Variant report

Variant	nsv517721
Chromosome Location	chr4:16350539-16365848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:430)
Chromatin interactive
region (count:9)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr4:16362360-16362692	K562	blood:	n/a	n/a
2	E2F4	chr4:16360641-16360852	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr4:16363661-16363799	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F6	chr4:16362597-16362767	K562	blood:	n/a	n/a
5	ELF1	chr4:16362212-16362798	MCF-7	breast:	n/a	n/a
6	ELF1	chr4:16362289-16362761	MCF-7	breast:	n/a	n/a
7	HA-E2F1	chr4:16362306-16363059	MCF-7	breast:	n/a	n/a
8	IRF1	chr4:16357311-16357460	K562	blood:	n/a	n/a
9	MAX	chr4:16362445-16362769	MCF-7	breast:	n/a	n/a
10	MAX	chr4:16354947-16355115	NB4	blood:	n/a	chr4:16354987-16354997
11	MAX	chr4:16362167-16362522	K562	blood:	n/a	n/a
12	MYC	chr4:16362427-16362723	MCF-7	breast:	n/a	n/a
13	MYC	chr4:16362429-16362626	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr4:16362408-16362824	MCF-7	breast:	n/a	n/a
15	MYC	chr4:16362417-16362669	MCF-7	breast:	n/a	n/a
16	PML	chr4:16362453-16362761	MCF-7	breast:	n/a	n/a
17	POLR2A	chr4:16362130-16363282	MCF-7	breast:	n/a	n/a
18	POLR2A	chr4:16362508-16362535	ProgFib	skin:	n/a	n/a
19	POLR2A	chr4:16362252-16362898	MCF-7	breast:	n/a	n/a
20	POLR2A	chr4:16365781-16365862	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr4:16362271-16362913	MCF-7	breast:	n/a	n/a
22	POLR2A	chr4:16362561-16362776	ProgFib	skin:	n/a	n/a
23	POLR2A	chr4:16359970-16360061	K562	blood:	n/a	n/a
24	POLR2A	chr4:16362107-16362125	MCF-7	breast:	n/a	n/a
25	POLR2A	chr4:16362267-16362328	K562	blood:	n/a	n/a
26	POLR2A	chr4:16353183-16353327	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr4:16362334-16362650	K562	blood:	n/a	n/a
28	POLR2A	chr4:16354902-16355014	ProgFib	skin:	n/a	n/a
29	SPI1	chr4:16351981-16352131	K562	blood:	n/a	chr4:16352067-16352076 chr4:16352065-16352078 chr4:16352066-16352079 chr4:16352068-16352075
30	SPI1	chr4:16351828-16352357	HL-60	blood:	n/a	chr4:16352067-16352076 chr4:16352065-16352078 chr4:16352066-16352079 chr4:16352068-16352075
31	SPI1	chr4:16350375-16350792	HL-60	blood:	n/a	n/a
32	SPI1	chr4:16351942-16352161	HL-60	blood:	n/a	chr4:16352067-16352076 chr4:16352065-16352078 chr4:16352066-16352079 chr4:16352068-16352075
33	STAT3	chr4:16358956-16359156	MCF10A-Er-Src	breast:	n/a	n/a
34	TAF1	chr4:16362443-16362735	MCF-7	breast:	n/a	n/a
35	YY1	chr4:16362352-16362611	K562	blood:	n/a	chr4:16362484-16362496
36	YY1	chr4:16362378-16362556	H1-hESC	embryonic stem cell:	n/a	chr4:16362484-16362496
37	YY1	chr4:16362421-16362646	K562	blood:	n/a	chr4:16362484-16362496

