Variant report

Variant	nsv1020845
Chromosome Location	chr5:105293909-105419788
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:105358616..105362341-chr5:105362697..105365836,3	K562	blood:
2	chr5:105350170..105353014-chr5:105353588..105356081,2	MCF-7	breast:
3	chr5:105350170..105353014-chr5:105353588..105356081,2	MCF-7	breast:
4	chr5:105277877..105279984-chr5:105291624..105293914,2	K562	blood:
5	chr5:105355969..105357531-chr5:105359984..105362955,2	MCF-7	breast:
6	chr5:105390923..105392932-chr5:105396217..105399013,2	MCF-7	breast:
7	chr5:105358616..105362341-chr5:105362697..105365836,3	K562	blood:
8	chr5:105390923..105392932-chr5:105396217..105399013,2	MCF-7	breast:
9	chr5:105355969..105357531-chr5:105359984..105362955,2	MCF-7	breast:

No data

Extended variants
information (count: 1191 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1191 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537154513	chr5:105297897-105297898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556739185	chr5:105297927-105297928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573621018	chr5:105297932-105297933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535841220	chr5:105297933-105297934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553278816	chr5:105297961-105297962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573182083	chr5:105297964-105297965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567399715	chr5:105299206-105299207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12521600	chr5:105299278-105299279	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569437669	chr5:105299294-105299295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182861733	chr5:105299302-105299303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554886332	chr5:105299328-105299329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575040505	chr5:105299330-105299331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138916240	chr5:105299340-105299341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554299635	chr5:105299398-105299399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62378698	chr5:105299436-105299437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577357399	chr5:105299452-105299453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187956578	chr5:105299467-105299468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565218496	chr5:105299483-105299484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12519920	chr5:105299490-105299491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192987810	chr5:105299515-105299516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560750158	chr5:105299551-105299552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529796159	chr5:105299597-105299598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141545906	chr5:105299617-105299618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566210424	chr5:105299619-105299620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78679834	chr5:105299621-105299622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551903663	chr5:105299649-105299650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72781268	chr5:105299683-105299684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185099310	chr5:105299688-105299689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572335931	chr5:105299777-105299778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548860481	chr5:105299788-105299789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189040073	chr5:105299837-105299838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201071653	chr5:105299841-105299842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13177603	chr5:105299864-105299865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561224590	chr5:105299882-105299883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374627684	chr5:105299890-105299891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540084878	chr5:105299917-105299918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368405262	chr5:105299981-105299982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576487028	chr5:105300041-105300042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544381790	chr5:105300051-105300052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539884417	chr5:105300069-105300070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139324248	chr5:105300098-105300099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574115258	chr5:105300116-105300117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556305155	chr5:105300127-105300128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576338861	chr5:105300296-105300297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372081046	chr5:105300302-105300303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544187783	chr5:105300328-105300329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192192596	chr5:105300400-105300401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200489299	chr5:105300410-105300411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574321980	chr5:105300417-105300418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540023454	chr5:105300473-105300474	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105297800-105298000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:105299200-105301000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:105299600-105300000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:105299800-105300200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:105304600-105305200	Enhancers	Hela-S3	cervix
6	chr5:105313000-105314600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:105314200-105314600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr5:105318000-105318200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:105318000-105318200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:105318200-105318600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:105318200-105320200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:105327200-105327800	Enhancers	Fetal Brain Male	brain
13	chr5:105333600-105333800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:105334000-105335000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:105335000-105335400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:105335000-105335400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:105335000-105335400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:105339800-105340600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:105339800-105341000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:105340000-105340400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:105340000-105340600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:105340000-105340600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:105340000-105340800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:105340000-105340800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:105340000-105341000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:105340800-105352400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:105350200-105350600	Enhancers	Colon Smooth Muscle	Colon
28	chr5:105350200-105350800	Enhancers	Ovary	ovary
29	chr5:105350200-105351400	Enhancers	Adipose Nuclei	Adipose
30	chr5:105351400-105352400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:105351400-105354600	Weak transcription	Adipose Nuclei	Adipose
32	chr5:105351800-105353400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:105352400-105352800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:105352400-105353200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:105352400-105353400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:105352400-105353600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:105352600-105353200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:105352800-105353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:105353000-105353400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:105353200-105355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:105354600-105355400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:105354600-105356000	Enhancers	Adipose Nuclei	Adipose
43	chr5:105354600-105356600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:105354800-105356600	Enhancers	Osteobl	bone
45	chr5:105355200-105355600	Enhancers	Aorta	Aorta
46	chr5:105355200-105355800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr5:105355400-105356400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:105356400-105357000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:105406800-105407600	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr5:105415200-105415400	Enhancers	HUES48 Cell Line	embryonic stem cell

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