Variant report

Variant	nsv878278
Chromosome Location	chr4:828148-862156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:269)
CpG islands
(count:3177)
Chromatin interactive
region (count:40)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:833628-834116	GM12878	blood:	n/a	n/a
2	BACH1	chr4:839116-839212	K562	blood:	n/a	n/a
3	BCL11A	chr4:849972-850190	GM12878	blood:	n/a	n/a
4	BCL3	chr4:847182-847471	GM12878	blood:	n/a	n/a
5	BCL3	chr4:847123-847521	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:843107-843184	K562	blood:	n/a	n/a
7	CBX3	chr4:831506-831745	K562	blood:	n/a	n/a
8	CBX3	chr4:838116-838393	K562	blood:	n/a	n/a
9	CBX3	chr4:831594-831878	K562	blood:	n/a	n/a
10	CEBPB	chr4:849715-849972	K562	blood:	n/a	chr4:849823-849834
11	CEBPB	chr4:849671-849978	IMR90	lung:	n/a	chr4:849823-849834
12	CEBPB	chr4:849683-850000	A549	lung:	n/a	chr4:849823-849834
13	CEBPB	chr4:849746-849956	Hela-S3	cervix:	n/a	chr4:849823-849834
14	CEBPB	chr4:849655-849965	HepG2	liver:	n/a	chr4:849823-849834
15	CEBPB	chr4:831676-831904	K562	blood:	n/a	n/a
16	CTCF	chr4:848060-848210	GM12864	blood:	n/a	n/a
17	CTCF	chr4:839020-839170	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr4:860640-860790	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr4:850283-850323	GM19239	blood:	n/a	n/a
20	CTCF	chr4:857856-857864	GM10266	blood:	n/a	n/a
21	CTCF	chr4:860660-860810	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr4:839540-839690	HFF	foreskin:	n/a	n/a
23	CTCF	chr4:860720-860870	NHEK	skin:	n/a	n/a
24	CTCF	chr4:860703-860772	NHEK	skin:	n/a	n/a
25	CTCF	chr4:849958-850081	GM19239	blood:	n/a	n/a
26	CTCF	chr4:839920-840070	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr4:849812-849912	Lung_OC	lung:	n/a	n/a
28	CTCF	chr4:849947-849948	GM19239	blood:	n/a	n/a
29	CTCF	chr4:829186-829273	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr4:855321-855402	GM10248	blood:	n/a	n/a
31	CTCF	chr4:829320-829470	HepG2	liver:	n/a	n/a
32	EGR1	chr4:829777-830147	H1-hESC	embryonic stem cell:	n/a	n/a
33	EGR1	chr4:829672-830148	H1-hESC	embryonic stem cell:	n/a	n/a
34	EGR1	chr4:843451-843701	K562	blood:	n/a	n/a
35	ELK1	chr4:829066-829239	Hela-S3	cervix:	n/a	n/a
36	EP300	chr4:830875-830883	HepG2	liver:	n/a	n/a
37	EP300	chr4:850216-850480	GM12878	blood:	n/a	n/a
38	FOS	chr4:860505-860854	MCF10A-Er-Src	breast:	n/a	chr4:860682-860690 chr4:860682-860690 chr4:860680-860692 chr4:860681-860691 chr4:860682-860689
39	FOS	chr4:860551-860840	MCF10A-Er-Src	breast:	n/a	chr4:860682-860690 chr4:860682-860690 chr4:860680-860692 chr4:860681-860691 chr4:860682-860689
40	FOS	chr4:860532-860813	MCF10A-Er-Src	breast:	n/a	chr4:860682-860690 chr4:860682-860690 chr4:860680-860692 chr4:860681-860691 chr4:860682-860689
41	FOS	chr4:860527-860840	MCF10A-Er-Src	breast:	n/a	chr4:860682-860690 chr4:860682-860690 chr4:860680-860692 chr4:860681-860691 chr4:860682-860689
42	FOSL1	chr4:860436-860807	K562	blood:	n/a	chr4:860682-860690 chr4:860682-860690 chr4:860680-860692 chr4:860681-860691 chr4:860682-860689
43	FOSL2	chr4:840145-840482	HepG2	liver:	n/a	n/a
44	FOSL2	chr4:841855-842257	HepG2	liver:	n/a	n/a
45	GABPA	chr4:849843-850557	GM12878	blood:	n/a	n/a
46	GATA2	chr4:829110-829550	SH-SY5Y	brain:	n/a	chr4:829310-829326 chr4:829313-829322
47	HMGN3	chr4:854439-854565	K562	blood:	n/a	n/a
48	HMGN3	chr4:829395-829726	K562	blood:	n/a	n/a
49	HMGN3	chr4:860765-861072	K562	blood:	n/a	n/a
50	HMGN3	chr4:852972-853024	K562	blood:	n/a	n/a

(count:3177 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:828198-828248	HL-60	blood:	n/a
2	chr4:846732-846782	PFSK-1	brain:	n/a
3	chr4:858814-858864	PFSK-1	brain:	n/a
4	chr4:854474-854524	SAEC	small airway:	n/a
5	chr4:855988-856038	HCPEpiC	choroid plexus:	n/a
6	chr4:828198-828248	HL-60	blood:	n/a
7	chr4:846732-846782	PFSK-1	brain:	n/a
8	chr4:858814-858864	PFSK-1	brain:	n/a
9	chr4:854474-854524	SAEC	small airway:	n/a
10	chr4:855988-856038	HCPEpiC	choroid plexus:	n/a
11	chr4:854474-854524	HAEpiC	amniotic membrane:	n/a
12	chr4:828098-828148	GM12878	blood:	n/a
