Variant report

Variant	nsv599191
Chromosome Location	chr5:101652251-101745019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:101697180-101697573	Hela-S3	cervix:	n/a	chr5:101697241-101697252
2	CEBPB	chr5:101697172-101697382	HepG2	liver:	n/a	chr5:101697241-101697252
3	CEBPB	chr5:101677430-101678074	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr5:101711009-101711381	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr5:101707622-101707804	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:101697133-101697334	A549	lung:	n/a	chr5:101697241-101697252
7	CEBPB	chr5:101697160-101697335	H1-hESC	embryonic stem cell:	n/a	chr5:101697241-101697252
8	CTCF	chr5:101656210-101656244	Lung_OC	lung:	n/a	n/a
9	CTCF	chr5:101652802-101652851	GM10248	blood:	n/a	n/a
10	CTCF	chr5:101664920-101665070	GM12870	blood:	n/a	n/a
11	CTCF	chr5:101655320-101655470	RPTEC	kidney:	n/a	n/a
12	CTCF	chr5:101655625-101655678	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr5:101655640-101655790	RPTEC	kidney:	n/a	n/a
14	CTCF	chr5:101721932-101721948	GM10266	blood:	n/a	n/a
15	CTCF	chr5:101706800-101706950	AG09309	skin:	n/a	n/a
16	CTCF	chr5:101691750-101691798	Medullo	brain:	n/a	n/a
17	CTCF	chr5:101680400-101680550	RPTEC	kidney:	n/a	n/a
18	CTCF	chr5:101680400-101680550	GM12874	blood:	n/a	n/a
19	CTCF	chr5:101744660-101744810	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr5:101713573-101713670	GM10248	blood:	n/a	n/a
21	CTCF	chr5:101675920-101676070	GM12869	blood:	n/a	n/a
22	CTCF	chr5:101680500-101680650	RPTEC	kidney:	n/a	n/a
23	CTCF	chr5:101682904-101682957	GM10248	blood:	n/a	n/a
24	CTCF	chr5:101742844-101742877	GM19239	blood:	n/a	n/a
25	CTCF	chr5:101680427-101680490	GM13977	blood:	n/a	n/a
26	CTCF	chr5:101705640-101705746	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr5:101722500-101722650	GM12869	blood:	n/a	n/a
28	CUX1	chr5:101735662-101735693	GM12878	blood:	n/a	n/a
29	E2F4	chr5:101672740-101672851	MCF10A-Er-Src	breast:	n/a	n/a
30	EP300	chr5:101697306-101697564	Hela-S3	cervix:	n/a	chr5:101697421-101697429
31	EP300	chr5:101660114-101661341	SK-N-SH	brain:	n/a	chr5:101661239-101661253 chr5:101661240-101661254 chr5:101660176-101660183
32	EP300	chr5:101677481-101678036	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr5:101711063-101711367	Hela-S3	cervix:	n/a	n/a
34	EP300	chr5:101660426-101660868	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr5:101677473-101678071	SK-N-SH_RA	brain:	n/a	n/a
36	EP300	chr5:101660326-101660817	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr5:101676659-101678367	SK-N-SH	brain:	n/a	n/a
38	FAM48A	chr5:101744738-101744882	GM12878	blood:	n/a	n/a
39	FOS	chr5:101716042-101716079	MCF10A-Er-Src	breast:	n/a	chr5:101716057-101716067 chr5:101716056-101716068 chr5:101716058-101716067 chr5:101716058-101716066 chr5:101716059-101716066 chr5:101716057-101716066
40	FOS	chr5:101735005-101735205	HUVEC	blood vessel:	n/a	n/a
41	FOS	chr5:101715881-101716150	MCF10A-Er-Src	breast:	n/a	chr5:101716057-101716067 chr5:101716056-101716068 chr5:101716058-101716067 chr5:101716058-101716066 chr5:101716059-101716066 chr5:101716057-101716066
42	FOS	chr5:101673794-101673994	MCF10A-Er-Src	breast:	n/a	chr5:101673894-101673906 chr5:101673897-101673904 chr5:101673896-101673905 chr5:101673896-101673904 chr5:101673892-101673903 chr5:101673895-101673904 chr5:101673895-101673905
43	FOS	chr5:101677716-101678040	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr5:101715910-101716183	MCF10A-Er-Src	breast:	n/a	chr5:101716057-101716067 chr5:101716056-101716068 chr5:101716058-101716067 chr5:101716058-101716066 chr5:101716059-101716066 chr5:101716057-101716066
45	GATA2	chr5:101677230-101678032	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr5:101677513-101678044	SK-N-SH	brain:	n/a	n/a
47	GATA3	chr5:101660874-101661244	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr5:101683119-101683293	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr5:101714878-101715358	MCF-7	breast:	n/a	n/a
50	GATA3	chr5:101658774-101658965	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:101721756..101723696-chr5:101735841..101738611,2	MCF-7	breast:
2	chr5:101695964..101697659-chr5:101699587..101702225,2	K562	blood:
3	chr5:101709356..101712161-chr5:101716526..101719065,2	MCF-7	breast:
4	chr5:101709356..101712161-chr5:101716526..101719065,2	MCF-7	breast:
5	chr5:101721756..101723696-chr5:101735841..101738611,2	MCF-7	breast:
6	chr5:101725894..101726537-chr6:67534604..67535331,2	MCF-7	breast:
7	chr5:101695964..101697659-chr5:101699587..101702225,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO4C1-1	chr5:101724392-101724529	NONHSAT103025
2	lnc-SLCO4C1-1	chr5:101709041-101709198	NONHSAT103025
3	lnc-SLCO4C1-1	chr5:101707649-101707775	NONHSAT103025
4	lnc-SLCO4C1-1	chr5:101726685-101726933	NONHSAT103025

