Variant report

Variant	nsv889431
Chromosome Location	chr7:149553819-149671262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1697)
CpG islands
(count:2748)
Chromatin interactive
region (count:43)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1697 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:149570724-149570796	K562	blood:	n/a	n/a
2	ARID3A	chr7:149582723-149583399	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:149558472-149558699	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:149569917-149570279	HepG2	liver:	n/a	n/a
5	ATF2	chr7:149580488-149580895	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr7:149582481-149582971	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr7:149570786-149571273	A549	lung:	n/a	n/a
8	ATF3	chr7:149570787-149571275	A549	lung:	n/a	n/a
9	ATF3	chr7:149570878-149571254	K562	blood:	n/a	n/a
10	ATF3	chr7:149569772-149570122	K562	blood:	n/a	n/a
11	BACH1	chr7:149570143-149571239	K562	blood:	n/a	n/a
12	BACH1	chr7:149570614-149570991	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr7:149580465-149580839	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr7:149557273-149557484	K562	blood:	n/a	n/a
15	BATF	chr7:149618320-149618563	GM12878	blood:	n/a	n/a
16	BATF	chr7:149568705-149569074	GM12878	blood:	n/a	n/a
17	BATF	chr7:149568758-149569093	GM12878	blood:	n/a	n/a
18	BCL3	chr7:149631103-149631404	GM12878	blood:	n/a	n/a
19	BCL3	chr7:149630950-149631218	GM12878	blood:	n/a	n/a
20	BHLHE40	chr7:149570982-149571281	GM12878	blood:	n/a	n/a
21	BHLHE40	chr7:149558356-149558979	K562	blood:	n/a	n/a
22	BHLHE40	chr7:149570284-149570668	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:149569534-149570143	HepG2	liver:	n/a	n/a
24	BHLHE40	chr7:149580418-149581011	K562	blood:	n/a	n/a
25	BHLHE40	chr7:149569494-149571562	K562	blood:	n/a	n/a
26	BHLHE40	chr7:149567871-149567960	K562	blood:	n/a	n/a
27	BHLHE40	chr7:149570710-149572354	HepG2	liver:	n/a	n/a
28	BHLHE40	chr7:149559495-149559510	K562	blood:	n/a	n/a
29	BRCA1	chr7:149571926-149572401	HepG2	liver:	n/a	n/a
30	BRCA1	chr7:149569691-149570033	HepG2	liver:	n/a	n/a
31	BRCA1	chr7:149571389-149571516	HepG2	liver:	n/a	n/a
32	BRCA1	chr7:149581295-149581426	HepG2	liver:	n/a	n/a
33	BRCA1	chr7:149558532-149558669	HepG2	liver:	n/a	n/a
34	BRCA1	chr7:149561921-149562021	HepG2	liver:	n/a	n/a
35	BRCA1	chr7:149570995-149571386	GM12878	blood:	n/a	n/a
36	CBX3	chr7:149558335-149558944	K562	blood:	n/a	n/a
37	CBX3	chr7:149569381-149570140	K562	blood:	n/a	n/a
38	CBX3	chr7:149569402-149571354	K562	blood:	n/a	n/a
39	CCNT2	chr7:149565719-149565772	K562	blood:	n/a	n/a
40	CCNT2	chr7:149570061-149571478	K562	blood:	n/a	n/a
41	CCNT2	chr7:149558398-149558816	K562	blood:	n/a	n/a
42	CEBPB	chr7:149564427-149564666	HepG2	liver:	n/a	n/a
43	CEBPB	chr7:149600657-149600793	K562	blood:	n/a	chr7:149600686-149600697
44	CEBPB	chr7:149600641-149600848	A549	lung:	n/a	chr7:149600686-149600697
45	CEBPB	chr7:149581488-149581752	HepG2	liver:	n/a	chr7:149581616-149581627
46	CEBPB	chr7:149571052-149571226	K562	blood:	n/a	n/a
47	CEBPB	chr7:149571848-149572136	HepG2	liver:	n/a	n/a
48	CEBPB	chr7:149600659-149600827	HepG2	liver:	n/a	chr7:149600686-149600697
49	CEBPB	chr7:149572398-149572529	K562	blood:	n/a	chr7:149572404-149572417
50	CEBPB	chr7:149615022-149615161	K562	blood:	n/a	chr7:149615084-149615093 chr7:149615082-149615095 chr7:149615084-149615093 chr7:149615084-149615093 chr7:149615083-149615094 chr7:149615084-149615093 chr7:149615082-149615095 chr7:149615082-149615093

(count:2748 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149580879-149580929	HNPCEpiC	eye:	n/a
2	chr7:149575067-149575117	Caco-2	colon:	n/a
3	chr7:149570036-149570086	NHDF-neo	bronchial:	n/a
4	chr7:149580879-149580929	HNPCEpiC	eye:	n/a
5	chr7:149575067-149575117	Caco-2	colon:	n/a
6	chr7:149570036-149570086	NHDF-neo	bronchial:	n/a
7	chr7:149570128-149570178	HCM	heart:	n/a
8	chr7:149567078-149567128	Hepatocyte	liver:	n/a
9	chr7:149557121-149557171	Jurkat	blood:	n/a
10	chr7:149570163-149570213	K562	blood:	n/a