(count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:16363266-16363316	SK-N-SH_RA	brain:	n/a
2	chr4:16362422-16362472	HCF	heart:	n/a
3	chr4:16363266-16363316	AG09309	skin:	n/a
4	chr4:16363266-16363316	SK-N-SH_RA	brain:	n/a
5	chr4:16362422-16362472	HCF	heart:	n/a
6	chr4:16363266-16363316	AG09309	skin:	n/a
7	chr4:16362664-16362714	SK-N-MC	brain:	n/a
8	chr4:16362664-16362714	PANC-1	pancreas:	n/a
9	chr4:16362664-16362714	HMEC	breast:	n/a
10	chr4:16362422-16362472	SKMC	muscle:	n/a
11	chr4:16359846-16359896	Jurkat	blood:	n/a
12	chr4:16362666-16362716	HPAEpiC	pulmonary alveolar:	n/a
13	chr4:16362666-16362716	Hepatocyte	liver:	n/a
14	chr4:16362666-16362716	AG04449	skin:	fetal
15	chr4:16362584-16362634	U87	brain:	n/a
16	chr4:16362666-16362716	SK-N-SH	brain:	n/a
17	chr4:16362664-16362714	AG04450	lung:	fetal
18	chr4:16363266-16363316	NT2-D1	testis:	n/a
19	chr4:16363266-16363316	NB4	blood:	n/a
20	chr4:16363266-16363316	HepG2	liver:	n/a
21	chr4:16362664-16362714	Hela-S3	cervix:	n/a
22	chr4:16362664-16362714	AG09309	skin:	n/a
23	chr4:16362584-16362634	NB4	blood:	n/a
24	chr4:16362422-16362472	HAEpiC	amniotic membrane:	n/a
25	chr4:16362584-16362634	AG04449	skin:	fetal
26	chr4:16362664-16362714	T-47D	breast:	n/a
27	chr4:16362584-16362634	NH-A	brain:	n/a
28	chr4:16362340-16362390	RPTEC	kidney:	n/a
29	chr4:16362584-16362634	PFSK-1	brain:	n/a
30	chr4:16362666-16362716	HCT-116	colon:	n/a
31	chr4:16362666-16362716	GM12878	blood:	n/a
32	chr4:16362664-16362714	HUVEC	blood vessel:	n/a
33	chr4:16362666-16362716	K562	blood:	n/a
34	chr4:16362340-16362390	SK-N-MC	brain:	n/a
35	chr4:16362664-16362714	GM12878	blood:	n/a
36	chr4:16362422-16362472	ECC-1	luminal epithelium:	n/a
37	chr4:16362584-16362634	Jurkat	blood:	n/a
38	chr4:16363266-16363316	HAEpiC	amniotic membrane:	n/a
39	chr4:16362666-16362716	Hela-S3	cervix:	n/a
40	chr4:16362422-16362472	HIPEpiC	eye:	n/a
41	chr4:16362340-16362390	MCF-7	breast:	n/a
42	chr4:16359846-16359896	SK-N-SH	brain:	n/a
43	chr4:16362664-16362714	Hepatocyte	liver:	n/a
44	chr4:16362664-16362714	NHDF-neo	bronchial:	n/a
45	chr4:16362584-16362634	ProgFib	skin:	n/a
46	chr4:16362422-16362472	NHBE	bronchial:	n/a
47	chr4:16362340-16362390	T-47D	breast:	n/a
48	chr4:16362666-16362716	AG09309	skin:	n/a
49	chr4:16362666-16362716	U87	brain:	n/a
50	chr4:16362340-16362390	K562	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:16258640..16260295-chr4:16352186..16354704,2	K562	blood:
2	chr4:16361224..16363467-chr4:16364801..16367359,3	MCF-7	breast:
3	chr4:16355873..16357763-chr4:16357802..16360791,2	MCF-7	breast:
4	chr4:16360699..16362829-chr4:16383139..16385452,2	MCF-7	breast:
5	chr4:16355756..16359124-chr4:16361383..16363978,4	MCF-7	breast:
6	chr4:16364655..16366735-chr4:16377619..16379236,2	K562	blood:
7	chr4:16360973..16364086-chr4:16365820..16368451,4	MCF-7	breast:
8	chr4:16355873..16357763-chr4:16357802..16360791,2	MCF-7	breast:
9	chr19:56161626..56162436-chr4:16357679..16358532,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAPT1-3	chr4:16362507-16362611	NONHSAT095687
2	lnc-CD38-2	chr4:16357242-16357365	NONHSAT095684
3	lnc-CD38-2	chr4:16357243-16357365	XLOC_003469