13	chr4:852160-852210	IMR90	lung:	fetal
14	chr4:841759-841809	BE2_C	brain:	n/a
15	chr4:861224-861274	GM12878	blood:	n/a
16	chr4:860838-860888	Hela-S3	cervix:	n/a
17	chr4:846652-846702	T-47D	breast:	n/a
18	chr4:828149-828199	NHBE	bronchial:	n/a
19	chr4:847310-847360	HL-60	blood:	n/a
20	chr4:859328-859378	HRPEpiC	eye:	n/a
21	chr4:861224-861274	HEK293	kidney:	embryo
22	chr4:829753-829803	GM12892	blood:	n/a
23	chr4:844329-844379	GM12878	blood:	n/a
24	chr4:829753-829803	NHDF-neo	bronchial:	n/a
25	chr4:859328-859378	HUVEC	blood vessel:	n/a
26	chr4:854688-854738	NT2-D1	testis:	n/a
27	chr4:852160-852210	AG09309	skin:	n/a
28	chr4:830129-830179	HAEpiC	amniotic membrane:	n/a
29	chr4:859471-859521	H1-hESC	embryonic stem cell:	embryo
30	chr4:851793-851843	SK-N-MC	brain:	n/a
31	chr4:852022-852072	BJ	skin:	n/a
32	chr4:858648-858698	IMR90	lung:	fetal
33	chr4:841759-841809	NHBE	bronchial:	n/a
34	chr4:829373-829423	NT2-D1	testis:	n/a
35	chr4:841569-841619	GM19239	blood:	n/a
36	chr4:828281-828331	HCM	heart:	n/a
37	chr4:843344-843394	MCF-7	breast:	n/a
38	chr4:830129-830179	PANC-1	pancreas:	n/a
39	chr4:854688-854738	ovcar-3	ovarian:	n/a
40	chr4:858648-858698	GM19239	blood:	n/a
41	chr4:843828-843878	NT2-D1	testis:	n/a
42	chr4:860838-860888	HEK293	kidney:	embryo
43	chr4:828198-828248	A549	lung:	n/a
44	chr4:851935-851985	HIPEpiC	eye:	n/a
45	chr4:853036-853086	H1-hESC	embryonic stem cell:	embryo
46	chr4:841670-841720	HEK293	kidney:	embryo
47	chr4:843318-843368	U87	brain:	n/a
48	chr4:830645-830695	CMK	blood:	n/a
49	chr4:846652-846702	AoSMC	blood vessel:	n/a
50	chr4:859328-859378	PrEC	prostate:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:849056..851800-chr4:859991..861903,3	K562	blood:
2	chr4:848413..850023-chr4:852591..855386,3	K562	blood:
3	chr4:851167..852931-chr4:994797..996823,2	K562	blood:
4	chr4:841841..845277-chr4:851298..854143,3	K562	blood:
5	chr4:848413..850023-chr4:852591..855386,3	K562	blood:
6	chr4:832058..834845-chr4:1004120..1005952,2	MCF-7	breast:
7	chr4:837167..839761-chr4:843838..845758,2	K562	blood:
8	chr4:858604..860545-chr4:870716..872818,3	K562	blood:
9	chr4:835693..839507-chr4:843140..845149,3	K562	blood:
10	chr4:831253..832902-chr4:836853..838473,2	K562	blood:
11	chr4:835693..839507-chr4:843140..845149,3	K562	blood:
12	chr4:822237..824857-chr4:826820..829457,3	MCF-7	breast:
13	chr4:831253..832902-chr4:836853..838473,2	K562	blood:
14	chr4:835499..837438-chr4:837585..839240,2	MCF-7	breast:
15	chr4:841841..844172-chr4:851691..854143,3	K562	blood:
16	chr4:852977..854762-chr4:857237..859475,3	K562	blood:
17	chr4:837032..839261-chr4:841910..844601,2	MCF-7	breast:
18	chr4:852977..854762-chr4:857237..859475,3	K562	blood:
19	chr4:837032..839261-chr4:841910..844601,2	MCF-7	breast:
20	chr4:857086..858882-chr4:868913..870778,2	MCF-7	breast:
21	chr4:841841..844172-chr4:851691..854143,3	K562	blood:
22	chr4:832836..834891-chr4:838449..840859,2	K562	blood:
23	chr4:841841..845277-chr4:851298..854143,3	K562	blood:
24	chr4:782165..784382-chr4:833187..836148,2	MCF-7	breast:
25	chr4:835499..837438-chr4:837585..839240,2	MCF-7	breast:
26	chr4:832836..834891-chr4:838449..840859,2	K562	blood:
27	chr4:758761..760317-chr4:841497..843378,2	K562	blood:
28	chr4:853767..855933-chr4:865699..868669,2	K562	blood:
29	chr4:821558..823207-chr4:827876..830795,2	MCF-7	breast:
30	chr4:831025..832753-chr4:836973..838850,2	K562	blood:
31	chr4:829294..831482-chr4:833022..834982,2	K562	blood:
32	chr4:829399..831025-chr4:842323..844372,2	MCF-7	breast:
33	chr4:827903..829501-chr4:976207..978767,2	MCF-7	breast:
34	chr4:699605..701232-chr4:847515..849852,2	K562	blood:
35	chr4:829544..831715-chr4:924978..927589,2	MCF-7	breast:
36	chr4:827937..829545-chr4:861897..864228,2	K562	blood:
37	chr4:774090..776323-chr4:847875..849767,2	K562	blood:
38	chr4:846749..848551-chr4:850245..851895,3	K562	blood:
39	chr4:831025..832753-chr4:836973..838850,2	K562	blood:
40	chr4:855613..858404-chr4:873095..876275,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPLX1-10	chr4:849805-849945	NONHSAT094624
