Variant report

Variant	esv2752053
Chromosome Location	chr4:10124819-10270300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2222)
CpG islands
(count:610)
Chromatin interactive
region (count:227)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2222 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:10172580-10173201	K562	blood:	n/a	n/a
2	ARID3A	chr4:10241023-10241142	K562	blood:	n/a	n/a
3	ARID3A	chr4:10206944-10207053	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:10182036-10184108	K562	blood:	n/a	n/a
5	ARID3A	chr4:10206912-10207070	K562	blood:	n/a	n/a
6	ARID3A	chr4:10175936-10176225	K562	blood:	n/a	n/a
7	ARID3A	chr4:10159442-10159716	K562	blood:	n/a	n/a
8	ARID3A	chr4:10125192-10125592	HepG2	liver:	n/a	n/a
9	ARID3A	chr4:10186847-10188023	K562	blood:	n/a	n/a
10	ARID3A	chr4:10242016-10242400	K562	blood:	n/a	n/a
11	ARID3A	chr4:10174858-10175646	K562	blood:	n/a	n/a
12	ARID3A	chr4:10171356-10172376	K562	blood:	n/a	n/a
13	ARID3A	chr4:10185222-10185607	K562	blood:	n/a	chr4:10185454-10185470
14	ARID3A	chr4:10188308-10188961	K562	blood:	n/a	n/a
15	ARID3A	chr4:10258670-10258802	K562	blood:	n/a	n/a
16	ARID3A	chr4:10202441-10202778	K562	blood:	n/a	n/a
17	ATF1	chr4:10182216-10183403	K562	blood:	n/a	n/a
18	ATF1	chr4:10172681-10173016	K562	blood:	n/a	n/a
19	ATF1	chr4:10199601-10200004	K562	blood:	n/a	n/a
20	ATF1	chr4:10188186-10188661	K562	blood:	n/a	n/a
21	ATF1	chr4:10184693-10185042	K562	blood:	n/a	n/a
22	ATF1	chr4:10187244-10187892	K562	blood:	n/a	n/a
23	ATF1	chr4:10159418-10159720	K562	blood:	n/a	n/a
24	ATF1	chr4:10171263-10171804	K562	blood:	n/a	n/a
25	ATF1	chr4:10174911-10175439	K562	blood:	n/a	n/a
26	ATF1	chr4:10241521-10242349	K562	blood:	n/a	n/a
27	ATF2	chr4:10159321-10159751	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr4:10159305-10159743	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr4:10152775-10153075	GM12878	blood:	n/a	n/a
30	ATF3	chr4:10174879-10175394	K562	blood:	n/a	n/a
31	ATF3	chr4:10187352-10187768	K562	blood:	n/a	n/a
32	ATF3	chr4:10159392-10159666	K562	blood:	n/a	chr4:10159502-10159515
33	ATF3	chr4:10241484-10241931	K562	blood:	n/a	chr4:10241683-10241696
34	ATF3	chr4:10182376-10183375	K562	blood:	n/a	n/a
35	BACH1	chr4:10166286-10166294	K562	blood:	n/a	n/a
36	BACH1	chr4:10159277-10159771	K562	blood:	n/a	n/a
37	BACH1	chr4:10203548-10203807	K562	blood:	n/a	n/a
38	BACH1	chr4:10174959-10175395	K562	blood:	n/a	n/a
39	BACH1	chr4:10236419-10236458	K562	blood:	n/a	n/a
40	BACH1	chr4:10174334-10174335	K562	blood:	n/a	n/a
41	BACH1	chr4:10187292-10187596	K562	blood:	n/a	n/a
42	BACH1	chr4:10182278-10183266	K562	blood:	n/a	n/a
43	BACH1	chr4:10185169-10185293	K562	blood:	n/a	n/a
