Variant report

Variant	esv3496298
Chromosome Location	chr7:66099491-66136579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1442)
CpG islands
(count:549)
Chromatin interactive
region (count:74)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1442 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:66104611-66105223	K562	blood:	n/a	n/a
2	ARID3A	chr7:66122346-66122452	K562	blood:	n/a	n/a
3	ARID3A	chr7:66119183-66119719	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:66119116-66119616	K562	blood:	n/a	n/a
5	ATF1	chr7:66119167-66119664	K562	blood:	n/a	n/a
6	ATF1	chr7:66101026-66101226	K562	blood:	n/a	n/a
7	ATF1	chr7:66104717-66105151	K562	blood:	n/a	n/a
8	ATF2	chr7:66119162-66119631	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr7:66118840-66119779	GM12878	blood:	n/a	n/a
10	ATF2	chr7:66118932-66119634	GM12878	blood:	n/a	n/a
11	ATF2	chr7:66119169-66119662	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr7:66119716-66120068	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr7:66119168-66119702	A549	lung:	n/a	chr7:66119369-66119380 chr7:66119491-66119500 chr7:66119500-66119509
14	ATF3	chr7:66119105-66119640	A549	lung:	n/a	chr7:66119369-66119380 chr7:66119491-66119500 chr7:66119500-66119509
15	ATF3	chr7:66119127-66119687	K562	blood:	n/a	chr7:66119369-66119380 chr7:66119491-66119500 chr7:66119500-66119509
16	BACH1	chr7:66119044-66120214	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr7:66100829-66101297	GM12878	blood:	n/a	chr7:66101098-66101109
18	BATF	chr7:66100936-66101242	GM12878	blood:	n/a	chr7:66101098-66101109
19	BATF	chr7:66099775-66100175	GM12878	blood:	n/a	n/a
20	BCL11A	chr7:66099808-66100193	GM12878	blood:	n/a	n/a
21	BCL3	chr7:66119035-66119833	A549	lung:	n/a	chr7:66119448-66119457 chr7:66119665-66119678
22	BCL3	chr7:66119135-66119682	GM12878	blood:	n/a	chr7:66119448-66119457 chr7:66119665-66119678
23	BCL3	chr7:66119260-66119740	GM12878	blood:	n/a	chr7:66119448-66119457 chr7:66119665-66119678
24	BCL3	chr7:66118929-66120075	A549	lung:	n/a	chr7:66119961-66119970 chr7:66119921-66119934 chr7:66119448-66119457 chr7:66119665-66119678
25	BCLAF1	chr7:66118933-66119785	GM12878	blood:	n/a	chr7:66119448-66119457 chr7:66119665-66119678
26	BCLAF1	chr7:66118954-66119662	GM12878	blood:	n/a	chr7:66119448-66119457
27	BCLAF1	chr7:66099790-66100292	GM12878	blood:	n/a	n/a
28	BHLHE40	chr7:66120241-66120374	K562	blood:	n/a	n/a
29	BHLHE40	chr7:66119049-66119955	GM12878	blood:	n/a	chr7:66119491-66119507 chr7:66119250-66119266
30	BHLHE40	chr7:66101050-66101137	K562	blood:	n/a	n/a
31	BHLHE40	chr7:66119077-66119999	K562	blood:	n/a	chr7:66119491-66119507 chr7:66119250-66119266
32	BHLHE40	chr7:66103210-66103286	HepG2	liver:	n/a	n/a
33	BHLHE40	chr7:66104677-66105571	K562	blood:	n/a	n/a
34	BHLHE40	chr7:66118327-66118594	K562	blood:	n/a	n/a
35	BRCA1	chr7:66119104-66119557	GM12878	blood:	n/a	n/a
36	BRCA1	chr7:66108653-66108717	GM12878	blood:	n/a	n/a
37	BRCA1	chr7:66119935-66120048	HepG2	liver:	n/a	n/a
38	BRCA1	chr7:66119118-66119652	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr7:66106227-66106309	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr7:66119207-66119728	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr7:66119085-66119705	HepG2	liver:	n/a	n/a
42	CBX3	chr7:66120040-66120476	K562	blood:	n/a	n/a
43	CBX3	chr7:66100900-66101327	K562	blood:	n/a	n/a
44	CBX3	chr7:66118903-66119724	K562	blood:	n/a	n/a
45	CBX3	chr7:66104404-66105221	K562	blood:	n/a	n/a
46	CBX3	chr7:66104699-66105168	K562	blood:	n/a	n/a
47	CBX3	chr7:66118815-66120480	K562	blood:	n/a	n/a
48	CBX3	chr7:66127900-66128288	K562	blood:	n/a	n/a
49	CCNT2	chr7:66119053-66120118	K562	blood:	n/a	chr7:66119500-66119509
50	CCNT2	chr7:66104577-66105204	K562	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:66116545-66116595	SK-N-SH_RA	brain:	n/a
2	chr7:66119076-66119126	NHDF-neo	bronchial:	n/a
