Variant report

Variant	nsv1031008
Chromosome Location	chr5:99317040-99448356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:713)
CpG islands
(count:368)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:99379165-99379540	GM12878	blood:	n/a	n/a
2	ATF2	chr5:99379244-99379565	GM12878	blood:	n/a	n/a
3	BACH1	chr5:99384887-99385260	K562	blood:	n/a	n/a
4	BATF	chr5:99432041-99432354	GM12878	blood:	n/a	n/a
5	BATF	chr5:99382105-99382281	GM12878	blood:	n/a	n/a
6	BATF	chr5:99384368-99384728	GM12878	blood:	n/a	n/a
7	BATF	chr5:99385000-99385307	GM12878	blood:	n/a	n/a
8	BATF	chr5:99383118-99383547	GM12878	blood:	n/a	n/a
9	BATF	chr5:99389499-99389705	GM12878	blood:	n/a	n/a
10	BATF	chr5:99388145-99388297	GM12878	blood:	n/a	n/a
11	BATF	chr5:99389889-99390099	GM12878	blood:	n/a	n/a
12	BATF	chr5:99388507-99388698	GM12878	blood:	n/a	n/a
13	BATF	chr5:99383113-99383549	GM12878	blood:	n/a	n/a
14	BATF	chr5:99384985-99385295	GM12878	blood:	n/a	n/a
15	BATF	chr5:99432046-99432361	GM12878	blood:	n/a	n/a
16	BATF	chr5:99384412-99384822	GM12878	blood:	n/a	n/a
17	BATF	chr5:99388504-99388666	GM12878	blood:	n/a	n/a
18	BATF	chr5:99385890-99386051	GM12878	blood:	n/a	n/a
19	BATF	chr5:99387907-99388092	GM12878	blood:	n/a	n/a
20	BATF	chr5:99389007-99389272	GM12878	blood:	n/a	n/a
21	BATF	chr5:99379275-99379445	GM12878	blood:	n/a	n/a
22	BATF	chr5:99382104-99382381	GM12878	blood:	n/a	n/a
23	BATF	chr5:99389500-99389704	GM12878	blood:	n/a	n/a
24	BATF	chr5:99379238-99379445	GM12878	blood:	n/a	n/a
25	BCL11A	chr5:99383106-99383811	GM12878	blood:	n/a	n/a
26	BCL11A	chr5:99384419-99384722	GM12878	blood:	n/a	n/a
27	BCL11A	chr5:99385899-99386040	GM12878	blood:	n/a	n/a
28	BCL11A	chr5:99384271-99384770	GM12878	blood:	n/a	n/a
29	BCL11A	chr5:99388998-99389358	GM12878	blood:	n/a	n/a
30	BCL11A	chr5:99384943-99385335	GM12878	blood:	n/a	n/a
31	BCL11A	chr5:99383124-99383473	GM12878	blood:	n/a	n/a
32	BCL11A	chr5:99389507-99389698	GM12878	blood:	n/a	n/a
33	BCL11A	chr5:99382065-99382284	GM12878	blood:	n/a	n/a
34	BCL11A	chr5:99388493-99388759	GM12878	blood:	n/a	n/a
35	BCL11A	chr5:99385767-99386189	GM12878	blood:	n/a	n/a
36	BCL11A	chr5:99387897-99388305	GM12878	blood:	n/a	n/a
37	BCL11A	chr5:99388377-99388810	GM12878	blood:	n/a	n/a
38	BCL11A	chr5:99383178-99383545	H1-hESC	embryonic stem cell:	n/a	n/a
39	BCL11A	chr5:99384966-99385376	GM12878	blood:	n/a	n/a
40	BCL11A	chr5:99381820-99382422	GM12878	blood:	n/a	n/a
41	BCL11A	chr5:99389955-99390140	GM12878	blood:	n/a	n/a
42	BCL11A	chr5:99387915-99388066	GM12878	blood:	n/a	n/a
43	BCL11A	chr5:99388153-99388292	GM12878	blood:	n/a	n/a
44	BCL11A	chr5:99432032-99432400	GM12878	blood:	n/a	n/a
45	BCL11A	chr5:99389488-99389768	GM12878	blood:	n/a	n/a
46	BHLHE40	chr5:99387457-99387678	HepG2	liver:	n/a	n/a
47	BHLHE40	chr5:99388899-99389375	HepG2	liver:	n/a	n/a
48	BHLHE40	chr5:99384917-99385380	HepG2	liver:	n/a	n/a
49	BHLHE40	chr5:99385878-99386179	HepG2	liver:	n/a	n/a
50	BHLHE40	chr5:99387743-99388449	HepG2	liver:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:99389821-99389871	GM12891	blood:	n/a
2	chr5:99388688-99388738	HMEC	breast:	n/a
3	chr5:99389821-99389871	GM12891	blood:	n/a
4	chr5:99388688-99388738	HMEC	breast:	n/a
5	chr5:99381840-99381890	Jurkat	blood:	n/a
6	chr5:99381840-99381890	HCPEpiC	choroid plexus:	n/a
7	chr5:99381964-99382014	H1-hESC	embryonic stem cell:	embryo
8	chr5:99382144-99382194	MCF-7	breast:	n/a
9	chr5:99382144-99382194	SK-N-SH_RA	brain:	n/a
10	chr5:99382144-99382194	HCT-116	colon:	n/a
11	chr5:99382140-99382190	GM12891	blood:	n/a
12	chr5:99389821-99389871	T-47D	breast:	n/a
13	chr5:99381964-99382014	ProgFib	skin:	n/a
14	chr5:99381840-99381890	BE2_C	brain:	n/a
15	chr5:99388688-99388738	MCF-7	breast:	n/a
16	chr5:99381840-99381890	HL-60	blood:	n/a
17	chr5:99381964-99382014	T-47D	breast:	n/a
18	chr5:99382140-99382190	BE2_C	brain:	n/a
19	chr5:99382144-99382194	AG09319	gingival:	n/a
20	chr5:99389821-99389871	K562	blood:	n/a
21	chr5:99381964-99382014	LNCaP	prostate:	n/a
22	chr5:99389821-99389871	U87	brain:	n/a
23	chr5:99381840-99381890	H1-hESC	embryonic stem cell:	embryo
24	chr5:99388688-99388738	PFSK-1	brain:	n/a
25	chr5:99382140-99382190	IMR90	lung:	fetal
26	chr5:99381964-99382014	SK-N-MC	brain:	n/a
27	chr5:99381964-99382014	SK-N-SH	brain:	n/a
28	chr5:99381964-99382014	HIPEpiC	eye:	n/a
29	chr5:99388688-99388738	HIPEpiC	eye:	n/a