44	BACH1	chr4:10166957-10167185	K562	blood:	n/a	n/a
45	BACH1	chr4:10258150-10258286	K562	blood:	n/a	n/a
46	BATF	chr4:10182721-10182989	GM12878	blood:	n/a	n/a
47	BATF	chr4:10133064-10133309	GM12878	blood:	n/a	n/a
48	BATF	chr4:10133063-10133313	GM12878	blood:	n/a	n/a
49	BCL3	chr4:10206907-10207282	GM12878	blood:	n/a	n/a
50	BCL3	chr4:10191805-10192054	GM12878	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:10147302-10147352	PANC-1	pancreas:	n/a
2	chr4:10149849-10149899	GM12892	blood:	n/a
3	chr4:10145483-10145533	AG04450	lung:	fetal
4	chr4:10147100-10147150	CMK	blood:	n/a
5	chr4:10147302-10147352	ProgFib	skin:	n/a
6	chr4:10143053-10143103	Hepatocyte	liver:	n/a
7	chr4:10160060-10160110	HCF	heart:	n/a
8	chr4:10143053-10143103	T-47D	breast:	n/a
9	chr4:10143053-10143103	AoSMC	blood vessel:	n/a
10	chr4:10125330-10125380	MCF-7	breast:	n/a
11	chr4:10147038-10147088	ProgFib	skin:	n/a
12	chr4:10145483-10145533	NH-A	brain:	n/a
13	chr4:10147038-10147088	PANC-1	pancreas:	n/a
14	chr4:10147606-10147656	HCPEpiC	choroid plexus:	n/a
15	chr4:10145483-10145533	MCF-7	breast:	n/a
16	chr4:10147038-10147088	AG04450	lung:	fetal
17	chr4:10147100-10147150	T-47D	breast:	n/a
18	chr4:10147330-10147380	GM19239	blood:	n/a
19	chr4:10143053-10143103	K562	blood:	n/a
20	chr4:10149849-10149899	PrEC	prostate:	n/a
21	chr4:10160060-10160110	HEEpiC	esophagus:	n/a
22	chr4:10145483-10145533	NB4	blood:	n/a
23	chr4:10147606-10147656	NT2-D1	testis:	n/a
24	chr4:10160060-10160110	IMR90	lung:	fetal
25	chr4:10147100-10147150	Caco-2	colon:	n/a
26	chr4:10149849-10149899	Jurkat	blood:	n/a
27	chr4:10147606-10147656	ECC-1	luminal epithelium:	n/a
28	chr4:10149849-10149899	GM12891	blood:	n/a
29	chr4:10149849-10149899	HCF	heart:	n/a
30	chr4:10145483-10145533	CMK	blood:	n/a
31	chr4:10147302-10147352	AG04450	lung:	fetal
32	chr4:10143053-10143103	MCF-7	breast:	n/a
33	chr4:10147330-10147380	SK-N-SH_RA	brain:	n/a
34	chr4:10147302-10147352	NHBE	bronchial:	n/a
35	chr4:10145483-10145533	MCF10A-Er-Src	breast:	n/a
36	chr4:10145483-10145533	HIPEpiC	eye:	n/a
37	chr4:10149849-10149899	HRPEpiC	eye:	n/a
38	chr4:10143053-10143103	SK-N-SH	brain:	n/a
39	chr4:10149849-10149899	A549	lung:	n/a
40	chr4:10147302-10147352	SKMC	muscle:	n/a
41	chr4:10149849-10149899	AG10803	skin:	n/a
42	chr4:10149849-10149899	MCF10A-Er-Src	breast:	n/a
43	chr4:10147302-10147352	ECC-1	luminal epithelium:	n/a
44	chr4:10160060-10160110	CMK	blood:	n/a
45	chr4:10147100-10147150	HL-60	blood:	n/a
46	chr4:10125330-10125380	HAEpiC	amniotic membrane:	n/a
47	chr4:10145483-10145533	HEEpiC	esophagus:	n/a
48	chr4:10147606-10147656	PANC-1	pancreas:	n/a
49	chr4:10147038-10147088	ECC-1	luminal epithelium:	n/a
50	chr4:10147100-10147150	Hela-S3	cervix:	n/a