2	lnc-CPLX1-10	chr4:850179-850600	NONHSAT094624
3	lnc-CPLX1-1	chr4:830300-831012	ENSG00000260262.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GAK	hsa-miR-1	chr4:843294-843288
2	GAK	hsa-miR-1	chr4:843289-843310

Variant related genes	Relation type
ENSG00000260262	TF binding region
GAK	TF binding region
ENSG00000260262	CpG island
GAK	CpG island
ENSG00000127419	chromatin interactions
ENSG00000260262	chromatin interactions
ENSG00000178950	chromatin interactions
ENSG00000185619	chromatin interactions
ENSG00000127418	chromatin interactions
ENSG00000233799	chromatin interactions
ENSG00000249592	chromatin interactions
ENSG00000127415	chromatin interactions

Extended variants
information (count: 1876 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1876 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1078139	chr4:828148-828149	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575234674	chr4:828149-828150	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539156964	chr4:828157-828158	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554583606	chr4:828166-828167	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375408102	chr4:828171-828172	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181732503	chr4:828190-828191	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs55868906	chr4:828196-828197	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs578077539	chr4:828218-828219	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545708239	chr4:828225-828226	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568994303	chr4:828292-828293	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369849397	chr4:828301-828302	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142453325	chr4:828302-828303	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531092251	chr4:828348-828349	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542637461	chr4:828360-828361	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562339483	chr4:828367-828368	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111783111	chr4:828385-828386	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1078140	chr4:828426-828427	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2878442	chr4:828498-828499	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371179783	chr4:828516-828517	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373683782	chr4:828521-828522	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532180288	chr4:828593-828594	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186352956	chr4:828691-828692	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189764722	chr4:828693-828694	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536547527	chr4:828705-828706	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554647471	chr4:828721-828722	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566436229	chr4:828760-828761	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11931773	chr4:828772-828773	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545133419	chr4:828822-828823	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs1078138	chr4:828824-828825	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528243649	chr4:828847-828848	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545309169	chr4:828851-828852	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376944657	chr4:828858-828859	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575576523	chr4:828908-828909	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs75875984	chr4:828944-828945	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs560953931	chr4:828962-828963	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572854739	chr4:828974-828975	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540741317	chr4:828987-828988	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs35177456	chr4:828994-828995	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532616808	chr4:829013-829014	Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529141225	