Variant report

Variant	nsv437467
Chromosome Location	chr5:101150554-101210837
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	chr5:101165091-101165242	K562	blood:	n/a	n/a
2	CEBPB	chr5:101165030-101165279	A549	lung:	n/a	n/a
3	CTCF	chr5:101208760-101208910	MCF-7	breast:	n/a	n/a
4	CTCF	chr5:101207140-101207175	GM10266	blood:	n/a	n/a
5	CTCF	chr5:101152280-101152430	GM12866	blood:	n/a	n/a
6	FOS	chr5:101192647-101192883	MCF10A-Er-Src	breast:	n/a	chr5:101192799-101192806 chr5:101192798-101192807 chr5:101192798-101192806 chr5:101192797-101192806
7	FOSL1	chr5:101199245-101199622	HCT-116	colon:	n/a	n/a
8	GATA3	chr5:101209741-101210085	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr5:101152103-101152277	SH-SY5Y	brain:	n/a	n/a
10	JUN	chr5:101202229-101202533	HepG2	liver:	n/a	chr5:101202366-101202379 chr5:101202367-101202376
11	JUN	chr5:101163464-101163625	K562	blood:	n/a	n/a
12	JUND	chr5:101202228-101202537	HepG2	liver:	n/a	chr5:101202367-101202376
13	KAP1	chr5:101161540-101161848	K562	blood:	n/a	n/a
14	KAP1	chr5:101165450-101166023	K562	blood:	n/a	n/a
15	KAP1	chr5:101179612-101179812	K562	blood:	n/a	n/a
16	MAFK	chr5:101209236-101209320	HepG2	liver:	n/a	n/a
17	MAX	chr5:101201761-101201950	NB4	blood:	n/a	chr5:101201912-101201922
18	POLR2A	chr5:101196177-101196196	MCF-7	breast:	n/a	n/a
19	POLR2A	chr5:101166193-101166389	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:101194038-101194097	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr5:101196204-101196216	MCF-7	breast:	n/a	n/a
22	POLR2A	chr5:101200118-101200137	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr5:101196204-101196240	MCF-7	breast:	n/a	n/a
24	POLR2A	chr5:101196178-101196196	Gliobla	brain:	n/a	n/a
25	POLR2A	chr5:101155133-101155220	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:101196243-101196250	MCF-7	breast:	n/a	n/a
27	POLR2A	chr5:101181805-101181989	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr5:101196280-101196385	MCF-7	breast:	n/a	n/a
29	POLR2A	chr5:101162226-101162363	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr5:101196013-101196198	MCF-7	breast:	n/a	n/a
31	POLR2A	chr5:101196036-101196162	Gliobla	brain:	n/a	n/a
32	POLR2A	chr5:101163935-101164110	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr5:101179960-101180035	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr5:101168421-101168463	MCF10A-Er-Src	breast:	n/a	n/a
35	RAD21	chr5:101178459-101178776	H1-hESC	embryonic stem cell:	n/a	n/a
36	RFX5	chr5:101177287-101177344	K562	blood:	n/a	n/a
37	RFX5	chr5:101157827-101157946	K562	blood:	n/a	n/a
38	STAT3	chr5:101157662-101157934	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr5:101175339-101175752	MCF10A-Er-Src	breast:	n/a	chr5:101175367-101175375
40	STAT3	chr5:101172217-101172288	MCF10A-Er-Src	breast:	n/a	n/a
41	USF2	chr5:101152253-101152399	HepG2	liver:	n/a	n/a
42	ZKSCAN1	chr5:101199438-101199492	Hela-S3	cervix:	n/a	n/a
43	ZNF384	chr5:101187503-101187598	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:101209236..101211408-chr5:101214038..101216724,2	K562	blood:
2	chr5:101006866..101009211-chr5:101203107..101204677,2	MCF-7	breast:

Variant related genes	Relation type
OR7H2P	TF binding region

Extended variants
information (count: 180 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564987804	chr5:101155201-101155202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570035997	chr5:101172643-101172644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181627272	chr5:101172664-101172665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560713045	chr5:101172670-101172671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1114782	chr5:101172700-101172701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186267858	chr5:101172719-101172720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552628860	chr5:101172749-101172750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190681282	chr5:101172773-101172774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182514220	chr5:101172780-101172781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187258983	chr5:101172781-101172782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1114783	chr5:101172787-101172788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs137975016	chr5:101172801-101172802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149622057	chr5:101172818-101172819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1080860	chr5:101172832-101172833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs201449099	chr5:101172835-101172836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565574406	chr5:101172846-101172847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539600502	chr5:101172851-101172852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553087444	chr5:101173025-101173026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569894928	chr5:101173138-101173139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189723960	chr5:101173289-101173290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536905408	chr5:101173334-101173335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144324602	chr5:101173344-101173345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535260574	chr5:101173354-101173355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182987461	chr5:101173355-101173356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148802127	chr5:101173421-101173422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553087397	chr5:101173433-101173434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117322877	chr5:101173538-101173539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188689689	chr5:101173561-101173562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111503824	chr5:101173587-101173588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564488275	chr5:101173588-101173589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535491861	chr5:101173591-101173592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532035427	chr5:101173592-101173593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538911721	chr5:101173601-101173602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193300694	chr5:101173613-101173614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79291407	chr5:101173640-101173641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529236105	chr5:101173661-101173662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144887942	chr5:101173672-101173673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576006910	chr5:101173680-101173681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79347588	chr5:101173687-101173688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533238490	chr5:101173698-101173699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183403419	chr5:101173721-101173722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569701358	chr5:101173773-101173774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59958140	chr5:101173823-101173824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116148349	chr5:101173836-101173837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375113869	chr5:101173839-101173840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567304270	chr5:101173928-101173929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79285014	chr5:101173938-101173939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147458695	chr5:101173942-101173943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532077168	chr5:101173959-101173960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577828894	chr5:101173980-101173981	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Bipolar disorder	19114987	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101172600-101174600	Enhancers	Fetal Heart	heart
2	chr5:101173400-101174600	Enhancers	Fetal Brain Male	brain
3	chr5:101173600-101174800	Enhancers	Fetal Lung	lung
4	chr5:101174000-101174600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:101174200-101174600	Enhancers	Aorta	Aorta
6	chr5:101182200-101182600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:101195800-101196400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:101196000-101196200	Enhancers	Gastric	stomach
9	chr5:101196200-101196600	Active TSS	Gastric	stomach
10	chr5:101204400-101205200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:101204800-101205000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:101205000-101205200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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