11	chr7:149578441-149578491	GM12878	blood:	n/a
12	chr7:149559471-149559521	SAEC	small airway:	n/a
13	chr7:149570163-149570213	AG09319	gingival:	n/a
14	chr7:149642580-149642630	HRCEpiC	kidney:	n/a
15	chr7:149567078-149567128	AG10803	skin:	n/a
16	chr7:149554896-149554946	IMR90	lung:	fetal
17	chr7:149568525-149568575	PrEC	prostate:	n/a
18	chr7:149580879-149580929	RPTEC	kidney:	n/a
19	chr7:149570989-149571039	SK-N-MC	brain:	n/a
20	chr7:149554896-149554946	SK-N-SH_RA	brain:	n/a
21	chr7:149582572-149582622	SK-N-SH	brain:	n/a
22	chr7:149577256-149577306	K562	blood:	n/a
23	chr7:149554896-149554946	HUVEC	blood vessel:	n/a
24	chr7:149580879-149580929	CMK	blood:	n/a
25	chr7:149569987-149570037	HCT-116	colon:	n/a
26	chr7:149570989-149571039	HEEpiC	esophagus:	n/a
27	chr7:149577256-149577306	A549	lung:	n/a
28	chr7:149570992-149571042	Caco-2	colon:	n/a
29	chr7:149571017-149571067	HRPEpiC	eye:	n/a
30	chr7:149568778-149568828	AG04449	skin:	fetal
31	chr7:149570128-149570178	GM06990	blood:	n/a
32	chr7:149570987-149571037	NHBE	bronchial:	n/a
33	chr7:149558544-149558594	HRPEpiC	eye:	n/a
34	chr7:149571017-149571067	HCT-116	colon:	n/a
35	chr7:149562623-149562673	NH-A	brain:	n/a
36	chr7:149570071-149570121	HAEpiC	amniotic membrane:	n/a
37	chr7:149559426-149559476	HCM	heart:	n/a
38	chr7:149577256-149577306	HCM	heart:	n/a
39	chr7:149570367-149570417	AG10803	skin:	n/a
40	chr7:149642580-149642630	NB4	blood:	n/a
41	chr7:149558336-149558386	SKMC	muscle:	n/a
42	chr7:149569946-149569996	GM19239	blood:	n/a
43	chr7:149571017-149571067	HIPEpiC	eye:	n/a
44	chr7:149578384-149578434	HAEpiC	amniotic membrane:	n/a
45	chr7:149570071-149570121	Jurkat	blood:	n/a
46	chr7:149571180-149571230	MCF10A-Er-Src	breast:	n/a
47	chr7:149568778-149568828	HMEC	breast:	n/a
48	chr7:149570989-149571039	HEK293	kidney:	embryo
49	chr7:149571146-149571196	HCT-116	colon:	n/a
50	chr7:149571982-149572032	HCM	heart:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:149534427..149538606-chr7:149567610..149571411,8	MCF-7	breast:
2	chr7:149580491..149582159-chr7:149582592..149584410,2	MCF-7	breast:
3	chr7:149552958..149556692-chr7:149569431..149572325,5	MCF-7	breast:
4	chr7:149561762..149564667-chr7:149569183..149572180,2	MCF-7	breast:
5	chr7:149550819..149554150-chr7:149555857..149558406,3	K562	blood:
6	chr7:149573433..149575641-chr7:149575781..149577952,2	K562	blood:
7	chr7:149549543..149551998-chr7:149562107..149563696,2	MCF-7	breast:
8	chr7:149534468..149539239-chr7:149549126..149555518,7	MCF-7	breast:
9	chr7:149570793..149573386-chr7:149577095..149580560,3	K562	blood:
10	chr7:149551273..149553341-chr7:149558482..149560143,2	K562	blood:
11	chr7:149320936..149323357-chr7:149569430..149571790,2	K562	blood:
12	chr7:149501055..149503338-chr7:149561332..149564151,2	MCF-7	breast:
13	chr11:61559545..61560110-chr7:149559085..149559690,2	NB4	blood:
14	chr7:149470006..149471576-chr7:149569800..149572611,2	MCF-7	breast:
15	chr7:149534869..149537140-chr7:149569608..149571872,2	MCF-7	breast:
16	chr7:149580491..149582159-chr7:149582592..149584410,2	MCF-7	breast:
17	chr7:149569895..149574234-chr7:149575186..149579607,5	K562	blood:
18	chr7:149484191..149484692-chr7:149580431..149580931,2	K562	blood:
19	chr7:149570954..149573807-chr7:150065336..150068583,3	MCF-7	breast:
20	chr17:7742656..7744593-chr7:149569893..149571765,2	MCF-7	breast:
21	chr7:149580322..149580844-chr7:149745955..149746566,2	MCF-7	breast:
22	chr7:149570793..149573386-chr7:149577095..149580560,3	K562	blood:
23	chr7:149545860..149548603-chr7:149560677..149562213,2	MCF-7	breast:
24	chr7:149570115..149571658-chr7:149574660..149576811,2	MCF-7	breast:
25	chr7:149545678..149549284-chr7:149555199..149560671,5	K562	blood:
26	chr7:149541998..149544901-chr7:149565491..149567643,2	MCF-7	breast:
27	chr7:149561896..149564706-chr7:149568478..149571316,3	MCF-7	breast:
28	chr7:149555292..149556813-chr7:149559703..149561551,2	K562	blood:
29	chr7:149565876..149568768-chr7:149569299..149572526,4	MCF-7	breast:
30	chr7:149558310..149561559-chr7:149563222..149566237,4	K562	blood:
