Variant report

Variant	nsv462316
Chromosome Location	chr5:99268324-99290311
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	chr5:99275443-99275530	K562	blood:	n/a	chr5:99275488-99275499
2	CEBPB	chr5:99275346-99275667	A549	lung:	n/a	chr5:99275488-99275499
3	CEBPB	chr5:99280745-99280940	H1-hESC	embryonic stem cell:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
4	CEBPB	chr5:99281714-99281914	HepG2	liver:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
5	CEBPB	chr5:99275354-99275668	IMR90	lung:	n/a	chr5:99275488-99275499
6	CEBPB	chr5:99287782-99288036	A549	lung:	n/a	chr5:99287911-99287922
7	CEBPB	chr5:99280601-99280858	HepG2	liver:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
8	CEBPB	chr5:99287769-99288059	HepG2	liver:	n/a	chr5:99287911-99287922
9	CEBPB	chr5:99287763-99288089	IMR90	lung:	n/a	chr5:99287911-99287922
10	CEBPB	chr5:99275330-99275682	HepG2	liver:	n/a	chr5:99275488-99275499
11	CEBPB	chr5:99281660-99281902	A549	lung:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
12	CEBPB	chr5:99280572-99280892	A549	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
13	CEBPB	chr5:99280607-99280936	IMR90	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
14	CTCF	chr5:99287120-99287270	GM12864	blood:	n/a	n/a
15	E2F4	chr5:99269153-99269495	MCF10A-Er-Src	breast:	n/a	chr5:99269164-99269173
16	EBF1	chr5:99272555-99272980	GM12878	blood:	n/a	chr5:99272773-99272784
17	EBF1	chr5:99270596-99270892	GM12878	blood:	n/a	chr5:99270748-99270759
18	FOS	chr5:99272325-99272987	HUVEC	blood vessel:	n/a	chr5:99272756-99272767
19	IRF1	chr5:99277028-99277044	K562	blood:	n/a	n/a
20	JUN	chr5:99272606-99272642	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUN	chr5:99281721-99281849	HepG2	liver:	n/a	chr5:99281773-99281786
22	JUN	chr5:99282401-99282538	HepG2	liver:	n/a	n/a
23	KAP1	chr5:99269643-99269913	K562	blood:	n/a	n/a
24	MAZ	chr5:99272816-99272825	HepG2	liver:	n/a	n/a
25	MYC	chr5:99285729-99285816	MCF-7	breast:	n/a	n/a
26	MYC	chr5:99277073-99277212	H1-hESC	embryonic stem cell:	n/a	n/a
27	NFYB	chr5:99288286-99288478	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:99285791-99286112	MCF-7	breast:	n/a	n/a
29	POLR2A	chr5:99278837-99279003	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr5:99268584-99268884	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr5:99273578-99273670	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr5:99273725-99273736	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr5:99273196-99273423	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr5:99269664-99269856	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr5:99285987-99286144	MCF-7	breast:	n/a	n/a
36	POLR2A	chr5:99286967-99287178	MCF-7	breast:	n/a	n/a
37	POLR2A	chr5:99285897-99285912	MCF-7	breast:	n/a	n/a
38	SRF	chr5:99276170-99276629	HCT-116	colon:	n/a	chr5:99276419-99276437
39	SRF	chr5:99276204-99276678	H1-hESC	embryonic stem cell:	n/a	chr5:99276419-99276437
40	SRF	chr5:99276220-99276698	ECC-1	luminal epithelium:	n/a	chr5:99276419-99276437
41	SRF	chr5:99276330-99276523	HepG2	liver:	n/a	chr5:99276419-99276437
42	SRF	chr5:99276201-99276647	H1-hESC	embryonic stem cell:	n/a	chr5:99276419-99276437
43	SRF	chr5:99276335-99276491	HepG2	liver:	n/a	chr5:99276419-99276437
44	STAT3	chr5:99283420-99283491	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr5:99287489-99287663	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr5:99284087-99284232	MCF10A-Er-Src	breast:	n/a	n/a
47	TCF7L2	chr5:99273349-99273918	HepG2	liver:	n/a	chr5:99273791-99273801 chr5:99273696-99273703 chr5:99273788-99273802 chr5:99273787-99273803 chr5:99273787-99273803

No.	Distal block	Cell Line	Cell type
1	chr5:99281632..99283428-chr5:99288358..99290129,2	MCF-7	breast:
2	chr5:99279070..99281321-chr9:113352239..113355129,2	MCF-7	breast:
3	chr5:99272528..99274253-chr5:99280354..99282185,2	K562	blood:
4	chr5:99272528..99274253-chr5:99280354..99282185,2	K562	blood:
5	chr5:99281632..99283428-chr5:99288358..99290129,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250391	TF binding region

Extended variants
information (count: 192 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:192 , 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	rs536746682	chr5:99281409-99281410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549016497	chr5:99281464-99281465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148863562	chr5:99281483-99281484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534785780	chr5:99281540-99281541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193198867	chr5:99281611-99281612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577984355	chr5:99281612-99281613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370054685	chr5:99281633-99281634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538973942	chr5:99281652-99281653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577209738	chr5:99281669-99281670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558178628	chr5:99281755-99281756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4235630	chr5:99281756-99281757	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543460068	chr5:99281758-99281759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371391553	chr5:99281823-99281824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562177916	chr5:99281867-99281868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143398971	chr5:99281869-99281870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78484741	chr5:99281879-99281880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4235631	chr5:99281990-99281991	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs113042997	chr5:99285744-99285745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs899056	chr5:99285749-99285750	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs149605688	chr5:99285791-99285792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs144349019	chr5:99285802-99285803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs553192864	chr5:99285803-99285804	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs541951753	chr5:99285880-99285881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs553685080	chr5:99285887-99285888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs575053628	chr5:99285944-99285945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs571865380	chr5:99285959-99285960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs183131806	chr5:99285994-99285995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs148777754	chr5:99286002-99286003	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs370630472	chr5:99286034-99286035	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs144910339	chr5:99286037-99286038	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs73775961	chr5:99286084-99286085	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562940591	chr5:99286095-99286096	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530133743	chr5:99286118-99286119	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs543799884	chr5:99286184-99286185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548617130	chr5:99286209-99286210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368028839	chr5:99286218-99286219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546222105	chr5:99286219-99286220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147967285	chr5:99286293-99286294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552827694	chr5:99286307-99286308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73775962	chr5:99286330-99286331	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs72767588	chr5:99286346-99286347	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188460164	chr5:99286379-99286380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568096677	chr5:99286398-99286399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535111366	chr5:99286408-99286409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543408518	chr5:99286416-99286417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564969622	chr5:99286474-99286475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571827368	chr5:99286542-99286543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564941987	chr5:99286543-99286544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527405309	chr5:99286559-99286560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545569985	chr5:99286581-99286582	Weak transcription 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
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99281400-99282000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:99286000-99286200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:99286000-99287200	Enhancers	Spleen	Spleen
4	chr5:99286200-99293400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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