Variant report

Variant	nsv882443
Chromosome Location	chr5:99398570-99518198
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	ATF2	chr5:99500941-99501405	GM12878	blood:	n/a	n/a
2	BATF	chr5:99432041-99432354	GM12878	blood:	n/a	n/a
3	BATF	chr5:99501052-99501415	GM12878	blood:	n/a	chr5:99501194-99501205
4	BATF	chr5:99501068-99501408	GM12878	blood:	n/a	chr5:99501194-99501205
5	BATF	chr5:99432046-99432361	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:99501084-99501317	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:99501044-99501395	GM12878	blood:	n/a	n/a
8	BCL11A	chr5:99432032-99432400	GM12878	blood:	n/a	n/a
9	BCL3	chr5:99501083-99501319	GM12878	blood:	n/a	n/a
10	BCLAF1	chr5:99501079-99501347	GM12878	blood:	n/a	n/a
11	BCLAF1	chr5:99501053-99501362	GM12878	blood:	n/a	n/a
12	CBX3	chr5:99497665-99498015	HCT-116	colon:	n/a	n/a
13	CCNT2	chr5:99475755-99475914	K562	blood:	n/a	n/a
14	CEBPB	chr5:99465998-99466328	HepG2	liver:	n/a	chr5:99466168-99466179
15	CEBPB	chr5:99465993-99466301	IMR90	lung:	n/a	chr5:99466168-99466179
16	CEBPB	chr5:99466058-99466322	K562	blood:	n/a	chr5:99466168-99466179
17	CEBPB	chr5:99471203-99471463	HepG2	liver:	n/a	chr5:99471302-99471313
18	CEBPB	chr5:99471191-99471449	A549	lung:	n/a	chr5:99471302-99471313
19	CEBPB	chr5:99466071-99466271	H1-hESC	embryonic stem cell:	n/a	chr5:99466168-99466179
20	CEBPB	chr5:99465947-99466290	MCF-7	breast:	n/a	chr5:99466168-99466179
21	CEBPB	chr5:99466026-99466294	A549	lung:	n/a	chr5:99466168-99466179
22	CEBPB	chr5:99459046-99459273	HepG2	liver:	n/a	chr5:99459170-99459181
23	CEBPB	chr5:99494768-99494900	HepG2	liver:	n/a	n/a
24	CTCF	chr5:99403523-99403735	K562	blood:	n/a	n/a
25	CTCF	chr5:99436216-99436313	Fibrobl	skin:	n/a	n/a
26	CTCF	chr5:99433226-99433342	MCF-7	breast:	n/a	n/a
27	CTCF	chr5:99501152-99501184	ProgFib	skin:	n/a	n/a
28	CTCF	chr5:99399618-99399637	Medullo	brain:	n/a	n/a
29	CTCF	chr5:99415375-99415410	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr5:99418113-99418132	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr5:99436546-99436605	MCF-7	breast:	n/a	n/a
32	CTCF	chr5:99501304-99501321	IMR90	lung:	n/a	n/a
33	CTCF	chr5:99402240-99402285	GM13976	blood:	n/a	n/a
34	CTCF	chr5:99414320-99414407	Lung_OC	lung:	n/a	n/a
35	CTCF	chr5:99494559-99494603	GM10248	blood:	n/a	n/a
36	CTCF	chr5:99403451-99403868	K562	blood:	n/a	n/a
37	CTCF	chr5:99435838-99435954	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr5:99403589-99403821	K562	blood:	n/a	n/a
39	E2F4	chr5:99471263-99471501	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr5:99487967-99488409	MCF10A-Er-Src	breast:	n/a	chr5:99488169-99488178
41	E2F4	chr5:99485216-99485392	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr5:99484073-99484174	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr5:99446270-99446532	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr5:99480145-99480416	MCF10A-Er-Src	breast:	n/a	n/a
45	EBF1	chr5:99501114-99501348	GM12878	blood:	n/a	n/a
46	EBF1	chr5:99501049-99501309	GM12878	blood:	n/a	n/a
47	EBF1	chr5:99457271-99457415	GM12878	blood:	n/a	chr5:99457293-99457303 chr5:99457293-99457302 chr5:99457293-99457302 chr5:99457291-99457304
48	EP300	chr5:99501020-99501355	GM12878	blood:	n/a	chr5:99501043-99501057
49	EP300	chr5:99501078-99501373	GM12878	blood:	n/a	n/a
50	EP300	chr5:99460430-99460608	K562	blood:	n/a	chr5:99460442-99460452