31	chr7:149639335..149639849-chr7:153850966..153851836,2	MCF-7	breast:
32	chr7:149543572..149545726-chr7:149561938..149563805,2	K562	blood:
33	chr7:149569895..149574234-chr7:149575186..149579607,5	K562	blood:
34	chr7:149555292..149556813-chr7:149559703..149561551,2	K562	blood:
35	chr7:149543499..149545502-chr7:149558401..149560374,2	K562	blood:
36	chr7:149555428..149558487-chr7:149568552..149571463,3	K562	blood:
37	chr7:149535200..149537036-chr7:149565230..149566898,2	MCF-7	breast:
38	chr7:149561961..149563986-chr7:149564206..149566986,2	MCF-7	breast:
39	chr7:149479026..149480915-chr7:149553686..149555419,2	MCF-7	breast:
40	chr7:149552958..149556692-chr7:149569431..149572325,5	MCF-7	breast:
41	chr7:149561961..149563986-chr7:149564206..149566986,2	MCF-7	breast:
42	chr7:149559447..149562113-chr7:149563589..149565249,2	MCF-7	breast:
43	chr7:149570103..149572096-chr7:150064199..150066897,3	MCF-7	breast:

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V0E2-3	chr7:149578553-149579199	NONHSAT124082
2	lnc-ZNF862-2	chr7:149571893-149572024	NONHSAT124078
3	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
4	lnc-ZNF467-1	chr7:149564861-149566947	ENSG00000204934
5	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
6	lnc-ZNF862-2	chr7:149571077-149571258	NONHSAT124076
7	lnc-ZNF467-1	chr7:149578448-149578669	ENSG00000273293.1
8	lnc-ZNF467-1	chr7:149567331-149567440	ENSG00000204934
9	lnc-ZNF467-1	chr7:149568731-149568885	NONHSAT124073
10	lnc-ATP6V0E2-4	chr7:149587828-149588505	ENSG00000273011.1
11	lnc-ZNF467-1	chr7:149577458-149577699	ENSG00000204934
12	lnc-ATP6V0E2-5	chr7:149556511-149556615	NONHSAT124070
13	lnc-ZNF862-2	chr7:149572688-149572734	NONHSAT124076
14	lnc-ZNF467-1	chr7:149570313-149570931	ENSG00000204934
15	lnc-ZNF862-2	chr7:149572687-149572734	NONHSAT124078
16	lnc-ZNF467-1	chr7:149567387-149567440	ENSG00000204934
17	lnc-ZNF467-1	chr7:149567331-149567440	NONHSAT124073
18	lnc-ZNF467-1	chr7:149570313-149570934	ENSG00000204934
19	lnc-ZNF862-2	chr7:149575767-149575879	NONHSAT124078
20	lnc-ZNF862-2	chr7:149576424-149576631	NONHSAT124078
21	lnc-ZNF467-1	chr7:149570313-149570951	NONHSAT124073
22	lnc-ATP6V0E2-7	chr7:149670980-149671663	l_3505_chr7:149670979-149676122_ovary
23	lnc-ZNF467-3	chr7:149607852-149608064	expReg_chr7_11327_-
24	lnc-ZNF467-1	chr7:149564786-149566947	ENSG00000204934
25	lnc-ATP6V0E2-5	chr7:149557472-149557539	NONHSAT124070
26	lnc-ZNF862-2	chr7:149576425-149576454	NONHSAT124076
27	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
28	lnc-ZNF467-1	chr7:149564783-149566947	NONHSAT124073

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF862	hsa-miR-335-5p	chr7:149562373-149562396

Variant related genes	Relation type
ENSG00000273293	TF binding region
ENSG00000224016	TF binding region
ATP6V0E2-AS1	TF binding region
ENSG00000273011	TF binding region
ATP6V0E2	TF binding region
ENSG00000273419	TF binding region
ENSG00000273293	CpG island
ENSG00000224016	CpG island
ATP6V0E2-AS1	CpG island
ENSG00000273011	CpG island
ATP6V0E2	CpG island
ENSG00000273419	CpG island
ENSG00000204934	chromatin interactions
ENSG00000171130	chromatin interactions
ENSG00000273419	chromatin interactions
ENSG00000133624	chromatin interactions
ENSG00000106479	chromatin interactions
ENSG00000168496	chromatin interactions
ENSG00000214022	chromatin interactions
ENSG00000273293	chromatin interactions
ENSG00000132510	chromatin interactions
ENSG00000197558	chromatin interactions
ENSG00000207601	chromatin interactions
ENSG00000196456	chromatin interactions
ENSG00000181444	chromatin interactions
ENSG00000134825	chromatin interactions
UBE2W	miRNA target sites
TAF5	miRNA target sites
RNF219	miRNA target sites
SLC26A4	miRNA target sites
CCDC47	miRNA target sites
HAUS8	miRNA target sites
PRR5L	miRNA target sites
SMARCC1	miRNA target sites
MYO9A	miRNA target sites
HMGA2	miRNA target sites

Extended variants
