Variant report

Variant	nsv882439
Chromosome Location	chr5:99306483-99387066
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:395)
CpG islands
(count:244)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:99379244-99379565	GM12878	blood:	n/a	n/a
2	ATF2	chr5:99379165-99379540	GM12878	blood:	n/a	n/a
3	BACH1	chr5:99384887-99385260	K562	blood:	n/a	n/a
4	BATF	chr5:99379275-99379445	GM12878	blood:	n/a	n/a
5	BATF	chr5:99384985-99385295	GM12878	blood:	n/a	n/a
6	BATF	chr5:99385000-99385307	GM12878	blood:	n/a	n/a
7	BATF	chr5:99384412-99384822	GM12878	blood:	n/a	n/a
8	BATF	chr5:99382105-99382281	GM12878	blood:	n/a	n/a
9	BATF	chr5:99384368-99384728	GM12878	blood:	n/a	n/a
10	BATF	chr5:99379238-99379445	GM12878	blood:	n/a	n/a
11	BATF	chr5:99382104-99382381	GM12878	blood:	n/a	n/a
12	BATF	chr5:99383118-99383547	GM12878	blood:	n/a	n/a
13	BATF	chr5:99383113-99383549	GM12878	blood:	n/a	n/a
14	BATF	chr5:99385890-99386051	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:99382065-99382284	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:99385767-99386189	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:99385899-99386040	GM12878	blood:	n/a	n/a
18	BCL11A	chr5:99383178-99383545	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL11A	chr5:99383124-99383473	GM12878	blood:	n/a	n/a
20	BCL11A	chr5:99384943-99385335	GM12878	blood:	n/a	n/a
21	BCL11A	chr5:99381820-99382422	GM12878	blood:	n/a	n/a
22	BCL11A	chr5:99384271-99384770	GM12878	blood:	n/a	n/a
23	BCL11A	chr5:99383106-99383811	GM12878	blood:	n/a	n/a
24	BCL11A	chr5:99384966-99385376	GM12878	blood:	n/a	n/a
25	BCL11A	chr5:99384419-99384722	GM12878	blood:	n/a	n/a
26	BHLHE40	chr5:99385878-99386179	HepG2	liver:	n/a	n/a
27	BHLHE40	chr5:99382742-99383814	HepG2	liver:	n/a	n/a
28	BHLHE40	chr5:99384277-99384855	HepG2	liver:	n/a	n/a
29	BHLHE40	chr5:99385632-99385808	HepG2	liver:	n/a	n/a
30	BHLHE40	chr5:99384917-99385380	HepG2	liver:	n/a	n/a
31	BHLHE40	chr5:99381766-99382378	HepG2	liver:	n/a	n/a
32	CEBPB	chr5:99377040-99377166	A549	lung:	n/a	chr5:99377086-99377099 chr5:99377122-99377133 chr5:99377086-99377097 chr5:99377086-99377099
33	CEBPB	chr5:99373634-99373910	A549	lung:	n/a	n/a
34	CEBPB	chr5:99382866-99382867	K562	blood:	n/a	n/a
35	CEBPB	chr5:99382670-99382890	HepG2	liver:	n/a	chr5:99382783-99382796 chr5:99382865-99382882 chr5:99382784-99382795
36	CEBPB	chr5:99382621-99382941	IMR90	lung:	n/a	chr5:99382783-99382796 chr5:99382865-99382882 chr5:99382784-99382795
37	CEBPB	chr5:99376768-99377206	HepG2	liver:	n/a	chr5:99377086-99377099 chr5:99377122-99377133 chr5:99377086-99377097 chr5:99377086-99377099
38	CEBPB	chr5:99386887-99387195	HepG2	liver:	n/a	n/a
39	CEBPD	chr5:99381995-99382311	K562	blood:	n/a	n/a
40	CEBPD	chr5:99384976-99385398	K562	blood:	n/a	n/a
41	CEBPD	chr5:99384412-99384756	K562	blood:	n/a	n/a
42	CHD2	chr5:99384887-99385260	K562	blood:	n/a	n/a
43	CTCF	chr5:99345316-99345401	GM13977	blood:	n/a	n/a
44	CTCF	chr5:99384886-99385261	K562	blood:	n/a	n/a
45	CTCF	chr5:99346183-99346325	GM12878	blood:	n/a	n/a