chr4:829047-829048	Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562664987	chr4:829064-829065	Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1078137	chr4:829065-829066	Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548459038	chr4:829069-829070	Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566498113	chr4:829092-829093	Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550899253	chr4:829095-829096	Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533523215	chr4:829099-829100	Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552137644	chr4:829111-829112	Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568713138	chr4:829124-829125	Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539426226	chr4:829139-829140	Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570479604	chr4:829210-829211	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:799 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:821000-828800	Weak transcription	Right Atrium	heart
2	chr4:825600-829000	Weak transcription	Left Ventricle	heart
3	chr4:825600-829000	Weak transcription	Right Ventricle	heart
4	chr4:825600-831600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:826400-829200	Bivalent Enhancer	Placenta	Placenta
6	chr4:826400-829600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:826400-830600	Weak transcription	Brain Germinal Matrix	brain
8	chr4:826600-828200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr4:826600-829600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:826800-828400	Weak transcription	Spleen	Spleen
11	chr4:826800-828800	Enhancers	HSMMtube	muscle
12	chr4:827000-828200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:827200-831600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:827400-828600	Enhancers	HSMM	muscle
15	chr4:827600-829000	Weak transcription	Esophagus	oesophagus
16	chr4:827800-830200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:828000-828200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:828000-828200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr4:828200-828400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:828200-828400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:828200-829000	Weak transcription	Fetal Heart	heart
22	chr4:828400-828800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:828400-829000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:828400-830400	Enhancers	Spleen	Spleen
25	chr4:828800-829400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:829000-829200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:829000-829200	Enhancers	Esophagus	oesophagus
28	chr4:829000-829400	Enhancers	Stomach Mucosa	stomach
29	chr4:829000-829600	Enhancers	Gastric	stomach
30	chr4:829000-829600	Bivalent Enhancer	HepG2	liver
31	chr4:829000-830000	Enhancers	Fetal Heart	heart
32	chr4:829000-830000	Enhancers	Left Ventricle	heart
33	chr4:829000-830000	Enhancers	Right Ventricle	heart
34	chr4:829000-831000	Enhancers	Pancreas	Pancrea
35	chr4:829200-830200	Enhancers	Ovary	ovary
36	chr4:829200-830800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:829400-829600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:829400-831200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:829600-829800	Enhancers	Hela-S3	cervix
40	chr4:829800-831800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:830200-830800	Weak transcription	Ovary	ovary
42	chr4:830400-831600	ZNF genes & repeats	Spleen	Spleen
43	chr4:830600-830800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:830600-830800	Enhancers	Brain Germinal Matrix	brain
45	chr4:830800-831000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:830800-831600	ZNF genes & repeats	Ovary	ovary
47	chr4:830800-832200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:831000-831600	ZNF genes & repeats	Gastric	stomach
49	chr4:831000-831600	ZNF genes & repeats	Pancreas	Pancrea
50	chr4:831200-836600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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