Variant report

Variant	esv1808351
Chromosome Location	chr5:99385971-99509439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:472)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	chr5:99389007-99389272	GM12878	blood:	n/a	n/a
3	BATF	chr5:99389500-99389704	GM12878	blood:	n/a	n/a
4	BATF	chr5:99389499-99389705	GM12878	blood:	n/a	n/a
5	BATF	chr5:99388504-99388666	GM12878	blood:	n/a	n/a
6	BATF	chr5:99432046-99432361	GM12878	blood:	n/a	n/a
7	BATF	chr5:99501068-99501408	GM12878	blood:	n/a	chr5:99501194-99501205
8	BATF	chr5:99385890-99386051	GM12878	blood:	n/a	n/a
9	BATF	chr5:99388507-99388698	GM12878	blood:	n/a	n/a
10	BATF	chr5:99501052-99501415	GM12878	blood:	n/a	chr5:99501194-99501205
11	BATF	chr5:99388145-99388297	GM12878	blood:	n/a	n/a
12	BATF	chr5:99389889-99390099	GM12878	blood:	n/a	n/a
13	BATF	chr5:99432041-99432354	GM12878	blood:	n/a	n/a
14	BATF	chr5:99387907-99388092	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:99387897-99388305	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:99389955-99390140	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:99388493-99388759	GM12878	blood:	n/a	n/a
18	BCL11A	chr5:99388998-99389358	GM12878	blood:	n/a	n/a
19	BCL11A	chr5:99387915-99388066	GM12878	blood:	n/a	n/a
20	BCL11A	chr5:99385899-99386040	GM12878	blood:	n/a	n/a
21	BCL11A	chr5:99432032-99432400	GM12878	blood:	n/a	n/a
22	BCL11A	chr5:99389507-99389698	GM12878	blood:	n/a	n/a
23	BCL11A	chr5:99388153-99388292	GM12878	blood:	n/a	n/a
24	BCL11A	chr5:99389488-99389768	GM12878	blood:	n/a	n/a
25	BCL11A	chr5:99501084-99501317	GM12878	blood:	n/a	n/a
26	BCL11A	chr5:99385767-99386189	GM12878	blood:	n/a	n/a
27	BCL11A	chr5:99388377-99388810	GM12878	blood:	n/a	n/a
28	BCL11A	chr5:99501044-99501395	GM12878	blood:	n/a	n/a
29	BCL3	chr5:99501083-99501319	GM12878	blood:	n/a	n/a
30	BCLAF1	chr5:99501079-99501347	GM12878	blood:	n/a	n/a
31	BCLAF1	chr5:99501053-99501362	GM12878	blood:	n/a	n/a
32	BHLHE40	chr5:99390309-99390484	HepG2	liver:	n/a	n/a
33	BHLHE40	chr5:99387743-99388449	HepG2	liver:	n/a	n/a
34	BHLHE40	chr5:99389491-99389718	HepG2	liver:	n/a	n/a
35	BHLHE40	chr5:99388491-99388776	HepG2	liver:	n/a	n/a
36	BHLHE40	chr5:99388899-99389375	HepG2	liver:	n/a	n/a
37	BHLHE40	chr5:99389935-99390255	HepG2	liver:	n/a	n/a
38	BHLHE40	chr5:99387457-99387678	HepG2	liver:	n/a	n/a
39	BHLHE40	chr5:99385878-99386179	HepG2	liver:	n/a	n/a
40	CBX3	chr5:99497665-99498015	HCT-116	colon:	n/a	n/a
41	CCNT2	chr5:99475755-99475914	K562	blood:	n/a	n/a
42	CEBPB	chr5:99471203-99471463	HepG2	liver:	n/a	chr5:99471302-99471313
43	CEBPB	chr5:99466026-99466294	A549	lung:	n/a	chr5:99466168-99466179
44	CEBPB	chr5:99465947-99466290	MCF-7	breast:	n/a	chr5:99466168-99466179
45	CEBPB	chr5:99459046-99459273	HepG2	liver:	n/a	chr5:99459170-99459181
46	CEBPB	chr5:99386887-99387195	HepG2	liver:	n/a	n/a
