Variant report

Variant	nsv1015491
Chromosome Location	chr5:101012106-101103009
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:101078843..101080982-chr5:101098462..101100344,2	MCF-7	breast:
2	chr5:100726516..100727169-chr5:101014073..101014596,2	MCF-7	breast:
3	chr5:100801149..100803807-chr5:101019076..101021697,2	K562	blood:
4	chr5:100950934..100952627-chr5:101023886..101026706,2	K562	blood:
5	chr5:100977422..100978164-chr5:101014049..101014730,4	MCF-7	breast:
6	chr5:101013149..101015259-chr5:101019729..101021246,2	MCF-7	breast:
7	chr5:101013149..101015259-chr5:101019729..101021246,2	MCF-7	breast:
8	chr5:101053272..101055786-chr5:101055879..101057749,3	MCF-7	breast:
9	chr5:100926018..100926756-chr5:101014023..101014890,2	MCF-7	breast:
10	chr5:101053272..101055786-chr5:101055879..101057749,3	MCF-7	breast:
11	chr5:101078843..101080982-chr5:101098462..101100344,2	MCF-7	breast:

No data

Extended variants
information (count: 1369 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1369 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555210646	chr5:101012152-101012153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72770507	chr5:101012153-101012154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571532108	chr5:101012171-101012172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544225100	chr5:101012177-101012178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115791781	chr5:101012224-101012225	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs376821932	chr5:101012263-101012264	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs77049471	chr5:101012327-101012328	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs554341472	chr5:101012453-101012454	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs150672125	chr5:101012464-101012465	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs71966349	chr5:101012465-101012466	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs61394064	chr5:101012469-101012470	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs573121501	chr5:101012493-101012494	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs540141309	chr5:101012525-101012526	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564911140	chr5:101012553-101012554	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs564121208	chr5:101012601-101012602	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188032188	chr5:101012602-101012603	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs544329593	chr5:101012618-101012619	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540435884	chr5:101012623-101012624	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs145889100	chr5:101012633-101012634	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529807151	chr5:101012644-101012645	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs77777382	chr5:101012649-101012650	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs115129829	chr5:101012697-101012698	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528813814	chr5:101012751-101012752	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569395255	chr5:101012767-101012768	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553654798	chr5:101012826-101012827	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571636438	chr5:101012827-101012828	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538601388	chr5:101012829-101012830	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557043955	chr5:101012848-101012849	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192486515	chr5:101012850-101012851	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536326279	chr5:101012853-101012854	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372363908	chr5:101012871-101012872	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1479064	chr5:101012873-101012874	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572917023	chr5:101012874-101012875	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184816469	chr5:101012892-101012893	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558528884	chr5:101012893-101012894	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576783229	chr5:101012908-101012909	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189380404	chr5:101012956-101012957	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562463590	chr5:101012966-101012967	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75365166	chr5:101012981-101012982	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191967548	chr5:101013026-101013027	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561544848	chr5:101013052-101013053	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528649388	chr5:101013168-101013169	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35356774	chr5:101013173-101013174	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547274040	chr5:101013197-101013198	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79620660	chr5:101013218-101013219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13188331	chr5:101013230-101013231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147044522	chr5:101013244-101013245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550589920	chr5:101013259-101013260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114346111	chr5:101013292-101013293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536362859	chr5:101013296-101013297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101011200-101013800	Enhancers	Brain Germinal Matrix	brain
2	chr5:101011600-101012200	Enhancers	A549	lung
3	chr5:101011600-101012800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:101011600-101012800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:101012000-101012200	Enhancers	Hela-S3	cervix
6	chr5:101012200-101012800	Flanking Active TSS	A549	lung
7	chr5:101012800-101013200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr5:101012800-101013200	Enhancers	A549	lung
9	chr5:101012800-101014200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:101013200-101013600	Weak transcription	A549	lung
11	chr5:101013600-101013800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:101013600-101013800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:101013600-101013800	Enhancers	A549	lung
14	chr5:101013600-101014000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:101013600-101014000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:101013600-101014400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:101013600-101014400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:101013800-101014000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:101013800-101014000	Flanking Active TSS	A549	lung
20	chr5:101013800-101014000	Enhancers	NHDF-Ad	bronchial
21	chr5:101013800-101014200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr5:101013800-101014200	Bivalent Enhancer	HepG2	liver
23	chr5:101013800-101014400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:101013800-101014400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr5:101013800-101014400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:101013800-101014400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr5:101013800-101014400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr5:101013800-101014400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:101013800-101014400	Enhancers	Aorta	Aorta
30	chr5:101013800-101014400	Enhancers	Esophagus	oesophagus
31	chr5:101013800-101014600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:101014000-101014200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr5:101014000-101014200	Enhancers	Duodenum Mucosa	Duodenum
34	chr5:101014000-101014200	Active TSS	A549	lung
35	chr5:101014000-101014200	Weak transcription	Hela-S3	cervix
36	chr5:101014000-101014400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr5:101014000-101014400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr5:101014000-101014400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:101014000-101014400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:101014000-101014400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr5:101014000-101014400	Enhancers	Fetal Lung	lung
42	chr5:101014200-101014400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr5:101014200-101014400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:101014200-101014400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:101014200-101014400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr5:101014200-101014400	Enhancers	Adipose Nuclei	Adipose
47	chr5:101014200-101014400	Enhancers	Brain Angular Gyrus	brain
48	chr5:101014200-101014400	Enhancers	Brain Anterior Caudate	brain
49	chr5:101014200-101014400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
50	chr5:101014200-101014400	Enhancers	Brain Substantia Nigra	brain

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