46	CTCF	chr5:99332067-99332135	Lung_OC	lung:	n/a	n/a
47	CTCF	chr5:99345220-99345370	HEK293	kidney:	n/a	n/a
48	CTCF	chr5:99323932-99323950	IMR90	lung:	n/a	n/a
49	CUX1	chr5:99384886-99385260	K562	blood:	n/a	n/a
50	CUX1	chr5:99355142-99355253	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:99382140-99382190	H1-hESC	embryonic stem cell:	embryo
2	chr5:99382144-99382194	HL-60	blood:	n/a
3	chr5:99382144-99382194	IMR90	lung:	fetal
4	chr5:99382140-99382190	HEEpiC	esophagus:	n/a
5	chr5:99381840-99381890	HCF	heart:	n/a
6	chr5:99382144-99382194	HCM	heart:	n/a
7	chr5:99381840-99381890	NHDF-neo	bronchial:	n/a
8	chr5:99381964-99382014	HRE	kidney:	n/a
9	chr5:99381840-99381890	HepG2	liver:	n/a
10	chr5:99382144-99382194	PANC-1	pancreas:	n/a
11	chr5:99381964-99382014	Caco-2	colon:	n/a
12	chr5:99381840-99381890	GM06990	blood:	n/a
13	chr5:99381840-99381890	AoSMC	blood vessel:	n/a
14	chr5:99382144-99382194	ECC-1	luminal epithelium:	n/a
15	chr5:99382144-99382194	SK-N-MC	brain:	n/a
16	chr5:99382140-99382190	T-47D	breast:	n/a
17	chr5:99381840-99381890	SK-N-SH	brain:	n/a
18	chr5:99382140-99382190	HCPEpiC	choroid plexus:	n/a
19	chr5:99382140-99382190	Hela-S3	cervix:	n/a
20	chr5:99382144-99382194	K562	blood:	n/a
21	chr5:99381964-99382014	HRPEpiC	eye:	n/a
22	chr5:99382140-99382190	AG04450	lung:	fetal
23	chr5:99381964-99382014	MCF-7	breast:	n/a
24	chr5:99381840-99381890	MCF-7	breast:	n/a
25	chr5:99381840-99381890	BJ	skin:	n/a
26	chr5:99381840-99381890	ProgFib	skin:	n/a
27	chr5:99381840-99381890	HEEpiC	esophagus:	n/a
28	chr5:99381964-99382014	GM12892	blood:	n/a
29	chr5:99381840-99381890	SK-N-SH_RA	brain:	n/a
30	chr5:99382140-99382190	IMR90	lung:	fetal
31	chr5:99382144-99382194	NHBE	bronchial:	n/a
32	chr5:99381964-99382014	BJ	skin:	n/a
33	chr5:99381964-99382014	BE2_C	brain:	n/a
34	chr5:99381840-99381890	ovcar-3	ovarian:	n/a
35	chr5:99381964-99382014	GM06990	blood:	n/a
36	chr5:99381964-99382014	NH-A	brain:	n/a
37	chr5:99382144-99382194	SAEC	small airway:	n/a
38	chr5:99381840-99381890	PrEC	prostate:	n/a
39	chr5:99381964-99382014	HepG2	liver:	n/a
40	chr5:99381840-99381890	HMEC	breast:	n/a
41	chr5:99382140-99382190	NHDF-neo	bronchial:	n/a
42	chr5:99381840-99381890	U87	brain:	n/a
43	chr5:99381964-99382014	GM12878	blood:	n/a
44	chr5:99381840-99381890	NH-A	brain:	n/a
45	chr5:99381840-99381890	Jurkat	blood:	n/a
46	chr5:99381964-99382014	HEEpiC	esophagus:	n/a
47	chr5:99381964-99382014	K562	blood:	n/a
48	chr5:99381964-99382014	HL-60	blood:	n/a
49	chr5:99381964-99382014	T-47D	breast:	n/a
50	chr5:99381840-99381890	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr5:99354562..99356518-chr5:99358881..99360827,2	K562	blood:
2	chr5:99354562..99356518-chr5:99358881..99360827,2	K562	blood:
3	chr5:99336948..99339437-chr5:99341088..99343626,2	K562	blood:
4	chr5:99336948..99339437-chr5:99341088..99343626,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM174A-4	chr5:99382154-99382674	NONHSAT102986
2	lnc-ST8SIA4-10	chr5:99386063-99386354	NONHSAT102989