47	CEBPB	chr5:99466058-99466322	K562	blood:	n/a	chr5:99466168-99466179
48	CEBPB	chr5:99466071-99466271	H1-hESC	embryonic stem cell:	n/a	chr5:99466168-99466179
49	CEBPB	chr5:99465993-99466301	IMR90	lung:	n/a	chr5:99466168-99466179
50	CEBPB	chr5:99494768-99494900	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:99388688-99388738	HL-60	blood:	n/a
2	chr5:99389821-99389871	AG09309	skin:	n/a
3	chr5:99388688-99388738	K562	blood:	n/a
4	chr5:99388688-99388738	NHBE	bronchial:	n/a
5	chr5:99388688-99388738	GM12878	blood:	n/a
6	chr5:99388688-99388738	H1-hESC	embryonic stem cell:	embryo
7	chr5:99389821-99389871	AG04450	lung:	fetal
8	chr5:99388688-99388738	GM12892	blood:	n/a
9	chr5:99389821-99389871	LNCaP	prostate:	n/a
10	chr5:99388688-99388738	NB4	blood:	n/a
11	chr5:99388688-99388738	CMK	blood:	n/a
12	chr5:99388688-99388738	SKMC	muscle:	n/a
13	chr5:99389821-99389871	HCT-116	colon:	n/a
14	chr5:99388688-99388738	SK-N-MC	brain:	n/a
15	chr5:99389821-99389871	Jurkat	blood:	n/a
16	chr5:99388688-99388738	HCF	heart:	n/a
17	chr5:99389821-99389871	HPAEpiC	pulmonary alveolar:	n/a
18	chr5:99388688-99388738	ECC-1	luminal epithelium:	n/a
19	chr5:99388688-99388738	PFSK-1	brain:	n/a
20	chr5:99388688-99388738	SK-N-SH_RA	brain:	n/a
21	chr5:99389821-99389871	AG10803	skin:	n/a
22	chr5:99388688-99388738	IMR90	lung:	fetal
23	chr5:99388688-99388738	AG04449	skin:	fetal
24	chr5:99389821-99389871	NB4	blood:	n/a
25	chr5:99389821-99389871	HEK293	kidney:	embryo
26	chr5:99389821-99389871	A549	lung:	n/a
27	chr5:99389821-99389871	MCF-7	breast:	n/a
28	chr5:99389821-99389871	HNPCEpiC	eye:	n/a
29	chr5:99389821-99389871	BJ	skin:	n/a
30	chr5:99389821-99389871	HCM	heart:	n/a
31	chr5:99389821-99389871	SK-N-MC	brain:	n/a
32	chr5:99388688-99388738	HCM	heart:	n/a
33	chr5:99388688-99388738	BE2_C	brain:	n/a
34	chr5:99388688-99388738	HEEpiC	esophagus:	n/a
35	chr5:99389821-99389871	Caco-2	colon:	n/a
36	chr5:99388688-99388738	GM12891	blood:	n/a
37	chr5:99388688-99388738	MCF10A-Er-Src	breast:	n/a
38	chr5:99389821-99389871	NHBE	bronchial:	n/a
39	chr5:99389821-99389871	GM12891	blood:	n/a
40	chr5:99389821-99389871	RPTEC	kidney:	n/a
41	chr5:99389821-99389871	PANC-1	pancreas:	n/a
42	chr5:99389821-99389871	GM06990	blood:	n/a
43	chr5:99389821-99389871	U87	brain:	n/a
44	chr5:99388688-99388738	AG04450	lung:	fetal
45	chr5:99388688-99388738	HIPEpiC	eye:	n/a
46	chr5:99389821-99389871	HEEpiC	esophagus:	n/a
47	chr5:99389821-99389871	SK-N-SH_RA	brain:	n/a
48	chr5:99389821-99389871	AoSMC	blood vessel:	n/a
49	chr5:99389821-99389871	ProgFib	skin:	n/a
50	chr5:99388688-99388738	GM06990	blood:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:99444286..99447276-chr5:99447518..99449591,2	MCF-7	breast:
2	chr5:99444286..99447276-chr5:99447518..99449591,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA4-10	chr5:99386063-99386354	NONHSAT102989

