Variant report

Variant	nsv527244
Chromosome Location	chr8:90532927-90589630
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90545613..90547386-chr8:90627990..90630572,2	MCF-7	breast:
2	chr8:90580330..90583016-chr8:90584267..90585810,2	MCF-7	breast:
3	chr8:90515684..90517302-chr8:90531815..90534034,2	MCF-7	breast:
4	chr8:90570319..90572702-chr8:90573054..90574779,2	MCF-7	breast:
5	chr8:90539182..90543934-chr8:90545577..90548881,5	MCF-7	breast:
6	chr8:90531780..90534462-chr8:90543332..90544920,2	MCF-7	breast:
7	chr8:90576363..90578196-chr8:90582814..90584387,2	MCF-7	breast:
8	chr8:90570319..90572702-chr8:90573054..90574779,2	MCF-7	breast:
9	chr8:90573142..90574734-chr8:90574796..90577742,2	MCF-7	breast:
10	chr8:90579098..90579926-chr8:90624854..90625740,2	MCF-7	breast:
11	chr8:90573142..90574734-chr8:90574796..90577742,2	MCF-7	breast:
12	chr8:90539182..90543934-chr8:90545577..90548881,5	MCF-7	breast:
13	chr8:90580330..90583016-chr8:90584267..90585810,2	MCF-7	breast:
14	chr8:90576363..90578196-chr8:90582814..90584387,2	MCF-7	breast:
15	chr8:90531640..90533471-chr8:90537181..90540329,3	MCF-7	breast:
16	chr15:42762017..42764640-chr8:90562337..90564364,2	MCF-7	breast:
17	chr8:90531640..90533471-chr8:90537181..90540329,3	MCF-7	breast:
18	chr8:90531780..90534462-chr8:90543332..90544920,2	MCF-7	breast:
19	chr8:90531252..90532820-chr8:90536073..90538212,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251136	chromatin interactions

Extended variants
information (count: 2154 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:2154 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7014727	chr8:90532927-90532928	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77217974	chr8:90532942-90532943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183460160	chr8:90533001-90533002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189201267	chr8:90533002-90533003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571650759	chr8:90533020-90533021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56881583	chr8:90533035-90533036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551309644	chr8:90533084-90533085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138701228	chr8:90533085-90533086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574308572	chr8:90533107-90533108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367736433	chr8:90533122-90533123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555114676	chr8:90533135-90533136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567325523	chr8:90533138-90533139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114782592	chr8:90533164-90533165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6995460	chr8:90533175-90533176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572896929	chr8:90533182-90533183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569709412	chr8:90533243-90533244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149249432	chr8:90533246-90533247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544972091	chr8:90533257-90533258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554512188	chr8:90533262-90533263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572745898	chr8:90533263-90533264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192842567	chr8:90533281-90533282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112762267	chr8:90533296-90533297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537239452	chr8:90533338-90533339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561559719	chr8:90533354-90533355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531799608	chr8:90533399-90533400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77816453	chr8:90533401-90533402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565232933	chr8:90533500-90533501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558516235	chr8:90533504-90533505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144428285	chr8:90533512-90533513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116387177	chr8:90533564-90533565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184863855	chr8:90533566-90533567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548849514	chr8:90533576-90533577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190153755	chr8:90533581-90533582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537638574	chr8:90533583-90533584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4571769	chr8:90533627-90533628	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577342290	chr8:90533652-90533653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571211174	chr8:90533666-90533667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148805267	chr8:90533682-90533683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534450986	chr8:90533758-90533759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542901362	chr8:90533760-90533761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181882539	chr8:90533781-90533782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142450397	chr8:90533898-90533899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114082771	chr8:90533910-90533911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576625037	chr8:90533920-90533921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150184575	chr8:90533932-90533933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544892457	chr8:90533933-90533934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574491138	chr8:90533974-90533975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543606912	chr8:90534039-90534040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7459744	chr8:90534044-90534045	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs16897426	chr8:90534068-90534069	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90532800-90533000	Enhancers	HSMMtube	muscle
2	chr8:90533000-90534200	Weak transcription	HSMMtube	muscle
3	chr8:90533400-90534200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:90533400-90534200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:90534200-90534800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:90534200-90535200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:90534200-90535600	Enhancers	HSMMtube	muscle
8	chr8:90534800-90536400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:90535200-90535600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:90536400-90541400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:90540800-90542600	Enhancers	Hela-S3	cervix
12	chr8:90541400-90541800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:90541400-90542400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:90541600-90542000	Enhancers	Adipose Nuclei	Adipose
15	chr8:90542600-90546400	Weak transcription	Hela-S3	cervix
16	chr8:90545200-90545600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:90545600-90546200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:90546000-90546200	Enhancers	A549	lung
19	chr8:90546200-90546400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:90546200-90546400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:90546200-90546800	Flanking Active TSS	A549	lung
22	chr8:90546400-90546600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:90546400-90546600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:90546400-90546600	Enhancers	Hela-S3	cervix
25	chr8:90546400-90546800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr8:90546400-90547000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:90546400-90547800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:90546600-90546800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:90546600-90546800	Flanking Active TSS	Hela-S3	cervix
30	chr8:90546600-90547000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr8:90546600-90547000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr8:90546600-90548000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:90546800-90547400	Active TSS	Hela-S3	cervix
34	chr8:90546800-90547600	Active TSS	A549	lung
35	chr8:90546800-90547800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:90546800-90548000	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr8:90546800-90548000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr8:90546800-90548000	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr8:90547000-90547200	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr8:90547000-90548000	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr8:90547000-90548000	Active TSS	H1 Cell Line	embryonic stem cell
42	chr8:90547000-90548000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:90547000-90548000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr8:90547000-90548000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr8:90547200-90547400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr8:90547200-90547800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr8:90547200-90547800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:90547200-90547800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:90547200-90548000	Active TSS	H9 Cell Line	embryonic stem cell
50	chr8:90547200-90548000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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