Variant report

Variant	nsv1033485
Chromosome Location	chr5:103487985-103589765
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103580298..103582448-chr5:103583760..103585414,2	MCF-7	breast:
2	chr5:103581733..103583397-chr5:103587148..103588917,2	MCF-7	breast:
3	chr5:103568513..103570154-chr5:103579261..103581624,2	K562	blood:
4	chr5:103574324..103576071-chr5:103577725..103579233,2	K562	blood:
5	chr5:103579485..103581978-chr5:103587465..103589014,2	MCF-7	breast:
6	chr5:103579485..103581978-chr5:103587465..103589014,2	MCF-7	breast:
7	chr5:103488217..103490726-chr5:103523272..103524966,2	K562	blood:
8	chr5:103530400..103532599-chr5:103544330..103547134,2	K562	blood:
9	chr5:103504487..103508742-chr5:103509430..103512265,3	K562	blood:
10	chr5:103143979..103144697-chr5:103514544..103515454,4	K562	blood:
11	chr5:103504487..103508742-chr5:103509430..103512265,3	K562	blood:
12	chr5:103530400..103532599-chr5:103544330..103547134,2	K562	blood:
13	chr5:103574324..103576071-chr5:103577725..103579233,2	K562	blood:
14	chr5:103568513..103570154-chr5:103579261..103581624,2	K562	blood:
15	chr5:103575723..103577605-chr5:103642604..103644571,2	K562	blood:
16	chr5:103547602..103549522-chr5:103555358..103558237,2	K562	blood:
17	chr5:103500874..103502954-chr5:103505978..103507826,2	K562	blood:
18	chr15:100541763..100542576-chr5:103512576..103513415,2	MCF-7	breast:
19	chr5:103519669..103522372-chr5:103523463..103525716,2	K562	blood:
20	chr5:103541472..103544045-chr5:103667629..103669884,2	K562	blood:
21	chr5:103493121..103495084-chr5:103495998..103498553,2	K562	blood:
22	chr5:103488217..103490726-chr5:103523272..103524966,2	K562	blood:
23	chr5:103500874..103502954-chr5:103505978..103507826,2	K562	blood:
24	chr5:103493121..103495084-chr5:103495998..103498553,2	K562	blood:
25	chr5:103581733..103583397-chr5:103587148..103588917,2	MCF-7	breast:
26	chr18:25069473..25070359-chr5:103536312..103537041,2	MCF-7	breast:
27	chr5:103580298..103582448-chr5:103583760..103585414,2	MCF-7	breast:
28	chr5:103519669..103522372-chr5:103523463..103525716,2	K562	blood:
29	chr5:103547602..103549522-chr5:103555358..103558237,2	K562	blood:

No data

Extended variants
information (count: 1252 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1252 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35290293	chr5:103496260-103496261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79002463	chr5:103496278-103496279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187536348	chr5:103496320-103496321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191955286	chr5:103496342-103496343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569589570	chr5:103496378-103496379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142507117	chr5:103496395-103496396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114522975	chr5:103496446-103496447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184247642	chr5:103496507-103496508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534121857	chr5:103496544-103496545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189518781	chr5:103496572-103496573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572829396	chr5:103496578-103496579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538661935	chr5:103496599-103496600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558232586	chr5:103496612-103496613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6861405	chr5:103496637-103496638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140780442	chr5:103496638-103496639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116061092	chr5:103496689-103496690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192775708	chr5:103496732-103496733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540048173	chr5:103496746-103496747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560673500	chr5:103496756-103496757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184344786	chr5:103496765-103496766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35751172	chr5:103496819-103496820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562825697	chr5:103496842-103496843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190803131	chr5:103496853-103496854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6866289	chr5:103496896-103496897	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574597630	chr5:103496923-103496924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181905621	chr5:103496973-103496974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527914153	chr5:103496991-103496992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112413646	chr5:103506409-103506410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574417009	chr5:103506417-103506418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142841306	chr5:103506479-103506480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533234257	chr5:103506498-103506499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537630126	chr5:103506517-103506518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550004101	chr5:103506541-103506542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563453755	chr5:103506563-103506564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529067222	chr5:103506582-103506583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76372764	chr5:103506610-103506611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116660021	chr5:103506656-103506657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113513272	chr5:103506663-103506664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556652491	chr5:103506669-103506670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578070758	chr5:103506690-103506691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551336268	chr5:103506692-103506693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182334635	chr5:103506707-103506708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186685091	chr5:103506708-103506709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557362247	chr5:103506713-103506714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574222782	chr5:103506754-103506755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4423970	chr5:103506757-103506758	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530759933	chr5:103506768-103506769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572135124	chr5:103506808-103506809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554183677	chr5:103506819-103506820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551270097	chr5:103506902-103506903	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103496200-103496800	Enhancers	Fetal Kidney	kidney
2	chr5:103496600-103497000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:103506400-103507000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:103507000-103507400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:103507400-103508400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:103507600-103509000	Enhancers	Hela-S3	cervix
7	chr5:103509000-103510200	Weak transcription	Hela-S3	cervix
8	chr5:103513600-103514600	Weak transcription	Hela-S3	cervix
9	chr5:103514600-103515200	Enhancers	Hela-S3	cervix
10	chr5:103514600-103515600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:103514800-103515000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:103514800-103516200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr5:103515600-103516600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr5:103520000-103520800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:103521200-103525000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:103521400-103521600	Active TSS	Liver	Liver
17	chr5:103521600-103521800	Enhancers	Liver	Liver
18	chr5:103521800-103522000	ZNF genes & repeats	Liver	Liver
19	chr5:103521800-103522000	Enhancers	NHEK	skin
20	chr5:103522000-103522400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:103522000-103522400	Flanking Active TSS	NHEK	skin
22	chr5:103522000-103525000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:103522200-103522800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:103522400-103524600	Weak transcription	NHEK	skin
25	chr5:103524000-103525400	Weak transcription	K562	blood
26	chr5:103524400-103524800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr5:103524400-103524800	Enhancers	Psoas Muscle	Psoas
28	chr5:103524400-103525200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:103524400-103526000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:103524400-103526200	Enhancers	NH-A	brain
31	chr5:103524400-103526200	Enhancers	Osteobl	bone
32	chr5:103524400-103526400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:103524400-103526600	Enhancers	Hela-S3	cervix
34	chr5:103524600-103525800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:103524600-103526200	Enhancers	HMEC	breast
36	chr5:103524600-103526200	Enhancers	NHEK	skin
37	chr5:103524600-103526400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:103524600-103526400	Enhancers	HUVEC	blood vessel
39	chr5:103525400-103525800	Enhancers	K562	blood
40	chr5:103530800-103531400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:103552000-103552600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:103569400-103569800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr5:103572800-103573000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:103573600-103575200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:103575200-103575600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:103575600-103577200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:103576200-103576800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:103576200-103577400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:103576400-103576600	Enhancers	Osteobl	bone
50	chr5:103576400-103576800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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