3	chr7:66120395-66120445	T-47D	breast:	n/a
4	chr7:66105984-66106034	HRPEpiC	eye:	n/a
5	chr7:66118400-66118450	ovcar-3	ovarian:	n/a
6	chr7:66119851-66119901	HEK293	kidney:	embryo
7	chr7:66118400-66118450	H1-hESC	embryonic stem cell:	embryo
8	chr7:66116545-66116595	H1-hESC	embryonic stem cell:	embryo
9	chr7:66105984-66106034	H1-hESC	embryonic stem cell:	embryo
10	chr7:66119851-66119901	NHDF-neo	bronchial:	n/a
11	chr7:66119076-66119126	Jurkat	blood:	n/a
12	chr7:66119076-66119126	Hepatocyte	liver:	n/a
13	chr7:66116545-66116595	HIPEpiC	eye:	n/a
14	chr7:66105984-66106034	HMEC	breast:	n/a
15	chr7:66120042-66120092	RPTEC	kidney:	n/a
16	chr7:66119851-66119901	BE2_C	brain:	n/a
17	chr7:66105984-66106034	ovcar-3	ovarian:	n/a
18	chr7:66118400-66118450	A549	lung:	n/a
19	chr7:66119851-66119901	U87	brain:	n/a
20	chr7:66116545-66116595	HepG2	liver:	n/a
21	chr7:66119076-66119126	HCM	heart:	n/a
22	chr7:66119479-66119529	ProgFib	skin:	n/a
23	chr7:66121172-66121222	A549	lung:	n/a
24	chr7:66118400-66118450	AoSMC	blood vessel:	n/a
25	chr7:66119076-66119126	PFSK-1	brain:	n/a
26	chr7:66119076-66119126	HNPCEpiC	eye:	n/a
27	chr7:66105984-66106034	PrEC	prostate:	n/a
28	chr7:66116545-66116595	CMK	blood:	n/a
29	chr7:66116545-66116595	MCF10A-Er-Src	breast:	n/a
30	chr7:66119076-66119126	HCPEpiC	choroid plexus:	n/a
31	chr7:66119479-66119529	NHDF-neo	bronchial:	n/a
32	chr7:66119851-66119901	LNCaP	prostate:	n/a
33	chr7:66119076-66119126	K562	blood:	n/a
34	chr7:66119479-66119529	HRE	kidney:	n/a
35	chr7:66118400-66118450	U87	brain:	n/a
36	chr7:66120395-66120445	H1-hESC	embryonic stem cell:	embryo
37	chr7:66120395-66120445	NB4	blood:	n/a
38	chr7:66118400-66118450	PANC-1	pancreas:	n/a
39	chr7:66120042-66120092	LNCaP	prostate:	n/a
40	chr7:66121172-66121222	AG04450	lung:	fetal
41	chr7:66116545-66116595	HMEC	breast:	n/a
42	chr7:66116545-66116595	ovcar-3	ovarian:	n/a
43	chr7:66119851-66119901	GM12878	blood:	n/a
44	chr7:66120395-66120445	NHBE	bronchial:	n/a
45	chr7:66121172-66121222	ovcar-3	ovarian:	n/a
46	chr7:66105984-66106034	GM06990	blood:	n/a
47	chr7:66120042-66120092	HCM	heart:	n/a
48	chr7:66119076-66119126	Caco-2	colon:	n/a
49	chr7:66121172-66121222	NT2-D1	testis:	n/a
50	chr7:66105984-66106034	SKMC	muscle:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:66055924..66057616-chr7:66118024..66120875,2	K562	blood:
2	chr7:66055703..66058887-chr7:66117840..66121190,6	MCF-7	breast:
3	chr7:66091949..66098427-chr7:66102890..66108956,6	K562	blood:
4	chr7:66119490..66121348-chr7:66145844..66148158,2	K562	blood:
5	chr7:66133503..66137997-chr7:66139253..66143655,5	MCF-7	breast:
6	chr5:38845869..38846666-chr7:66119372..66120019,2	Hela-S3	cervix:
7	chr7:66125049..66126880-chr7:66129177..66130739,2	K562	blood:
8	chr7:66118965..66120049-chr7:66146710..66147584,5	MCF-7	breast:
9	chr2:10262501..10263375-chr7:66119471..66120046,2	Hela-S3	cervix:
10	chr7:66130351..66133208-chr7:66135142..66136772,2	K562	blood:
11	chr7:66130351..66133208-chr7:66135142..66136772,2	K562	blood:
12	chr14:50233938..50234677-chr7:66119528..66120183,2	Hela-S3	cervix:
13	chr6:27100755..27103538-chr7:66129131..66132077,2	K562	blood:
14	chr7:66106453..66108047-chr7:66113276..66115023,2	MCF-7	breast:
15	chr7:66127237..66129875-chr7:66131480..66133745,3	K562	blood:
16	chr7:66117992..66119894-chr7:66123194..66126181,3	MCF-7	breast:
17	chr7:66092456..66095854-chr7:66117562..66119715,4	MCF-7	breast:
18	chr7:66117820..66120556-chr7:66129006..66130726,2	MCF-7	breast:
19	chr7:66118018..66119679-chr7:66125379..66127890,2	K562	blood:
20	chr7:66109569..66111669-chr7:66397227..66398800,2	K562	blood:
21	chr7:66102739..66106974-chr7:66106983..66113666,6	K562	blood:
22	chr5:172260720..172261679-chr7:66119494..66120203,2	Hela-S3	cervix:
23	chr20:62205090..62205853-chr7:66119345..66120093,2	Hela-S3	cervix:
24	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
25	chr7:66119683..66120356-chr7:66146838..66147583,2	Hela-S3	cervix:
