Variant report

Variant	nsv891272
Chromosome Location	chr8:110217266-110268104
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:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110236599..110237927-chr8:110328052..110329074,4	MCF-7	breast:
2	chr8:110265183..110267675-chr8:110271618..110273789,2	K562	blood:
3	chr8:110251256..110254212-chr8:110254485..110256380,2	K562	blood:
4	chr8:109931267..109933961-chr8:110239914..110241556,2	MCF-7	breast:
5	chr8:110267160..110271575-chr8:110275719..110280785,4	MCF-7	breast:
6	chr8:110051446..110054408-chr8:110240885..110242830,2	MCF-7	breast:
7	chr8:110237564..110238071-chr8:110338220..110338727,2	MCF-7	breast:
8	chr8:110234924..110237282-chr8:110242100..110245071,2	K562	blood:
9	chr8:110252631..110254624-chr8:110265466..110267437,3	MCF-7	breast:
10	chr8:109930335..109931225-chr8:110235196..110236060,2	MCF-7	breast:
11	chr8:110252748..110254805-chr8:110344261..110345885,2	K562	blood:
12	chr8:110237132..110238315-chr8:110294080..110295100,5	MCF-7	breast:
13	chr8:110242575..110246884-chr8:110247305..110250446,3	MCF-7	breast:
14	chr8:110152393..110154757-chr8:110241965..110244257,2	MCF-7	breast:
15	chr10:94276559..94277094-chr8:110249687..110250189,3	MCF-7	breast:
16	chr8:110238617..110240882-chr8:110264919..110266571,2	MCF-7	breast:
17	chr8:110238617..110240882-chr8:110264919..110266571,2	MCF-7	breast:
18	chr8:110252631..110254624-chr8:110265466..110267437,3	MCF-7	breast:
19	chr8:110144829..110147238-chr8:110238883..110241671,2	MCF-7	breast:
20	chr8:110245513..110246299-chr8:110328099..110328844,2	MCF-7	breast:
21	chr8:110242575..110246884-chr8:110247305..110250446,3	MCF-7	breast:
22	chr8:110251271..110254204-chr8:110279241..110281441,2	K562	blood:
23	chr8:110193763..110196716-chr8:110219101..110221509,2	MCF-7	breast:
24	chr8:110266910..110269823-chr8:110274098..110276440,2	MCF-7	breast:
25	chr8:110234924..110237282-chr8:110242100..110245071,2	K562	blood:
26	chr8:110249700..110252178-chr8:110258243..110259912,2	K562	blood:
27	chr8:110249700..110252178-chr8:110258243..110259912,2	K562	blood:
28	chr8:110251256..110254212-chr8:110254485..110256380,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDCD1-1	chr8:110243904-110244239	NONHSAT128287

No data

Variant related genes	Relation type
ENSG00000253796	chromatin interactions

Extended variants
information (count: 1865 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1865 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7823896	chr8:110217266-110217267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs192417437	chr8:110217316-110217317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576579534	chr8:110217317-110217318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531527005	chr8:110217381-110217382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185613303	chr8:110217392-110217393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545979941	chr8:110217420-110217421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77917360	chr8:110217423-110217424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150714995	chr8:110217426-110217427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542130485	chr8:110217461-110217462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562420084	chr8:110217487-110217488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527645814	chr8:110217506-110217507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541417457	chr8:110217564-110217565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555881769	chr8:110217572-110217573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564419591	chr8:110217582-110217583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139054955	chr8:110217628-110217629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570864799	chr8:110217681-110217682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189294069	chr8:110217709-110217710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150865058	chr8:110217715-110217716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35537032	chr8:110217716-110217717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202052925	chr8:110217718-110217719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569098681	chr8:110217738-110217739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531556415	chr8:110217743-110217744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113500319	chr8:110217752-110217753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548147804	chr8:110217799-110217800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568349683	chr8:110217860-110217861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533553406	chr8:110217862-110217863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553772407	chr8:110217877-110217878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180865844	chr8:110217924-110217925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184867929	chr8:110217934-110217935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369443245	chr8:110217935-110217936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555862837	chr8:110218036-110218037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576197180	chr8:110218045-110218046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536056325	chr8:110218052-110218053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566863558	chr8:110218053-110218054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2007179	chr8:110218096-110218097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188709632	chr8:110218111-110218112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541056383	chr8:110218115-110218116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564505646	chr8:110218155-110218156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578126396	chr8:110218192-110218193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543905329	chr8:110218213-110218214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs922044	chr8:110218264-110218265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs35582992	chr8:110218316-110218317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575888845	chr8:110218340-110218341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75409956	chr8:110218442-110218443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59414369	chr8:110218470-110218471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561827951	chr8:110218501-110218502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs922045	chr8:110218540-110218541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527620115	chr8:110218556-110218557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367543727	chr8:110218589-110218590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547057587	chr8:110218600-110218601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
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
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110191400-110237400	Weak transcription	Left Ventricle	heart
2	chr8:110202000-110221400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:110204800-110230600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:110211200-110311600	Weak transcription	Right Ventricle	heart
5	chr8:110216800-110220800	Weak transcription	HSMM	muscle
6	chr8:110217200-110217400	Weak transcription	Psoas Muscle	Psoas
7	chr8:110221600-110222200	Enhancers	HepG2	liver
8	chr8:110223200-110223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:110223400-110223800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:110223400-110224000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:110223600-110223800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:110225600-110231000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:110225800-110226000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:110225800-110241800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:110226000-110230600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:110230000-110230600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr8:110230000-110230600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:110230200-110231200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:110230400-110241000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:110230600-110230800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:110230600-110231800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:110230600-110231800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:110231000-110231800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:110231000-110231800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:110231000-110238600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:110231200-110233600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr8:110231400-110232200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr8:110231400-110233200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr8:110231400-110236800	Weak transcription	Ovary	ovary
30	chr8:110231600-110235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:110231800-110233000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:110231800-110234800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:110231800-110235400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:110231800-110235400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:110231800-110237400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:110231800-110242200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:110232200-110232800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:110232800-110233200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr8:110233400-110233600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr8:110233600-110239000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:110233800-110235800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:110233800-110236200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:110233800-110237400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:110234200-110237400	Weak transcription	Pancreas	Pancrea
45	chr8:110234200-110241200	Weak transcription	HUVEC	blood vessel
46	chr8:110234400-110235400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
47	chr8:110234400-110235800	Weak transcription	Brain Germinal Matrix	brain
48	chr8:110234400-110236000	Weak transcription	A549	lung
49	chr8:110234400-110237400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:110234600-110237400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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