Variant related genes	Relation type
SLCO6A1	TF binding region

Extended variants
information (count: 579 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7708441	chr5:101652251-101652252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28421510	chr5:101652252-101652253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564162197	chr5:101652259-101652260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559261923	chr5:101652270-101652271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531481618	chr5:101652296-101652297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549782006	chr5:101652380-101652381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534168061	chr5:101652381-101652382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571069272	chr5:101652454-101652455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181107266	chr5:101652489-101652490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375605156	chr5:101652517-101652518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78015059	chr5:101652518-101652519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185752610	chr5:101652564-101652565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535363775	chr5:101652624-101652625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567061250	chr5:101652640-101652641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190668005	chr5:101652661-101652662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536890883	chr5:101652665-101652666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553280928	chr5:101652692-101652693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182958836	chr5:101652749-101652750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187128139	chr5:101652758-101652759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575009223	chr5:101652807-101652808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537981238	chr5:101652821-101652822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556252576	chr5:101652837-101652838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574466179	chr5:101652853-101652854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10077220	chr5:101652857-101652858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576180386	chr5:101652876-101652877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554265804	chr5:101652903-101652904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2084825	chr5:101652987-101652988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192468048	chr5:101652993-101652994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140608894	chr5:101653037-101653038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558789284	chr5:101653038-101653039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561768411	chr5:101653060-101653061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183425152	chr5:101653183-101653184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567635434	chr5:101653189-101653190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565139823	chr5:101653209-101653210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1584714	chr5:101653357-101653358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1584715	chr5:101653362-101653363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187218863	chr5:101653443-101653444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570674725	chr5:101653495-101653496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115243392	chr5:101653516-101653517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192134581	chr5:101653522-101653523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182415919	chr5:101653552-101653553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2895807	chr5:101653570-101653571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs111846549	chr5:101653588-101653589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572283537	chr5:101653597-101653598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13359604	chr5:101653600-101653601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187099150	chr5:101653605-101653606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192244759	chr5:101653636-101653637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543649890	chr5:101653669-101653670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111342043	chr5:101653676-101653677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373278282	chr5:101653693-101653694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101648600-101654000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:101648800-101653800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:101649000-101654200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:101653800-101654400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:101654000-101654200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:101654200-101654400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:101654200-101656000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:101654400-101654600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr5:101654400-101655000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr5:101654600-101655800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:101655000-101656600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:101660400-101660800	Enhancers	Brain Germinal Matrix	brain
13	chr5:101660400-101660800	Enhancers	Fetal Muscle Leg	muscle
14	chr5:101664800-101665000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:101664800-101665000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:101673200-101673800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:101673800-101676800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:101675400-101676800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:101676600-101678000	Enhancers	Fetal Muscle Leg	muscle
20	chr5:101676800-101677000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:101676800-101678000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:101676800-101678200	Enhancers	Brain Germinal Matrix	brain
23	chr5:101676800-101678200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr5:101677000-101677400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:101677000-101678000	Enhancers	Fetal Lung	lung
26	chr5:101677000-101678400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:101677200-101678000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:101677200-101678200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr5:101677400-101678000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:101677400-101678000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:101677400-101678200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:101677600-101677800	Enhancers	Psoas Muscle	Psoas
33	chr5:101678000-101679000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:101679000-101679200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:101685200-101685800	Active TSS	Fetal Heart	heart
36	chr5:101710600-101711000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:101710800-101711200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:101711000-101711200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:101711000-101711800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:101711000-101711800	Active TSS	Aorta	Aorta
41	chr5:101711200-101711800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:101722000-101722200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:101742800-101743000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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