Variant report

Variant	nsv882528
Chromosome Location	chr5:103523803-103593756
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	chr5:103547602..103549522-chr5:103555358..103558237,2	K562	blood:
2	chr5:103547602..103549522-chr5:103555358..103558237,2	K562	blood:
3	chr5:103488217..103490726-chr5:103523272..103524966,2	K562	blood:
4	chr5:103580298..103582448-chr5:103583760..103585414,2	MCF-7	breast:
5	chr5:103575723..103577605-chr5:103642604..103644571,2	K562	blood:
6	chr5:103579485..103581978-chr5:103587465..103589014,2	MCF-7	breast:
7	chr5:103530400..103532599-chr5:103544330..103547134,2	K562	blood:
8	chr5:103519669..103522372-chr5:103523463..103525716,2	K562	blood:
9	chr5:103581733..103583397-chr5:103587148..103588917,2	MCF-7	breast:
10	chr5:103568513..103570154-chr5:103579261..103581624,2	K562	blood:
11	chr5:103574324..103576071-chr5:103577725..103579233,2	K562	blood:
12	chr5:103574324..103576071-chr5:103577725..103579233,2	K562	blood:
13	chr5:103541472..103544045-chr5:103667629..103669884,2	K562	blood:
14	chr5:103579485..103581978-chr5:103587465..103589014,2	MCF-7	breast:
15	chr18:25069473..25070359-chr5:103536312..103537041,2	MCF-7	breast:
16	chr5:103530400..103532599-chr5:103544330..103547134,2	K562	blood:
17	chr5:103580298..103582448-chr5:103583760..103585414,2	MCF-7	breast:
18	chr5:103581733..103583397-chr5:103587148..103588917,2	MCF-7	breast:
19	chr5:103568513..103570154-chr5:103579261..103581624,2	K562	blood:

No data

Extended variants
information (count: 954 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:954 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6596566	chr5:103523803-103523804	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375569567	chr5:103523816-103523817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151149638	chr5:103523821-103523822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182167448	chr5:103523841-103523842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549650241	chr5:103523849-103523850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141104523	chr5:103523853-103523854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146966481	chr5:103523876-103523877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185820640	chr5:103523893-103523894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190325713	chr5:103523956-103523957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115267452	chr5:103523958-103523959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556234532	chr5:103523973-103523974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117411040	chr5:103524008-103524009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114078835	chr5:103524071-103524072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535409928	chr5:103524083-103524084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185339431	chr5:103524115-103524116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572160316	chr5:103524124-103524125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541189024	chr5:103524127-103524128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564246156	chr5:103524157-103524158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115353134	chr5:103524173-103524174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543503587	chr5:103524174-103524175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373480309	chr5:103524186-103524187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529266345	chr5:103524193-103524194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114088711	chr5:103524212-103524213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559961651	chr5:103524218-103524219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145616739	chr5:103524254-103524255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146772211	chr5:103524255-103524256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567335365	chr5:103524302-103524303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138873222	chr5:103524307-103524308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571859670	chr5:103524311-103524312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149436599	chr5:103524331-103524332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189859054	chr5:103524348-103524349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569701153	chr5:103524404-103524405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535391244	chr5:103524410-103524411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555394453	chr5:103524411-103524412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144828192	chr5:103524432-103524433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182487100	chr5:103524436-103524437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551224466	chr5:103524441-103524442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73775552	chr5:103524473-103524474	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117850612	chr5:103524483-103524484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189252382	chr5:103524489-103524490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376261604	chr5:103524491-103524492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191939911	chr5:103524514-103524515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569472389	chr5:103524589-103524590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573966497	chr5:103524595-103524596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542979590	chr5:103524620-103524621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559804069	chr5:103524652-103524653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528821929	chr5:103524671-103524672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545711604	chr5:103524679-103524680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370339730	chr5:103524686-103524687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565505821	chr5:103524698-103524699	Enhancers Weak transcription	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103521200-103525000	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr5:103522000-103525000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr5:103522400-103524600	Weak transcription	NHEK	skin
4	chr5:103524000-103525400	Weak transcription	K562	blood
5	chr5:103524400-103524800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr5:103524400-103524800	Enhancers	Psoas Muscle	Psoas
7	chr5:103524400-103525200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:103524400-103526000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:103524400-103526200	Enhancers	NH-A	brain
10	chr5:103524400-103526200	Enhancers	Osteobl	bone
11	chr5:103524400-103526400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:103524400-103526600	Enhancers	Hela-S3	cervix
13	chr5:103524600-103525800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:103524600-103526200	Enhancers	HMEC	breast
15	chr5:103524600-103526200	Enhancers	NHEK	skin
16	chr5:103524600-103526400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:103524600-103526400	Enhancers	HUVEC	blood vessel
18	chr5:103525400-103525800	Enhancers	K562	blood
19	chr5:103530800-103531400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:103552000-103552600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:103569400-103569800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:103572800-103573000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:103573600-103575200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:103575200-103575600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:103575600-103577200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:103576200-103576800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:103576200-103577400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:103576400-103576600	Enhancers	Osteobl	bone
29	chr5:103576400-103576800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:103576400-103577200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:103576400-103577400	Enhancers	Colon Smooth Muscle	Colon
32	chr5:103576600-103577000	Enhancers	Adipose Nuclei	Adipose
33	chr5:103576600-103577000	Enhancers	Brain Germinal Matrix	brain
34	chr5:103576600-103577200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:103576600-103577200	Flanking Active TSS	Osteobl	bone
36	chr5:103576800-103577000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:103576800-103577200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:103576800-103577200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:103576800-103577200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:103576800-103577200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:103576800-103577200	Enhancers	Fetal Brain Female	brain
42	chr5:103576800-103577200	Enhancers	Fetal Muscle Leg	muscle
43	chr5:103576800-103577200	Enhancers	Psoas Muscle	Psoas
44	chr5:103576800-103577200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr5:103576800-103577200	Enhancers	NHEK	skin
46	chr5:103576800-103577400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:103577200-103603200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:103587800-103588200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:103588000-103588400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:103588000-103588400	Enhancers	NHEK	skin

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