Variant report

Variant	nsv1031663
Chromosome Location	chr8:110177432-110303085
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:76)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:110274950..110277941-chr8:110345336..110348153,2	MCF-7	breast:
2	chr8:110276401..110278429-chr8:110280186..110282933,2	MCF-7	breast:
3	chr8:110195761..110197327-chr8:110197475..110199148,2	MCF-7	breast:
4	chr8:110251256..110254212-chr8:110254485..110256380,2	K562	blood:
5	chr8:110273357..110276985-chr8:110278828..110281749,3	K562	blood:
6	chr8:110293214..110295684-chr8:110300331..110302859,2	MCF-7	breast:
7	chr8:109930431..109931332-chr8:110293724..110294960,8	MCF-7	breast:
8	chr8:110130537..110131463-chr8:110294292..110294801,2	MCF-7	breast:
9	chr8:110251271..110254204-chr8:110279241..110281441,2	K562	blood:
10	chr8:110178793..110181398-chr8:110184663..110187163,2	MCF-7	breast:
11	chr8:110238617..110240882-chr8:110264919..110266571,2	MCF-7	breast:
12	chr8:110284180..110285865-chr8:110286825..110289616,2	K562	blood:
13	chr8:109931267..109933961-chr8:110239914..110241556,2	MCF-7	breast:
14	chr8:110267160..110271575-chr8:110275719..110280785,4	MCF-7	breast:
15	chr8:110187579..110189456-chr8:110191000..110193987,2	K562	blood:
16	chr8:110293728..110295786-chr8:110296881..110298730,2	MCF-7	breast:
17	chr8:110284682..110286826-chr8:110289156..110291459,2	MCF-7	breast:
18	chr8:110267160..110271575-chr8:110275719..110280785,4	MCF-7	breast:
19	chr8:110298680..110300639-chr8:110303623..110306620,2	K562	blood:
20	chr8:110274391..110276446-chr8:110278687..110281148,2	MCF-7	breast:
21	chr8:110251271..110254204-chr8:110279241..110281441,2	K562	blood:
22	chr8:110195761..110197327-chr8:110197475..110199148,2	MCF-7	breast:
23	chr8:110176070..110178321-chr8:110188614..110190804,2	K562	blood:
24	chr8:110249700..110252178-chr8:110258243..110259912,2	K562	blood:
25	chr8:110265183..110267675-chr8:110271618..110273789,2	K562	blood:
26	chr8:110252631..110254624-chr8:110265466..110267437,3	MCF-7	breast:
27	chr8:110252631..110254624-chr8:110265466..110267437,3	MCF-7	breast:
28	chr8:110187579..110190023-chr8:110192487..110194344,2	K562	blood:
29	chr8:110284180..110285865-chr8:110286825..110289616,2	K562	blood:
30	chr10:94276559..94277094-chr8:110249687..110250189,3	MCF-7	breast:
31	chr19:54928201..54930624-chr8:110197565..110199465,2	MCF-7	breast:
32	chr8:110249700..110252178-chr8:110258243..110259912,2	K562	blood:
33	chr8:110187579..110190023-chr8:110192487..110194344,2	K562	blood:
34	chr8:110274391..110276446-chr8:110278687..110281148,2	MCF-7	breast:
35	chr8:110276401..110278429-chr8:110280186..110282933,2	MCF-7	breast:
36	chr8:110234924..110237282-chr8:110242100..110245071,2	K562	blood:
37	chr8:110170035..110172030-chr8:110179252..110181141,2	K562	blood:
38	chr8:110284939..110287374-chr8:110293583..110295372,2	MCF-7	breast:
39	chr8:110265183..110267675-chr8:110271618..110273789,2	K562	blood:
40	chr8:110245513..110246299-chr8:110328099..110328844,2	MCF-7	breast:
41	chr8:110296774..110299286-chr8:110348162..110350315,2	K562	blood:
42	chr8:110271725..110274616-chr8:110342573..110345047,2	K562	blood:
43	chr8:110242575..110246884-chr8:110247305..110250446,3	MCF-7	breast:
44	chr8:110238617..110240882-chr8:110264919..110266571,2	MCF-7	breast:
45	chr8:110300725..110303179-chr8:110304720..110306354,2	MCF-7	breast:
46	chr8:110144829..110147238-chr8:110238883..110241671,2	MCF-7	breast:
47	chr8:110242575..110246884-chr8:110247305..110250446,3	MCF-7	breast:
48	chr8:110293214..110295684-chr8:110300331..110302859,2	MCF-7	breast:
49	chr8:110266910..110269823-chr8:110274098..110276440,2	MCF-7	breast:
50	chr8:110178793..110181398-chr8:110184663..110187163,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRHR-1	chr8:110188878-110189374	NONHSAT128286
2	lnc-NUDCD1-1	chr8:110243904-110244239	NONHSAT128287