No data

Variant related genes	Relation type
ENSG00000270230	TF binding region
ENSG00000271480	TF binding region
EEF1A1P20	TF binding region
ENSG00000270350	TF binding region
MTND5P10	TF binding region
ENSG00000199378	TF binding region
ENSG00000264839	TF binding region
ENSG00000270232	TF binding region
ENSG00000270906	TF binding region
ENSG00000270230	CpG island
ENSG00000271480	CpG island
EEF1A1P20	CpG island
ENSG00000270350	CpG island
MTND5P10	CpG island
ENSG00000199378	CpG island
ENSG00000264839	CpG island
ENSG00000270232	CpG island
ENSG00000270906	CpG island

Extended variants
information (count: 1012 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1012 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10054880	chr5:99306483-99306484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553346543	chr5:99306497-99306498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531750361	chr5:99306515-99306516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550107089	chr5:99306545-99306546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370943195	chr5:99306564-99306565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2927418	chr5:99306574-99306575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535988609	chr5:99306581-99306582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181952422	chr5:99306614-99306615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185471789	chr5:99306648-99306649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189602202	chr5:99306649-99306650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180834688	chr5:99306675-99306676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140572597	chr5:99306699-99306700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11241330	chr5:99306709-99306710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535853761	chr5:99306746-99306747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186758595	chr5:99306786-99306787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57150819	chr5:99306835-99306836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555387690	chr5:99306872-99306873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573548009	chr5:99306925-99306926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541158059	chr5:99306937-99306938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559165680	chr5:99306953-99306954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551622439	chr5:99306989-99306990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113062445	chr5:99307038-99307039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10478235	chr5:99307052-99307053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545191999	chr5:99307076-99307077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145893634	chr5:99307102-99307103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530777598	chr5:99307112-99307113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549000638	chr5:99307127-99307128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373547169	chr5:99307193-99307194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568482653	chr5:99307242-99307243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529256768	chr5:99307246-99307247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202194472	chr5:99307250-99307251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190265760	chr5:99307261-99307262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181129035	chr5:99307278-99307279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201027591	chr5:99307322-99307323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186173612	chr5:99307374-99307375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375660972	chr5:99307394-99307395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190536950	chr5:99307404-99307405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184173904	chr5:99307467-99307468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577065102	chr5:99307499-99307500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374923962	chr5:99307555-99307556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537790429	chr5:99307612-99307613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67914330	chr5:99307631-99307632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138481924	chr5:99307734-99307735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73153610	chr5:99307897-99307898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188734559	chr5:99307959-99307960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536731292	chr5:99308076-99308077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577769841	chr5:99308087-99308088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556417575	chr5:99308140-99308141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199636466	chr5:99308156-99308157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1982626	chr5:99308208-99308209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99305800-99309200	Weak transcription	Fetal Lung	lung
2	chr5:99309200-99309400	Enhancers	Fetal Lung	lung
3	chr5:99311000-99311400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:99311400-99312600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:99312600-99313000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:99340200-99341200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:99340200-99341200	Enhancers	NHEK	skin
8	chr5:99345200-99345400	ZNF genes & repeats	Gastric	stomach
9	chr5:99351000-99353200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:99351200-99351400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:99351400-99353200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:99351600-99352600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:99352600-99353200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:99352600-99355000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:99353200-99353600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:99353200-99353600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:99353200-99354000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:99353600-99354000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:99353600-99355400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:99354000-99355200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:99359000-99360200	Enhancers	Fetal Lung	lung
22	chr5:99360200-99363600	Weak transcription	Fetal Lung	lung
23	chr5:99360800-99361000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:99361200-99361600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:99361200-99361600	Bivalent/Poised TSS	GM12878-XiMat	blood
26	chr5:99361200-99361600	Active TSS	HSMM	muscle
27	chr5:99361200-99361600	Active TSS	HUVEC	blood vessel
28	chr5:99361400-99361600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
29	chr5:99363600-99364000	Enhancers	Fetal Lung	lung
30	chr5:99374800-99375800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:99375000-99376200	Enhancers	Brain Germinal Matrix	brain
32	chr5:99375400-99375800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:99375400-99375800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:99378400-99379000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:99378400-99379200	Enhancers	HUES48 Cell Line	embryonic stem cell

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