No data

Variant related genes	Relation type
ENSG00000271480	TF binding region
ENSG00000270225	TF binding region
ENSG00000270350	TF binding region
ENSG00000270388	TF binding region
ENSG00000264839	TF binding region
RNU6-1119P	TF binding region
MTATP6P2	TF binding region
MTND5P10	TF binding region
ENSG00000270232	TF binding region
ENSG00000270906	TF binding region
ENSG00000271207	TF binding region
ENSG00000271480	CpG island
ENSG00000270225	CpG island
ENSG00000270350	CpG island
ENSG00000270388	CpG island
ENSG00000264839	CpG island
RNU6-1119P	CpG island
MTATP6P2	CpG island
MTND5P10	CpG island
ENSG00000270232	CpG island
ENSG00000270906	CpG island
ENSG00000271207	CpG island

Extended variants
information (count: 659 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:659 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576607989	chr5:99385972-99385973	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
2	rs79495532	chr5:99386004-99386005	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
3	rs75295878	chr5:99386051-99386052	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
4	rs77764894	chr5:99386052-99386053	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
5	rs537211402	chr5:99386090-99386091	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs150980936	chr5:99386112-99386113	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs556046152	chr5:99386113-99386114	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs78820423	chr5:99386120-99386121	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs573947694	chr5:99386123-99386124	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs79980745	chr5:99386138-99386139	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs78642400	chr5:99386141-99386142	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs77224754	chr5:99386147-99386148	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs80078759	chr5:99386156-99386157	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs540634782	chr5:99386168-99386169	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs533062517	chr5:99386180-99386181	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs77909657	chr5:99386210-99386211	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs77191347	chr5:99386228-99386229	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs113643167	chr5:99386261-99386262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs558963143	chr5:99386289-99386290	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs577217134	chr5:99386290-99386291	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs76264673	chr5:99386318-99386319	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs77998216	chr5:99386342-99386343	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs79949401	chr5:99386348-99386349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs371916357	chr5:99386900-99386901	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
25	rs537653248	chr5:99386901-99386902	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
26	rs73774559	chr5:99386906-99386907	Inactive region	TF binding region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs200619414	chr5:99386915-99386916	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
28	rs192512294	chr5:99386920-99386921	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
29	rs78797578	chr5:99386921-99386922	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
30	rs74559244	chr5:99386933-99386934	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
31	rs74852314	chr5:99386949-99386950	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
32	rs116483176	chr5:99386959-99386960	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
33	rs79042330	chr5:99386965-99386966	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
34	rs75534597	chr5:99386969-99386970	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
35	rs553229604	chr5:99386988-99386989	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
36	rs115209119	chr5:99386991-99386992	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
37	rs111507390	chr5:99386993-99386994	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
38	rs73774561	chr5:99386999-99387000	Inactive region	TF binding region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201114844	chr5:99387002-99387003	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
40	rs113705734	chr5:99387011-99387012	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
41	rs79919531	chr5:99387041-99387042	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
42	rs148286206	chr5:99387049-99387050	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
43	rs10515294	chr5:99387066-99387067	Inactive region	TF binding region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542819917	chr5:99387069-99387070	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
45	rs184863891	chr5:99387077-99387078	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
46	rs368441245	chr5:99387078-99387079	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
47	rs73155684	chr5:99387090-99387091	Inactive region	TF binding region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188896674	chr5:99387094-99387095	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
49	rs543334148	chr5:99387102-99387103	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
50	rs142882699	chr5:99387130-99387131	Inactive region	TF binding region	4 gene(s)	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	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:22 , 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

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