(count:227 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr4:10182491..10184302-chr4:10237283..10239761,2	K562	blood:
2	chr4:10119817..10122040-chr4:10243013..10245878,2	K562	blood:
3	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
4	chr4:10182716..10185413-chr4:10249318..10252021,2	K562	blood:
5	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
6	chr4:10110208..10112839-chr4:10141638..10144449,2	MCF-7	breast:
7	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
8	chr4:10124627..10126326-chr4:10129593..10131682,2	MCF-7	breast:
9	chr4:10116325..10123199-chr4:10169149..10177855,21	K562	blood:
10	chr4:10158010..10160333-chr4:10437817..10440737,2	K562	blood:
11	chr4:10179915..10182843-chr4:10450700..10452839,2	K562	blood:
12	chr4:10150688..10152239-chr4:10154005..10156791,2	K562	blood:
13	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
14	chr4:10117528..10120943-chr4:10131939..10133897,4	MCF-7	breast:
15	chr4:10124769..10127534-chr4:10135159..10136966,2	MCF-7	breast:
16	chr4:10181898..10186356-chr4:10317430..10320755,4	K562	blood:
17	chr4:10109894..10126876-chr4:10164648..10190106,79	K562	blood:
18	chr4:10181426..10184302-chr4:10237283..10239761,3	K562	blood:
19	chr4:10156172..10158401-chr4:10178392..10179954,2	K562	blood:
20	chr4:10266281..10269337-chr4:10269908..10272870,3	K562	blood:
21	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
22	chr4:10141623..10144820-chr4:10145857..10148531,3	K562	blood:
23	chr4:10173514..10177541-chr4:10443857..10446930,3	K562	blood:
24	chr4:10171115..10173658-chr4:10254307..10257090,2	K562	blood:
25	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
26	chr4:10254662..10256804-chr4:10260995..10262728,2	K562	blood:
27	chr4:10166189..10167113-chr4:10551000..10552086,3	MCF-7	breast:
28	chr4:10165903..10168762-chr4:10325993..10328173,3	K562	blood:
29	chr4:10028896..10030894-chr4:10122706..10125313,2	K562	blood:
30	chr4:10124578..10127302-chr4:10186119..10188725,2	K562	blood:
31	chr4:10186685..10189037-chr4:10459555..10461188,2	K562	blood:
32	chr4:10249783..10252189-chr4:10254326..10257178,3	K562	blood:
33	chr4:10207125..10208799-chr4:10284967..10286577,2	K562	blood:
34	chr4:10166411..10167001-chr4:10551169..10551934,2	MCF-7	breast:
35	chr4:10161449..10162536-chr4:10550736..10551916,8	MCF-7	breast:
36	chr4:10137029..10138548-chr4:10444331..10446997,2	K562	blood:
37	chr4:10133192..10134746-chr4:10556529..10559334,2	K562	blood:
38	chr4:10181386..10184366-chr4:10364568..10366943,2	K562	blood:
39	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
40	chr4:10118185..10123341-chr4:10157230..10162785,8	K562	blood:
41	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
42	chr4:10177971..10181867-chr4:10459708..10464611,4	K562	blood:
43	chr4:10155458..10156959-chr4:10169942..10172746,2	K562	blood:
44	chr4:10160663..10163901-chr4:10177399..10182680,5	K562	blood:
45	chr4:10171114..10171975-chr4:10185300..10186046,2	K562	blood:
46	chr4:10158544..10160312-chr4:10404691..10406060,12	K562	blood:
47	chr4:10147647..10149912-chr4:10150747..10153139,2	K562	blood:
48	chr4:10150688..10152239-chr4:10154005..10156791,2	K562	blood:
49	chr4:10262775..10265010-chr4:10265780..10268025,2	K562	blood:
50	chr4:10151902..10153544-chr4:10159740..10162552,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR1-11	chr4:10269519-10269855	NONHSAT095492
2	lnc-WDR1-6	chr4:10168783-10169389	NONHSAT095487
3	lnc-WDR1-10	chr4:10261069-10261762	NONHSAT095491
4	lnc-WDR1-9	chr4:10256550-10258245	NONHSAT095490
5	lnc-WDR1-7	chr4:10201447-10202296	NONHSAT095488
6	lnc-WDR1-4	chr4:10151989-10152058	NONHSAT095472
7	lnc-WDR1-4	chr4:10159007-10159491	NONHSAT095472
8	lnc-WDR1-2	chr4:10144991-10145279	NONHSAT095429