No.	Distal block	Cell Line	Cell type
1	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:
2	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:
3	chr5:99444286..99447276-chr5:99447518..99449591,2	MCF-7	breast:
4	chr5:99444286..99447276-chr5:99447518..99449591,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-1119P	TF binding region

Extended variants
information (count: 793 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534227680	chr5:99416408-99416409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559176528	chr5:99416433-99416434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576779974	chr5:99416439-99416440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537882715	chr5:99416444-99416445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370192926	chr5:99416445-99416446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554620851	chr5:99416488-99416489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541517037	chr5:99416500-99416501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28722874	chr5:99416507-99416508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571859178	chr5:99416572-99416573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28641943	chr5:99416602-99416603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199932729	chr5:99416606-99416607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113046070	chr5:99416620-99416621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545798494	chr5:99416648-99416649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6892730	chr5:99416649-99416650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112181221	chr5:99416657-99416658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182599870	chr5:99416660-99416661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111796902	chr5:99416725-99416726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550979235	chr5:99416739-99416740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532553026	chr5:99416743-99416744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562866089	chr5:99416838-99416839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187246951	chr5:99416848-99416849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116838347	chr5:99416916-99416917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530286939	chr5:99416920-99416921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62388142	chr5:99416942-99416943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191285540	chr5:99416945-99416946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147812202	chr5:99416952-99416953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571153281	chr5:99416971-99416972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183828734	chr5:99416985-99416986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571398674	chr5:99416997-99416998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370844316	chr5:99416998-99416999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190199402	chr5:99417062-99417063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553656738	chr5:99417102-99417103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs62388143	chr5:99417109-99417110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201268760	chr5:99417113-99417114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551922408	chr5:99417114-99417115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567674646	chr5:99417178-99417179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529563461	chr5:99458241-99458242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4429827	chr5:99458270-99458271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10070689	chr5:99458306-99458307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs539433120	chr5:99458410-99458411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557932966	chr5:99458512-99458513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573128368	chr5:99458557-99458558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368986232	chr5:99458562-99458563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13166539	chr5:99458572-99458573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370673961	chr5:99458643-99458644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190888710	chr5:99458669-99458670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372665745	chr5:99458693-99458694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183430956	chr5:99458702-99458703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377119044	chr5:99458731-99458732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148934662	chr5:99458746-99458747	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99416400-99417200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:99458200-99458600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:99458400-99458800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:99458400-99458800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:99458400-99459000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:99458600-99459000	Enhancers	Fetal Brain Male	brain
7	chr5:99458800-99459000	Enhancers	Fetal Lung	lung
8	chr5:99459000-99459800	Weak transcription	Fetal Lung	lung
9	chr5:99459000-99460800	Weak transcription	Fetal Brain Male	brain
10	chr5:99459800-99461400	Enhancers	Fetal Lung	lung
11	chr5:99460800-99461400	Enhancers	Fetal Brain Male	brain
12	chr5:99461200-99461400	Enhancers	Fetal Kidney	kidney
13	chr5:99461400-99464000	Weak transcription	Fetal Kidney	kidney
14	chr5:99464000-99464200	Enhancers	Fetal Kidney	kidney
15	chr5:99464200-99465000	Weak transcription	Fetal Kidney	kidney
16	chr5:99465000-99466000	Enhancers	Fetal Kidney	kidney
17	chr5:99494000-99494800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:99503200-99503800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:99503200-99503800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:99503400-99503800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:99503400-99503800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:99503400-99503800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:99509800-99510200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:99510200-99510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:99510600-99512200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:99510800-99511800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:99510800-99512000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:99512200-99517400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:99517600-99517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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