No data

Variant related genes	Relation type
ZEB2P1	TF binding region
ZEB2P1	CpG island
ENSG00000249506	chromatin interactions

Extended variants
information (count: 378 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1860821	chr4:16350539-16350540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563524239	chr4:16350588-16350589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577163778	chr4:16350600-16350601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186304475	chr4:16350605-16350606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190360735	chr4:16350620-16350621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182290038	chr4:16350670-16350671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528113114	chr4:16350721-16350722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547906174	chr4:16350759-16350760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11723926	chr4:16350814-16350815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186949015	chr4:16350837-16350838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549915153	chr4:16350855-16350856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200400411	chr4:16350856-16350857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62298775	chr4:16350915-16350916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190874079	chr4:16350937-16350938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534333421	chr4:16351008-16351009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149131279	chr4:16351054-16351055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199912019	chr4:16351058-16351059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183965771	chr4:16351082-16351083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576066619	chr4:16351086-16351087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534999483	chr4:16351094-16351095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142288300	chr4:16351099-16351100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574875121	chr4:16351122-16351123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188523785	chr4:16351296-16351297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16893368	chr4:16351485-16351486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577129531	chr4:16351493-16351494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201893756	chr4:16351535-16351536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200237184	chr4:16351536-16351537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201511904	chr4:16351537-16351538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58100055	chr4:16351540-16351541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199654700	chr4:16351541-16351542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546092889	chr4:16351546-16351547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112705927	chr4:16351560-16351561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192869448	chr4:16351561-16351562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541800534	chr4:16351580-16351581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572036164	chr4:16351592-16351593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530587468	chr4:16351612-16351613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543917518	chr4:16351643-16351644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563510872	chr4:16351655-16351656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532543453	chr4:16351686-16351687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146751770	chr4:16351748-16351749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367784995	chr4:16351779-16351780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528827402	chr4:16351808-16351809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73239749	chr4:16351828-16351829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140448463	chr4:16351834-16351835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560895139	chr4:16351835-16351836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530021441	chr4:16351839-16351840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558997329	chr4:16351924-16351925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145449158	chr4:16351928-16351929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs137973761	chr4:16351973-16351974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577396939	chr4:16351978-16351979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16338600-16353200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:16350000-16352800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:16350200-16350600	Enhancers	Spleen	Spleen
4	chr4:16351400-16351600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:16351400-16354000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:16351600-16351800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:16351600-16351800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:16351600-16351800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:16351600-16352200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:16351600-16352200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:16351800-16352800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:16351800-16353000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:16352000-16353000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:16352200-16352600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:16352200-16353000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:16352200-16353200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:16352200-16353800	Enhancers	Brain Germinal Matrix	brain
18	chr4:16352600-16355000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:16352800-16353800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:16352800-16353800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:16352800-16353800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:16352800-16353800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:16352800-16353800	Enhancers	Fetal Brain Female	brain
24	chr4:16353000-16353600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:16353000-16353800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:16353000-16353800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:16353000-16353800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:16353000-16353800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:16353000-16353800	Enhancers	Brain Cingulate Gyrus	brain
30	chr4:16353200-16353400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:16353200-16353800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:16353200-16353800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:16353200-16353800	Enhancers	Brain Substantia Nigra	brain
34	chr4:16353400-16353800	Enhancers	Brain Hippocampus Middle	brain
35	chr4:16353800-16354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:16353800-16355000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:16354800-16355000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:16355000-16355200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:16357200-16358400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr4:16359200-16359600	Enhancers	Fetal Stomach	stomach
41	chr4:16362200-16362600	Active TSS	K562	blood
42	chr4:16362400-16363000	Active TSS	Placenta	Placenta
43	chr4:16362400-16363200	ZNF genes & repeats	Pancreas	Pancrea
44	chr4:16362600-16362800	Flanking Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links