information (count: 2779 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2779 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7783965	chr7:149553819-149553820	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs553411136	chr7:149553868-149553869	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs573394109	chr7:149553881-149553882	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs186432114	chr7:149553916-149553917	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs565462901	chr7:149553927-149553928	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs575486483	chr7:149553938-149553939	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs190253915	chr7:149553941-149553942	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs75227167	chr7:149553942-149553943	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs182771314	chr7:149553946-149553947	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs185960475	chr7:149553948-149553949	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs190725962	chr7:149554063-149554064	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs560157624	chr7:149554068-149554069	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs375296397	chr7:149554131-149554132	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs147768210	chr7:149554149-149554150	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs552299492	chr7:149554215-149554216	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs569180677	chr7:149554223-149554224	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs531680246	chr7:149554227-149554228	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs530774804	chr7:149554360-149554361	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs567693731	chr7:149554365-149554366	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs549671170	chr7:149554369-149554370	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs116977329	chr7:149554467-149554468	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs538058791	chr7:149554472-149554473	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs553207665	chr7:149554482-149554483	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs543373308	chr7:149554486-149554487	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs184011739	chr7:149554491-149554492	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs557700983	chr7:149554510-149554511	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs75169569	chr7:149554594-149554595	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs188951104	chr7:149554647-149554648	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs77726682	chr7:149554687-149554688	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs112774947	chr7:149554696-149554697	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs544532646	chr7:149554700-149554701	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs182705898	chr7:149554703-149554704	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs574108700	chr7:149554704-149554705	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs540195475	chr7:149554721-149554722	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs187041228	chr7:149554739-149554740	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs553719880	chr7:149554752-149554753	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs532189572	chr7:149554851-149554852	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs76898198	chr7:149554897-149554898	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs562722228	chr7:149554918-149554919	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs145080648	chr7:149554948-149554949	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs548538772	chr7:149554960-149554961	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs568329170	chr7:149554977-149554978	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs530063732	chr7:149554979-149554980	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs563904249	chr7:149554985-149554986	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs546928232	chr7:149555007-149555008	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs79054195	chr7:149555063-149555064	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs191848516	chr7:149555096-149555097	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs58217252	chr7:149555126-149555127	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569142905	chr7:149555130-149555131	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs370275640	chr7:149555131-149555132	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1670 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149536400-149556400	Weak transcription	Colonic Mucosa	Colon