26	chr7:66102739..66106974-chr7:66106983..66113666,6	K562	blood:
27	chr7:66112224..66114650-chr7:66117842..66120552,3	K562	blood:
28	chr7:66118717..66119559-chr8:27168671..27169259,2	Hela-S3	cervix:
29	chr7:66118152..66121117-chr7:66145225..66147766,4	MCF-7	breast:
30	chr7:66104853..66106959-chr7:66112169..66114610,2	MCF-7	breast:
31	chr2:47403217..47403917-chr7:66119526..66120066,2	Hela-S3	cervix:
32	chr7:66117717..66119604-chr7:66204829..66207389,2	K562	blood:
33	chr7:66127237..66129875-chr7:66131480..66133745,3	K562	blood:
34	chr7:66119503..66123638-chr7:66124009..66126767,3	K562	blood:
35	chr7:66108448..66114561-chr7:66117849..66121082,8	MCF-7	breast:
36	chr15:65477549..65478089-chr7:66119158..66119930,2	NB4	blood:
37	chr7:66104393..66107540-chr7:66116176..66121450,6	K562	blood:
38	chr7:66052648..66055044-chr7:66119940..66122450,2	K562	blood:
39	chr7:66057089..66058906-chr7:66114378..66117373,2	MCF-7	breast:
40	chr7:66108414..66111030-chr7:66116734..66119540,3	K562	blood:
41	chr6:31619887..31620869-chr7:66119424..66120022,2	Hela-S3	cervix:
42	chr7:66121223..66123141-chr7:66144196..66146928,3	MCF-7	breast:
43	chr7:66106453..66108047-chr7:66113276..66115023,2	MCF-7	breast:
44	chr7:66118921..66119611-chr7:66204868..66205819,2	HCT-116	colon:
45	chr7:66085871..66088222-chr7:66108390..66110154,2	K562	blood:
46	chr7:66110828..66113551-chr7:66145936..66148699,2	K562	blood:
47	chr7:66107277..66110029-chr7:66113989..66116084,2	MCF-7	breast:
48	chr7:66116638..66119241-chr7:66120094..66122874,2	K562	blood:
49	chr7:66100884..66103090-chr7:66203638..66205871,2	MCF-7	breast:
50	chr7:66115224..66117671-chr7:66117992..66120004,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RABGEF1-2	chr7:66130157-66130274	ENSG00000226824.2
2	lnc-RABGEF1-2	chr7:66133751-66133900	NR_110037
3	lnc-RABGEF1-2	chr7:66119525-66119613	ENSG00000226824.2
4	lnc-RABGEF1-2	chr7:66134217-66134589	NR_110037
5	lnc-RABGEF1-2	chr7:66134217-66134285	ENSG00000226824.2
6	lnc-RABGEF1-2	chr7:66119573-66119613	ENSG00000226824.2
7	lnc-RABGEF1-2	chr7:66119506-66119613	NR_110037
8	lnc-RABGEF1-2	chr7:66133763-66133900	NONHSAT121218
9	lnc-RABGEF1-2	chr7:66131101-66131286	ENSG00000226824.2
10	lnc-RABGEF1-2	chr7:66119538-66119613	ENSG00000226824.2
11	lnc-RABGEF1-2	chr7:66133751-66133900	ENSG00000226824.2
12	lnc-RABGEF1-2	chr7:66133437-66133471	NONHSAT121218
13	lnc-RABGEF1-2	chr7:66134730-66134842	ENSG00000226824.2
14	lnc-RABGEF1-2	chr7:66134126-66134718	NONHSAT121218
15	lnc-RABGEF1-2	chr7:66133751-66133900	ENSG00000226824.2
16	lnc-RABGEF1-2	chr7:66132385-66132597	ENSG00000226824.2
17	lnc-RABGEF1-2	chr7:66132385-66132597	NR_110037

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KCTD7	hsa-miR-92a-3p	chr7:66106745-66106769

Variant related genes	Relation type
ENSG00000226824	TF binding region
ENSG00000226824	CpG island
ENSG00000143933	chromatin interactions
ENSG00000166855	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000226824	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000113719	chromatin interactions
ENSG00000204444	chromatin interactions
ENSG00000101384	chromatin interactions
ENSG00000145623	chromatin interactions
ENSG00000126522	chromatin interactions
ENSG00000272831	chromatin interactions
ENSG00000154710	chromatin interactions
ENSG00000165516	chromatin interactions
ENSG00000130589	chromatin interactions
ENSG00000104228	chromatin interactions
ENSG00000106609	chromatin interactions
ENSG00000120899	chromatin interactions
ENSG00000249740	chromatin interactions
ENSG00000243335	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000175467	chromatin interactions
ENSG00000232559	chromatin interactions

Extended variants
