Variant report

Variant	nsv891308
Chromosome Location	chr8:112071990-112163801
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:35)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:112152351..112153276-chr8:112265083..112266006,7	MCF-7	breast:
2	chr8:112133641..112134299-chr9:13359583..13360482,2	MCF-7	breast:
3	chr8:112152245..112153161-chr8:112248220..112248923,2	MCF-7	breast:
4	chr8:112152279..112153092-chr8:121617588..121618297,2	MCF-7	breast:
5	chr8:112152279..112153172-chr8:112264812..112266234,7	MCF-7	breast:
6	chr8:111877803..111878676-chr8:112126153..112126932,3	MCF-7	breast:
7	chr8:112127583..112130124-chr8:112133579..112135146,2	MCF-7	breast:
8	chr8:112092554..112095223-chr8:112096856..112098486,2	MCF-7	breast:
9	chr8:112073611..112075207-chr8:112079150..112081817,2	MCF-7	breast:
10	chr8:112152211..112153851-chr8:112248272..112249455,10	MCF-7	breast:
11	chr8:112115345..112116966-chr8:112124670..112126786,2	MCF-7	breast:
12	chr8:112139232..112142043-chr8:112142133..112144046,2	MCF-7	breast:
13	chr8:112121761..112124184-chr8:112126207..112129085,2	K562	blood:
14	chr1:120421655..120422591-chr8:112129482..112130279,2	MCF-7	breast:
15	chr8:112139232..112142043-chr8:112142133..112144046,2	MCF-7	breast:
16	chr8:112115345..112116966-chr8:112124670..112126786,2	MCF-7	breast:
17	chr8:112113576..112114171-chr8:112248201..112249138,2	MCF-7	breast:
18	chr8:112151809..112153959-chr8:112263594..112266459,2	MCF-7	breast:
19	chr8:112123114..112125207-chr8:112128541..112131451,2	K562	blood:
20	chr8:112142087..112143993-chr8:112151164..112153566,2	MCF-7	breast:
21	chr8:112142087..112143993-chr8:112151164..112153566,2	MCF-7	breast:
22	chr8:112123114..112125207-chr8:112128541..112131451,2	K562	blood:
23	chr8:112154689..112157253-chr8:112157958..112160941,2	MCF-7	breast:
24	chr8:112121761..112124184-chr8:112126207..112129085,2	K562	blood:
25	chr8:112127583..112130124-chr8:112133579..112135146,2	MCF-7	breast:
26	chr8:112112155..112113418-chr8:112247960..112249178,7	MCF-7	breast:
27	chr8:112092554..112095223-chr8:112096856..112098486,2	MCF-7	breast:
28	chr8:111877803..111878653-chr8:112126153..112126716,2	MCF-7	breast:
29	chr8:112126432..112126980-chr8:112164515..112165028,2	MCF-7	breast:
30	chr8:112112298..112113981-chr8:112264995..112266040,10	MCF-7	breast:
31	chr8:112154689..112157253-chr8:112157958..112160941,2	MCF-7	breast:
32	chr8:112073611..112075207-chr8:112079150..112081817,2	MCF-7	breast:
33	chr8:112112573..112113471-chr8:121617637..121618420,2	MCF-7	breast:
34	chr8:112047893..112049980-chr8:112071535..112074858,3	K562	blood:
35	chr8:112069491..112071465-chr8:112075168..112076781,2	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000253103	chromatin interactions

Extended variants
information (count: 883 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553560704	chr8:112073602-112073603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113020668	chr8:112073609-112073610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34372219	chr8:112073653-112073654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543546809	chr8:112073714-112073715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146233021	chr8:112073715-112073716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545739836	chr8:112073727-112073728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114966652	chr8:112073736-112073737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530776204	chr8:112073775-112073776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544615655	chr8:112073798-112073799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs207469673	chr8:112073887-112073888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146495851	chr8:112073942-112073943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530218275	chr8:112073993-112073994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147897231	chr8:112074017-112074018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567115324	chr8:112074018-112074019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532831251	chr8:112074109-112074110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372529549	chr8:112074110-112074111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189648321	chr8:112074178-112074179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561739252	chr8:112074182-112074183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569589469	chr8:112074191-112074192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537418531	chr8:112074234-112074235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538325511	chr8:112074251-112074252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529137840	chr8:112074282-112074283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570067569	chr8:112074285-112074286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548796525	chr8:112074296-112074297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141582311	chr8:112074411-112074412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533929298	chr8:112074412-112074413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568686082	chr8:112074414-112074415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537161520	chr8:112074447-112074448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374068246	chr8:112074547-112074548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553548555	chr8:112074627-112074628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576656717	chr8:112074671-112074672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1427177	chr8:112074708-112074709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183378400	chr8:112074735-112074736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529297356	chr8:112074746-112074747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570826342	chr8:112074782-112074783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560390479	chr8:112074791-112074792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566320388	chr8:112074799-112074800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187972339	chr8:112074815-112074816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552761925	chr8:112074820-112074821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113807945	chr8:112074837-112074838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112440322	chr8:112074879-112074880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367597467	chr8:112074932-112074933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532302513	chr8:112074957-112074958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71303464	chr8:112074958-112074959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150703135	chr8:112074959-112074960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1972704	chr8:112074960-112074961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540756991	chr8:112074965-112074966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1986061	chr8:112074974-112074975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150353206	chr8:112074987-112074988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368171205	chr8:112075006-112075007	Weak transcription	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112073600-112073800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:112073800-112077200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:112075800-112076000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr8:112077000-112078000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:112077200-112078000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:112077200-112078200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:112077400-112078000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:112099000-112100000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:112099000-112100400	Enhancers	Adipose Nuclei	Adipose
10	chr8:112101600-112102000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:112126000-112126800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:112126400-112126800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:112132600-112133000	Enhancers	Fetal Heart	heart
14	chr8:112133400-112134400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:112135800-112136600	Enhancers	Brain Hippocampus Middle	brain
16	chr8:112148400-112148800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
17	chr8:112148800-112149000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:112152400-112153000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:112152400-112153000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:112152400-112153600	Enhancers	HMEC	breast
21	chr8:112152800-112153200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:112152800-112153200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:112152800-112153800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:112152800-112161800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:112153000-112159200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:112153800-112155600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:112155600-112155800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:112155800-112156000	Enhancers	HMEC	breast
29	chr8:112159200-112161200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr8:112159800-112160800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr8:112160800-112161600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:112161200-112161400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:112161200-112164400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:112161200-112165200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:112161400-112162800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:112161400-112163400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:112161400-112165200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:112161600-112162400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:112161800-112162600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:112162000-112164600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:112162400-112163000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr8:112162400-112165200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr8:112162600-112164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:112162800-112164000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:112163000-112163400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr8:112163200-112163400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:112163400-112163800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr8:112163400-112164200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr8:112163400-112164800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr8:112163800-112164800	Enhancers	HUES64 Cell Line	embryonic stem cell

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