No data

Variant related genes	Relation type
ENSG00000120533	chromatin interactions
ENSG00000253796	chromatin interactions
ENSG00000120526	chromatin interactions
ENSG00000147654	chromatin interactions
ENSG00000167614	chromatin interactions

Extended variants
information (count: 4349 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:4349 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556804472	chr8:110177550-110177551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7825689	chr8:110177596-110177597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs62510042	chr8:110177598-110177599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73700815	chr8:110177656-110177657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551628820	chr8:110177754-110177755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562528989	chr8:110177823-110177824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7845815	chr8:110177844-110177845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs551096489	chr8:110177955-110177956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537780398	chr8:110177957-110177958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550687798	chr8:110177994-110177995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191669579	chr8:110178002-110178003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577512202	chr8:110178017-110178018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139742588	chr8:110178041-110178042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375194245	chr8:110178060-110178061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28413119	chr8:110178100-110178101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs534789184	chr8:110178115-110178116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557967223	chr8:110178148-110178149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143076530	chr8:110178164-110178165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543747719	chr8:110178176-110178177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527531299	chr8:110178189-110178190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182240844	chr8:110178215-110178216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12542959	chr8:110178265-110178266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs187202184	chr8:110178308-110178309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200378315	chr8:110178312-110178313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79780072	chr8:110178349-110178350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528197902	chr8:110178380-110178381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371251680	chr8:110178456-110178457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551664370	chr8:110178470-110178471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377413392	chr8:110178476-110178477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4734197	chr8:110178505-110178506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs551259975	chr8:110178508-110178509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190836740	chr8:110178538-110178539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536659853	chr8:110178543-110178544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530951351	chr8:110178622-110178623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547046670	chr8:110178626-110178627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566956572	chr8:110178634-110178635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115777107	chr8:110178785-110178786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557665972	chr8:110178805-110178806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76345382	chr8:110178830-110178831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11344693	chr8:110178913-110178914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4734198	chr8:110178952-110178953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs536911537	chr8:110179153-110179154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201726913	chr8:110179168-110179169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10101048	chr8:110179192-110179193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs10101050	chr8:110179195-110179196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs182477155	chr8:110179254-110179255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187124012	chr8:110179260-110179261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146117823	chr8:110179264-110179265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34165855	chr8:110179272-110179273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10101189	chr8:110179372-110179373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:108)

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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Renal cell carcinoma	21215367	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:1526 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110175400-110181400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:110186000-110192200	Weak transcription	HSMMtube	muscle
3	chr8:110187200-110187400	ZNF genes & repeats	Lung	lung
4	chr8:110187400-110188200	Weak transcription	Lung	lung
5	chr8:110190400-110191400	Enhancers	GM12878-XiMat	blood
6	chr8:110191400-110192000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:110191400-110192000	Flanking Active TSS	GM12878-XiMat	blood
8	chr8:110191400-110237400	Weak transcription	Left Ventricle	heart
9	chr8:110191600-110191800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:110191600-110192000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:110191600-110192200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:110191600-110192200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:110191600-110193000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:110191800-110195600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:110192000-110192200	Enhancers	GM12878-XiMat	blood
16	chr8:110192000-110193000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:110192000-110193000	Enhancers	Osteobl	bone
18	chr8:110192000-110193200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:110192200-110193000	Enhancers	HSMM	muscle
20	chr8:110192200-110193000	Enhancers	HSMMtube	muscle
21	chr8:110192200-110202400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:110192400-110192600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:110192400-110193000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:110192400-110193000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:110192400-110202000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:110192600-110197600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:110192800-110193200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:110193000-110200000	Weak transcription	HSMM	muscle
29	chr8:110193400-110194800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr8:110194200-110195600	Weak transcription	Aorta	Aorta
31	chr8:110195600-110195800	ZNF genes & repeats	Aorta	Aorta
32	chr8:110195600-110196000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:110196000-110197200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:110197200-110197400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:110197600-110198400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:110198400-110199200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:110200400-110201000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:110200400-110201400	Enhancers	HepG2	liver
39	chr8:110200600-110204600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:110201000-110201600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:110201600-110202000	Enhancers	K562	blood
42	chr8:110201600-110202200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:110201600-110202200	Enhancers	Fetal Lung	lung
44	chr8:110201600-110203000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:110201800-110202000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:110202000-110202600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr8:110202000-110221400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:110202200-110202400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr8:110202200-110202600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:110202200-110202800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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