No data

Variant related genes	Relation type
ENSG00000248777	TF binding region
ENSG00000271544	TF binding region
ENSG00000250573	TF binding region
ENSG00000250040	TF binding region
ENSG00000251296	TF binding region
ENSG00000250074	TF binding region
ENSG00000250393	TF binding region
ENSG00000248777	CpG island
ENSG00000271544	CpG island
ENSG00000250573	CpG island
ENSG00000250040	CpG island
ENSG00000251296	CpG island
ENSG00000250074	CpG island
ENSG00000250393	CpG island
ENSG00000271544	chromatin interactions
ENSG00000250040	chromatin interactions
ENSG00000109787	chromatin interactions
ENSG00000248777	chromatin interactions
ENSG00000250613	chromatin interactions
ENSG00000231160	chromatin interactions
ENSG00000251296	chromatin interactions
ENSG00000250393	chromatin interactions
ENSG00000178163	chromatin interactions
ENSG00000196355	chromatin interactions
ENSG00000250573	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000223086	chromatin interactions

Extended variants
information (count: 10170 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:10170 , 50 per page) page: 1 2 3 4 5 6 7 ... 204

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4444830	chr4:10124819-10124820	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4456954	chr4:10124838-10124839	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs539910926	chr4:10124841-10124842	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs547310012	chr4:10124843-10124844	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs568617410	chr4:10124851-10124852	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs74881393	chr4:10124854-10124855	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs116315686	chr4:10124858-10124859	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569460140	chr4:10124864-10124865	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573532830	chr4:10124866-10124867	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539571924	chr4:10124868-10124869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs62286568	chr4:10124889-10124890	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566516073	chr4:10124890-10124891	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145099607	chr4:10124902-10124903	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs188469217	chr4:10124927-10124928	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573825929	chr4:10124930-10124931	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs544411758	chr4:10124931-10124932	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs556119095	chr4:10124937-10124938	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577394976	chr4:10124940-10124941	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112061366	chr4:10124944-10124945	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs374260973	chr4:10124946-10124947	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs377471007	chr4:10124968-10124969	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs34245485	chr4:10124970-10124971	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs140703177	chr4:10124979-10124980	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs192727805	chr4:10124996-10124997	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369451981	chr4:10125001-10125002	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs115217731	chr4:10125002-10125003	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75869702	chr4:10125017-10125018	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs79924508	chr4:10125018-10125019	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs3886039	chr4:10125115-10125116	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs569520266	chr4:10125117-10125118	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs533558674	chr4:10125126-10125127	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs551511884	chr4:10125127-10125128	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566528081	chr4:10125149-10125150	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs4383618	chr4:10125151-10125152	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs62286569	chr4:10125157-10125158	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs567237546	chr4:10125159-10125160	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77043352	chr4:10125177-10125178	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556034541	chr4:10125179-10125180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs74744064	chr4:10125189-10125190	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs4572881	chr4:10125200-10125201	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557831195	chr4:10125201-10125202	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs565348942	chr4:10125210-10125211	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573225493	chr4:10125224-10125225	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs715979	chr4:10125242-10125243	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs561970676	chr4:10125246-10125247	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs115283239	chr4:10125248-10125249	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372930451	chr4:10125252-10125253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs3886038	chr4:10125255-10125256	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs574123218	chr4:10125262-10125263	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs112389131	chr4:10125277-10125278	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
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
Prostate cancer	18632612	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10119400-10126200	Enhancers	Fetal Intestine Large	intestine
2	chr4:10119600-10125400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:10119600-10126000	Enhancers	Fetal Stomach	stomach
4	chr4:10119600-10126400	Enhancers	Fetal Intestine Small	intestine
5	chr4:10119800-10125000	Weak transcription	Hela-S3	cervix
6	chr4:10120000-10125000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:10120000-10127200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:10120200-10125000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:10120200-10125000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:10120200-10125200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:10120200-10126800	Enhancers	Fetal Thymus	thymus
12	chr4:10120400-10125000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:10120400-10125000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:10120400-10125200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:10120400-10125200	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:10120400-10125200	Weak transcription	Small Intestine	intestine
17	chr4:10120400-10125400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:10120400-10126200	Enhancers	Duodenum Mucosa	Duodenum
19	chr4:10120600-10125200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:10120600-10125400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:10120600-10127400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr4:10120800-10125000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:10120800-10125000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:10120800-10125200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:10120800-10125600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:10120800-10127400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr4:10121200-10125200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:10121400-10125200	Weak transcription	Fetal Heart	heart
29	chr4:10121600-10126800	Enhancers	Primary hematopoietic stem cells	blood
30	chr4:10121800-10127400	Enhancers	Dnd41	blood
31	chr4:10122200-10125000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:10122600-10125800	Enhancers	Fetal Kidney	kidney
33	chr4:10122600-10126600	Enhancers	Thymus	Thymus
34	chr4:10122800-10126200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:10123000-10125800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:10123000-10126000	Enhancers	Fetal Lung	lung
37	chr4:10123200-10125600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr4:10123200-10126200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr4:10123400-10126600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr4:10123400-10127800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr4:10123600-10126400	Enhancers	Placenta	Placenta
42	chr4:10123800-10125200	Weak transcription	Colonic Mucosa	Colon
43	chr4:10123800-10125800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:10123800-10126600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr4:10124200-10125000	Enhancers	HUVEC	blood vessel
46	chr4:10124200-10125200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:10124200-10125200	Weak transcription	Liver	Liver
48	chr4:10124200-10125200	Weak transcription	K562	blood
49	chr4:10124200-10125800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:10124200-10126200	Enhancers	Lung	lung

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