information (count: 1535 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1535 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554714045	chr7:66099508-66099509	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs58026597	chr7:66099577-66099578	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545255159	chr7:66099648-66099649	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12536586	chr7:66099649-66099650	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs141309958	chr7:66099659-66099660	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146974954	chr7:66099662-66099663	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376357002	chr7:66099690-66099691	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563539659	chr7:66099739-66099740	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73702137	chr7:66099746-66099747	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76376025	chr7:66099748-66099749	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35694149	chr7:66099749-66099750	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs57784651	chr7:66099750-66099751	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190097143	chr7:66099762-66099763	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201035199	chr7:66099776-66099777	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs62469067	chr7:66099790-66099791	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs566192886	chr7:66099849-66099850	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554290238	chr7:66099903-66099904	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147647370	chr7:66099904-66099905	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571581175	chr7:66099926-66099927	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372424339	chr7:66099999-66100000	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79812221	chr7:66100000-66100001	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs398005002	chr7:66100018-66100019	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537352444	chr7:66100026-66100027	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556877142	chr7:66100027-66100028	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553804692	chr7:66100081-66100082	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567144474	chr7:66100092-66100093	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536294119	chr7:66100113-66100114	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552774222	chr7:66100120-66100121	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572986534	chr7:66100125-66100126	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545193865	chr7:66100150-66100151	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs142746408	chr7:66100175-66100176	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545349385	chr7:66100177-66100178	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558785747	chr7:66100199-66100200	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552562397	chr7:66100236-66100237	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575567495	chr7:66100298-66100299	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544167634	chr7:66100303-66100304	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140858575	chr7:66100304-66100305	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529250640	chr7:66100332-66100333	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374407103	chr7:66100402-66100403	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559386769	chr7:66100451-66100452	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528586470	chr7:66100475-66100476	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551514456	chr7:66100489-66100490	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571518064	chr7:66100506-66100507	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572570554	chr7:66100514-66100515	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368302667	chr7:66100558-66100559	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531051720	chr7:66100602-66100603	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs117363632	chr7:66100688-66100689	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567979166	chr7:66100737-66100738	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535858138	chr7:66100749-66100750	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541585102	chr7:66100775-66100776	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:1504 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66094400-66103200	Weak transcription	Small Intestine	intestine