30	chr5:99382144-99382194	HCM	heart:	n/a
31	chr5:99388688-99388738	A549	lung:	n/a
32	chr5:99388688-99388738	Hela-S3	cervix:	n/a
33	chr5:99381964-99382014	NHBE	bronchial:	n/a
34	chr5:99388688-99388738	HRCEpiC	kidney:	n/a
35	chr5:99388688-99388738	HCF	heart:	n/a
36	chr5:99381964-99382014	Jurkat	blood:	n/a
37	chr5:99388688-99388738	Jurkat	blood:	n/a
38	chr5:99382140-99382190	CMK	blood:	n/a
39	chr5:99382144-99382194	Jurkat	blood:	n/a
40	chr5:99388688-99388738	AG09309	skin:	n/a
41	chr5:99388688-99388738	HEEpiC	esophagus:	n/a
42	chr5:99381964-99382014	AG09309	skin:	n/a
43	chr5:99381964-99382014	HNPCEpiC	eye:	n/a
44	chr5:99382144-99382194	HL-60	blood:	n/a
45	chr5:99381840-99381890	ECC-1	luminal epithelium:	n/a
46	chr5:99382144-99382194	SAEC	small airway:	n/a
47	chr5:99382144-99382194	NT2-D1	testis:	n/a
48	chr5:99381964-99382014	SAEC	small airway:	n/a
49	chr5:99382144-99382194	SK-N-MC	brain:	n/a
50	chr5:99381840-99381890	AG04449	skin:	fetal

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:99336948..99339437-chr5:99341088..99343626,2	K562	blood:
2	chr5:99354562..99356518-chr5:99358881..99360827,2	K562	blood:
3	chr5:99336948..99339437-chr5:99341088..99343626,2	K562	blood:
4	chr5:99354562..99356518-chr5:99358881..99360827,2	K562	blood:
5	chr5:99444286..99447276-chr5:99447518..99449591,2	MCF-7	breast:
6	chr5:99444286..99447276-chr5:99447518..99449591,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000270230	TF binding region
ENSG00000271480	TF binding region
ENSG00000270225	TF binding region
EEF1A1P20	TF binding region
ENSG00000270350	TF binding region
ENSG00000270388	TF binding region
ENSG00000264839	TF binding region
MTATP6P2	TF binding region
MTND5P10	TF binding region
ENSG00000199378	TF binding region
ENSG00000270232	TF binding region
ENSG00000270906	TF binding region
ENSG00000271207	TF binding region
ENSG00000270230	CpG island
ENSG00000271480	CpG island
ENSG00000270225	CpG island
EEF1A1P20	CpG island
ENSG00000270350	CpG island
ENSG00000270388	CpG island
ENSG00000264839	CpG island
MTATP6P2	CpG island
MTND5P10	CpG island
ENSG00000199378	CpG island
ENSG00000270232	CpG island
ENSG00000270906	CpG island
ENSG00000271207	CpG island

Extended variants
information (count: 1098 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76808599	chr5:99331384-99331385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs74356573	chr5:99331386-99331387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558166825	chr5:99331395-99331396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574488236	chr5:99332094-99332095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs541892376	chr5:99332112-99332113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553711791	chr5:99332122-99332123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370180054	chr5:99332124-99332125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs559367173	chr5:99340279-99340280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181968269	chr5:99340300-99340301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149954372	chr5:99340316-99340317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144189719	chr5:99340361-99340362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563504067	chr5:99340398-99340399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574418761	chr5:99340417-99340418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114472260	chr5:99340451-99340452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549153749	chr5:99340462-99340463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567271270	chr5:99340475-99340476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550714052	chr5:99340528-99340529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184644956	chr5:99340565-99340566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547422152	chr5:99340604-99340605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189618120	chr5:99340624-99340625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539944018	chr5:99340697-99340698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180846557	chr5:99340720-99340721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185901335	chr5:99340815-99340816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372429805	chr5:99340817-99340818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537285784	