2	chr7:149536800-149556400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:149537000-149556800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:149540000-149569600	Weak transcription	Psoas Muscle	Psoas
5	chr7:149542600-149561800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:149543000-149569600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:149544800-149554800	Weak transcription	Primary B cells from cord blood	blood
8	chr7:149545600-149557400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:149545800-149555600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr7:149545800-149556400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:149547400-149556200	Weak transcription	Esophagus	oesophagus
12	chr7:149550400-149554800	Weak transcription	Placenta	Placenta
13	chr7:149550400-149556400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:149550400-149556400	Weak transcription	Lung	lung
15	chr7:149550400-149556400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr7:149550600-149556400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:149550600-149556600	Weak transcription	Ovary	ovary
18	chr7:149550800-149554600	Enhancers	Fetal Thymus	thymus
19	chr7:149551200-149554000	Enhancers	Fetal Heart	heart
20	chr7:149551200-149555000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:149551200-149555200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr7:149551200-149555800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr7:149551400-149555000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:149551400-149555000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr7:149551400-149555200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:149551600-149554000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr7:149551600-149554000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:149551600-149554600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:149551600-149555200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr7:149551600-149555200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:149552200-149555200	Weak transcription	Brain Substantia Nigra	brain
32	chr7:149552200-149555200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:149552200-149556400	Weak transcription	Adipose Nuclei	Adipose
34	chr7:149552200-149556400	Weak transcription	Liver	Liver
35	chr7:149552200-149556400	Weak transcription	Brain Angular Gyrus	brain
36	chr7:149552200-149556400	Weak transcription	Fetal Intestine Large	intestine
37	chr7:149552200-149556400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:149552200-149556600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:149552200-149569400	Weak transcription	Fetal Kidney	kidney
40	chr7:149552400-149555000	Enhancers	Dnd41	blood
41	chr7:149552400-149555800	Weak transcription	Fetal Intestine Small	intestine
42	chr7:149552400-149556800	Weak transcription	Fetal Brain Male	brain
43	chr7:149552600-149555600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:149552600-149556600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:149552600-149556600	Weak transcription	Fetal Brain Female	brain
46	chr7:149552800-149556200	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:149552800-149556400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:149552800-149556400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:149552800-149556400	Weak transcription	Brain Germinal Matrix	brain
50	chr7:149552800-149561400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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