2	chr7:66094800-66103400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:66095000-66099600	Weak transcription	A549	lung
4	chr7:66095000-66101000	Weak transcription	NHEK	skin
5	chr7:66095000-66102400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:66095000-66103000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:66095000-66103000	Weak transcription	Fetal Kidney	kidney
8	chr7:66095000-66103000	Weak transcription	Fetal Lung	lung
9	chr7:66095000-66103200	Weak transcription	Psoas Muscle	Psoas
10	chr7:66095000-66103400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:66095000-66103400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:66095000-66103400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:66095000-66104200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:66095000-66108800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:66095000-66109000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:66095000-66115200	Weak transcription	HMEC	breast
17	chr7:66095200-66099800	Weak transcription	Colonic Mucosa	Colon
18	chr7:66095200-66101000	Weak transcription	NHDF-Ad	bronchial
19	chr7:66095200-66103000	Weak transcription	Stomach Mucosa	stomach
20	chr7:66095200-66103200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:66095200-66118400	Weak transcription	Fetal Heart	heart
22	chr7:66095200-66118400	Weak transcription	HUVEC	blood vessel
23	chr7:66095400-66101000	Weak transcription	NH-A	brain
24	chr7:66095400-66103200	Weak transcription	Pancreas	Pancrea
25	chr7:66095800-66100800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:66095800-66101000	Weak transcription	HSMM	muscle
27	chr7:66095800-66101000	Weak transcription	K562	blood
28	chr7:66095800-66102800	Weak transcription	Fetal Brain Male	brain
29	chr7:66095800-66103200	Weak transcription	Esophagus	oesophagus
30	chr7:66096000-66113800	Strong transcription	Fetal Stomach	stomach
31	chr7:66096200-66101000	Weak transcription	NHLF	lung
32	chr7:66097000-66113400	Strong transcription	Fetal Brain Female	brain
33	chr7:66097600-66103000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:66097600-66103000	Weak transcription	Dnd41	blood
35	chr7:66097800-66118200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:66098000-66099800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:66098000-66100000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:66098000-66100200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:66098000-66100200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:66098000-66101200	Strong transcription	Brain Germinal Matrix	brain
41	chr7:66098000-66102600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:66098000-66109800	Strong transcription	Adipose Nuclei	Adipose
43	chr7:66098000-66111000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:66098000-66111400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:66098000-66112800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr7:66098000-66113200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:66098000-66113400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:66098200-66099600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:66098200-66099600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr7:66098200-66099600	Strong transcription	Rectal Mucosa Donor 29	rectum

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