chr5:99340843-99340844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189612576	chr5:99340849-99340850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371902336	chr5:99340906-99340907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574411969	chr5:99340927-99340928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181146626	chr5:99340937-99340938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186185595	chr5:99340956-99340957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577522177	chr5:99340967-99340968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140246227	chr5:99341020-99341021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563282700	chr5:99341026-99341027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530628537	chr5:99341030-99341031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76903202	chr5:99341035-99341036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73153664	chr5:99341076-99341077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs77032226	chr5:99341118-99341119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567624196	chr5:99341159-99341160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374659117	chr5:99345211-99345212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539336007	chr5:99345269-99345270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs181600234	chr5:99345275-99345276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs577133233	chr5:99345294-99345295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs75876935	chr5:99345322-99345323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs556195390	chr5:99345381-99345382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574580613	chr5:99345382-99345383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs191784014	chr5:99351046-99351047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76446326	chr5:99351094-99351095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116196555	chr5:99351101-99351102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554970610	chr5:99351131-99351132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151266459	chr5:99351135-99351136	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99340200-99341200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:99340200-99341200	Enhancers	NHEK	skin
3	chr5:99345200-99345400	ZNF genes & repeats	Gastric	stomach
4	chr5:99351000-99353200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:99351200-99351400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:99351400-99353200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:99351600-99352600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:99352600-99353200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:99352600-99355000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:99353200-99353600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:99353200-99353600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:99353200-99354000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:99353600-99354000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:99353600-99355400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:99354000-99355200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:99359000-99360200	Enhancers	Fetal Lung	lung
17	chr5:99360200-99363600	Weak transcription	Fetal Lung	lung
18	chr5:99360800-99361000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:99361200-99361600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:99361200-99361600	Bivalent/Poised TSS	GM12878-XiMat	blood
21	chr5:99361200-99361600	Active TSS	HSMM	muscle
22	chr5:99361200-99361600	Active TSS	HUVEC	blood vessel
23	chr5:99361400-99361600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
24	chr5:99363600-99364000	Enhancers	Fetal Lung	lung
25	chr5:99374800-99375800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:99375000-99376200	Enhancers	Brain Germinal Matrix	brain
27	chr5:99375400-99375800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:99375400-99375800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:99378400-99379000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:99378400-99379200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:99416400-99417200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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