
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	chr8:112092554..112095223-chr8:112096856..112098486,2	MCF-7	breast:
2	chr8:112121761..112124184-chr8:112126207..112129085,2	K562	blood:
3	chr8:112121761..112124184-chr8:112126207..112129085,2	K562	blood:
4	chr8:112139232..112142043-chr8:112142133..112144046,2	MCF-7	breast:
5	chr8:112154689..112157253-chr8:112157958..112160941,2	MCF-7	breast:
6	chr8:112123114..112125207-chr8:112128541..112131451,2	K562	blood:
7	chr8:112073611..112075207-chr8:112079150..112081817,2	MCF-7	breast:
8	chr8:112112298..112113981-chr8:112264995..112266040,10	MCF-7	breast:
9	chr8:111877803..111878676-chr8:112126153..112126932,3	MCF-7	breast:
10	chr8:112112573..112113471-chr8:121617637..121618420,2	MCF-7	breast:
11	chr8:112152245..112153161-chr8:112248220..112248923,2	MCF-7	breast:
12	chr8:111877803..111878653-chr8:112126153..112126716,2	MCF-7	breast:
13	chr8:112139232..112142043-chr8:112142133..112144046,2	MCF-7	breast:
14	chr8:112152279..112153172-chr8:112264812..112266234,7	MCF-7	breast:
15	chr8:112127583..112130124-chr8:112133579..112135146,2	MCF-7	breast:
16	chr1:120421655..120422591-chr8:112129482..112130279,2	MCF-7	breast:
17	chr8:112151809..112153959-chr8:112263594..112266459,2	MCF-7	breast:
18	chr8:112152351..112153276-chr8:112265083..112266006,7	MCF-7	breast:
19	chr8:112123114..112125207-chr8:112128541..112131451,2	K562	blood:
20	chr8:112152211..112153851-chr8:112248272..112249455,10	MCF-7	breast:
21	chr8:112092554..112095223-chr8:112096856..112098486,2	MCF-7	breast:
22	chr8:112112155..112113418-chr8:112247960..112249178,7	MCF-7	breast:
23	chr8:112115345..112116966-chr8:112124670..112126786,2	MCF-7	breast:
24	chr8:112142087..112143993-chr8:112151164..112153566,2	MCF-7	breast:
25	chr8:112115345..112116966-chr8:112124670..112126786,2	MCF-7	breast:
26	chr8:112142087..112143993-chr8:112151164..112153566,2	MCF-7	breast:
27	chr8:112126432..112126980-chr8:112164515..112165028,2	MCF-7	breast:
28	chr8:112133641..112134299-chr9:13359583..13360482,2	MCF-7	breast:
29	chr8:112152279..112153092-chr8:121617588..121618297,2	MCF-7	breast:
30	chr8:112127583..112130124-chr8:112133579..112135146,2	MCF-7	breast:
31	chr8:112113576..112114171-chr8:112248201..112249138,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNV1-7	chr8:112086066-112086174	l_3667_chr8:112084787-112108928_brain
2	lnc-KCNV1-7	chr8:112084788-112084855	l_3667_chr8:112084787-112108928_brain
3	lnc-CSMD3-3	chr8:112125661-112125749	ENSG00000253103
4	lnc-KCNV1-7	chr8:112108711-112108928	l_3667_chr8:112084787-112108928_brain
5	lnc-KCNV1-7	chr8:112096343-112096437	l_3667_chr8:112084787-112108928_brain
6	lnc-KCNV1-7	chr8:112086929-112087054	l_3667_chr8:112084787-112108928_brain
7	lnc-CSMD3-3	chr8:112128764-112128829	ENSG00000253103
8	lnc-CSMD3-3	chr8:112111190-112111368	ENSG00000253103

No data

Variant related genes	Relation type
ENSG00000253103	chromatin interactions

Extended variants
information (count: 488 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149768320	chr8:112084804-112084805	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs111706378	chr8:112084809-112084810	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs577643641	chr8:112084843-112084844	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs567055486	chr8:112086079-112086080	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs535920216	chr8:112086105-112086106	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs10094043	chr8:112086983-112086984	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs189873717	chr8:112086991-112086992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs536272284	chr8:112086996-112086997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs553054770	chr8:112086999-112087000	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs766458	chr8:112096354-112096355	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs368130937	chr8:112096355-112096356	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs542002770	chr8:112096367-112096368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs28712761	chr8:112096371-112096372	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs766457	chr8:112096388-112096389	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs554521223	chr8:112096403-112096404	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs565695543	chr8:112099013-112099014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377277396	chr8:112099042-112099043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549992817	chr8:112099044-112099045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570252996	chr8:112099071-112099072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10107556	chr8:112099083-112099084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369977141	chr8:112099164-112099165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11786026	chr8:112099174-112099175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10955559	chr8:112099182-112099183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554282258	chr8:112099239-112099240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12681785	chr8:112099288-112099289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577847544	chr8:112099301-112099302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537220057	chr8:112099318-112099319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56701711	chr8:112099320-112099321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573842480	chr8:112099322-112099323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55817798	chr8:112099324-112099325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376088294	chr8:112099339-112099340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552993054	chr8:112099354-112099355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115093638	chr8:112099361-112099362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10107897	chr8:112099406-112099407	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368047907	chr8:112099410-112099411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528218353	chr8:112099421-112099422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139609042	chr8:112099436-112099437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527792784	chr8:112099451-112099452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373204594	chr8:112099459-112099460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142812269	chr8:112099495-112099496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57250430	chr8:112099503-112099504	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541913635	chr8:112099595-112099596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375958121	chr8:112099656-112099657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561678663	chr8:112099691-112099692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528078577	chr8:112099777-112099778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551422824	chr8:112099807-112099808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73701686	chr8:112099860-112099861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537183643	chr8:112099872-112099873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79987538	chr8:112099925-112099926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567928890	chr8:112099927-112099928	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
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
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
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
Sezary syndrome	18413736	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
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	21163964	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112099000-112100000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr8:112099000-112100400	Enhancers	Adipose Nuclei	Adipose
3	chr8:112101600-112102000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:112126000-112126800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:112126400-112126800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:112132600-112133000	Enhancers	Fetal Heart	heart
7	chr8:112133400-112134400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:112135800-112136600	Enhancers	Brain Hippocampus Middle	brain
9	chr8:112148400-112148800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr8:112148800-112149000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:112152400-112153000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:112152400-112153000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:112152400-112153600	Enhancers	HMEC	breast
14	chr8:112152800-112153200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:112152800-112153200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:112152800-112153800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:112152800-112161800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:112153000-112159200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:112153800-112155600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:112155600-112155800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:112155800-112156000	Enhancers	HMEC	breast

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