Variant report

Variant	nsv599269
Chromosome Location	chr5:104465639-104565742
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104545961..104548123-chr5:104549429..104551527,2	K562	blood:
2	chr5:104482838..104485793-chr5:104489379..104492370,3	MCF-7	breast:
3	chr5:104542507..104545042-chr5:104552566..104554250,2	K562	blood:
4	chr5:104542507..104545042-chr5:104552566..104554250,2	K562	blood:
5	chr5:104545106..104548123-chr5:104549429..104551527,3	K562	blood:
6	chr5:104551002..104553954-chr5:104571477..104574357,2	MCF-7	breast:
7	chr5:104545106..104548123-chr5:104549429..104551527,3	K562	blood:
8	chr5:104540117..104542340-chr5:104543485..104546477,2	MCF-7	breast:
9	chr5:104528561..104530726-chr5:104532311..104534213,2	K562	blood:
10	chr5:104545961..104548123-chr5:104549429..104551527,2	K562	blood:
11	chr5:104565194..104566957-chr5:104571048..104573999,2	K562	blood:
12	chr5:104524711..104526370-chr5:104889242..104892104,2	K562	blood:
13	chr12:23105697..23106553-chr5:104539343..104540254,2	MCF-7	breast:
14	chr5:104564496..104566595-chr5:104574532..104577348,2	K562	blood:
15	chr5:104540117..104542340-chr5:104543485..104546477,2	MCF-7	breast:
16	chr5:104512964..104515332-chr5:104570864..104572424,2	K562	blood:
17	chr5:104528561..104530726-chr5:104532311..104534213,2	K562	blood:
18	chr5:104482838..104485793-chr5:104489379..104492370,3	MCF-7	breast:

No data

Extended variants
information (count: 942 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35372162	chr5:104468251-104468252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35874247	chr5:104468276-104468277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113282533	chr5:104468286-104468287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567672099	chr5:104468303-104468304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75324829	chr5:104468333-104468334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547160967	chr5:104468399-104468400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113486277	chr5:104468401-104468402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566841620	chr5:104468406-104468407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115212270	chr5:104468435-104468436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557647621	chr5:104468519-104468520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192639438	chr5:104468548-104468549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536964089	chr5:104468577-104468578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561983592	chr5:104468583-104468584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74355166	chr5:104468627-104468628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184485364	chr5:104468632-104468633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148408688	chr5:104468637-104468638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541049944	chr5:104468662-104468663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545058576	chr5:104468668-104468669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573978185	chr5:104468692-104468693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565351200	chr5:104468730-104468731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77453892	chr5:104468752-104468753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75935338	chr5:104468762-104468763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549768611	chr5:104468794-104468795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116340791	chr5:104468798-104468799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188964419	chr5:104469401-104469402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560301259	chr5:104469411-104469412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534764873	chr5:104469441-104469442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151112586	chr5:104469442-104469443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140017754	chr5:104469471-104469472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569334951	chr5:104469473-104469474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7730582	chr5:104469522-104469523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145541850	chr5:104469591-104469592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201026075	chr5:104469597-104469598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200571604	chr5:104469598-104469599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201713976	chr5:104469599-104469600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78436042	chr5:104469600-104469601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114084737	chr5:104469659-104469660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568010729	chr5:104469703-104469704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536154666	chr5:104469712-104469713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553188362	chr5:104469753-104469754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181684454	chr5:104469759-104469760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538625039	chr5:104469789-104469790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558408097	chr5:104469791-104469792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535434337	chr5:104469864-104469865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185685826	chr5:104469870-104469871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375746878	chr5:104469873-104469874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190504623	chr5:104469897-104469898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180840374	chr5:104469939-104469940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551658213	chr5:104469988-104469989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186021272	chr5:104470000-104470001	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	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
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104468200-104468800	Enhancers	Brain Germinal Matrix	brain
2	chr5:104469400-104470600	Enhancers	Liver	Liver
3	chr5:104472600-104473200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:104473200-104474200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:104474200-104474400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:104485600-104486600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:104486000-104486600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:104488800-104489000	Enhancers	Fetal Lung	lung
9	chr5:104489000-104490800	Weak transcription	Fetal Lung	lung
10	chr5:104490800-104491200	ZNF genes & repeats	Fetal Lung	lung
11	chr5:104492600-104492800	ZNF genes & repeats	Aorta	Aorta
12	chr5:104492800-104494200	Weak transcription	Aorta	Aorta
13	chr5:104494000-104495600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:104503600-104504400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:104503800-104504400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:104503800-104504600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:104503800-104504600	Enhancers	Hela-S3	cervix
18	chr5:104504400-104505400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:104505800-104506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:104512000-104512400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr5:104541800-104542600	Enhancers	Brain Germinal Matrix	brain
22	chr5:104550000-104550400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:104550200-104550600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:104550200-104550600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:104550200-104550600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:104550200-104550800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:104550400-104550600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:104550600-104552600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:104550800-104554800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:104552600-104553600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:104553000-104553800	Enhancers	Brain Germinal Matrix	brain
32	chr5:104553200-104554200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:104553600-104555200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:104554200-104554600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:104554600-104555400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:104554800-104555200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:104555000-104556600	Enhancers	Primary hematopoietic stem cells	blood
38	chr5:104555200-104555400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:104555400-104555800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:104555800-104557400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:104556200-104556600	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:104565200-104565400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:104565400-104565800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:104565600-104566600	Enhancers	K562	blood

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