Variant report

Variant	nsv873428
Chromosome Location	chr1:247226986-247346189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3158)
CpG islands
(count:3663)
Chromatin interactive
region (count:163)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3158 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:247267417-247267921	K562	blood:	n/a	n/a
2	ARID3A	chr1:247242014-247243373	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:247273976-247274367	K562	blood:	n/a	n/a
4	ARID3A	chr1:247267404-247267907	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:247241170-247241413	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:247242997-247243065	K562	blood:	n/a	n/a
7	ARID3A	chr1:247275900-247276723	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:247242038-247242372	K562	blood:	n/a	n/a
9	ARID3A	chr1:247241627-247241651	K562	blood:	n/a	n/a
10	ARID3A	chr1:247339076-247339083	K562	blood:	n/a	n/a
11	ATF1	chr1:247241868-247242321	K562	blood:	n/a	n/a
12	ATF1	chr1:247242724-247243071	K562	blood:	n/a	n/a
13	ATF1	chr1:247273899-247274258	K562	blood:	n/a	n/a
14	ATF1	chr1:247267511-247268008	K562	blood:	n/a	n/a
15	ATF2	chr1:247241843-247242231	GM12878	blood:	n/a	n/a
16	ATF2	chr1:247267585-247267988	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr1:247282166-247282519	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr1:247282209-247282493	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr1:247267382-247268056	GM12878	blood:	n/a	n/a
20	ATF2	chr1:247267427-247267955	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr1:247241631-247242395	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr1:247267382-247268020	GM12878	blood:	n/a	n/a
23	ATF3	chr1:247267466-247267904	K562	blood:	n/a	chr1:247267801-247267810
24	ATF3	chr1:247267535-247268243	K562	blood:	n/a	chr1:247267801-247267810
25	BACH1	chr1:247241779-247242130	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr1:247275291-247275489	K562	blood:	n/a	n/a
27	BACH1	chr1:247274741-247274742	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr1:247267023-247267207	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr1:247275257-247275476	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr1:247274377-247274386	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr1:247276594-247276742	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr1:247289652-247289887	GM12878	blood:	n/a	n/a
33	BCL11A	chr1:247335047-247335451	GM12878	blood:	n/a	chr1:247335373-247335386 chr1:247335441-247335449
34	BCL11A	chr1:247334609-247334825	GM12878	blood:	n/a	n/a
35	BCL11A	chr1:247289560-247289964	GM12878	blood:	n/a	chr1:247289597-247289605 chr1:247289660-247289673 chr1:247289814-247289827
36	BCL11A	chr1:247290186-247290402	GM12878	blood:	n/a	n/a
37	BCL11A	chr1:247335151-247335398	GM12878	blood:	n/a	chr1:247335373-247335386
38	BCL11A	chr1:247289613-247289860	GM12878	blood:	n/a	chr1:247289660-247289673 chr1:247289814-247289827
39	BCL3	chr1:247319363-247319819	K562	blood:	n/a	n/a
40	BCL3	chr1:247261368-247261564	GM12878	blood:	n/a	n/a
41	BCLAF1	chr1:247267240-247268003	GM12878	blood:	n/a	n/a
42	BCLAF1	chr1:247267171-247267901	GM12878	blood:	n/a	n/a
43	BCLAF1	chr1:247241877-247242360	GM12878	blood:	n/a	chr1:247242284-247242293
44	BCLAF1	chr1:247273936-247274355	K562	blood:	n/a	n/a
45	BHLHE40	chr1:247267601-247268041	A549	lung:	n/a	chr1:247267799-247267812
46	BHLHE40	chr1:247241538-247242371	K562	blood:	n/a	n/a
47	BHLHE40	chr1:247242864-247243206	HepG2	liver:	n/a	n/a
48	BHLHE40	chr1:247241685-247242389	GM12878	blood:	n/a	n/a
49	BHLHE40	chr1:247267607-247268011	HepG2	liver:	n/a	chr1:247267799-247267812
50	BHLHE40	chr1:247289249-247289254	GM12878	blood:	n/a	n/a

(count:3663 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247267873-247267923	HRCEpiC	kidney:	n/a
2	chr1:247282458-247282508	AG04449	skin:	fetal
3	chr1:247271246-247271296	HCPEpiC	choroid plexus:	n/a
4	chr1:247267873-247267923	HRCEpiC	kidney:	n/a
5	chr1:247282458-247282508	AG04449	skin:	fetal
6	chr1:247271246-247271296	HCPEpiC	choroid plexus:	n/a
7	chr1:247275542-247275592	Caco-2	colon:	n/a
8	chr1:247275808-247275858	SAEC	small airway:	n/a
9	chr1:247268238-247268288	MCF-7	breast:	n/a
10	chr1:247274370-247274420	HMEC	breast:	n/a
11	chr1:247276552-247276602	ovcar-3	ovarian:	n/a
12	chr1:247267708-247267758	HL-60	blood:	n/a
13	chr1:247267065-247267115	BE2_C	brain:	n/a
14	chr1:247270143-247270193	ProgFib	skin:	n/a
15	chr1:247241693-247241743	HMEC	breast:	n/a
16	chr1:247241693-247241743	LNCaP	prostate:	n/a
17	chr1:247267873-247267923	HepG2	liver:	n/a
18	chr1:247241940-247241990	HL-60	blood:	n/a
19	chr1:247275542-247275592	AG04450	lung:	fetal
20	chr1:247275998-247276048	ECC-1	luminal epithelium:	n/a
21	chr1:247242975-247243025	HepG2	liver:	n/a
22	chr1:247276966-247277016	GM12892	blood:	n/a
23	chr1:247268238-247268288	AG09319	gingival:	n/a
24	chr1:247276552-247276602	Hepatocyte	liver:	n/a
25	chr1:247331870-247331920	MCF-7	breast:	n/a
26	chr1:247242043-247242093	GM06990	blood:	n/a
27	chr1:247278828-247278878	HCF	heart:	n/a
28	chr1:247275735-247275785	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:247253815-247253865	SAEC	small airway:	n/a
30	chr1:247275489-247275539	MCF-7	breast:	n/a
31	chr1:247242130-247242180	MCF-7	breast:	n/a
32	chr1:247241693-247241743	PFSK-1	brain:	n/a
33	chr1:247276647-247276697	HIPEpiC	eye:	n/a
34	chr1:247241693-247241743	AG09309	skin:	n/a
35	chr1:247279205-247279255	Caco-2	colon:	n/a
36	chr1:247269490-247269540	GM06990	blood:	n/a
37	chr1:247268441-247268491	NHDF-neo	bronchial:	n/a
38	chr1:247267708-247267758	ECC-1	luminal epithelium:	n/a
39	chr1:247242273-247242323	PANC-1	pancreas:	n/a
40	chr1:247276647-247276697	LNCaP	prostate:	n/a
41	chr1:247275469-247275519	HepG2	liver:	n/a
42	chr1:247267325-247267375	Hela-S3	cervix:	n/a
43	chr1:247242539-247242589	HIPEpiC	eye:	n/a
44	chr1:247242157-247242207	HCPEpiC	choroid plexus:	n/a
45	chr1:247242130-247242180	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:247335702-247335752	HCM	heart:	n/a
47	chr1:247242157-247242207	GM12892	blood:	n/a
48	chr1:247242539-247242589	AG10803	skin:	n/a
49	chr1:247242975-247243025	PFSK-1	brain:	n/a
50	chr1:247274709-247274759	HEEpiC	esophagus:	n/a

(count:163 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:247249215..247251294-chr1:247266275..247268905,2	MCF-7	breast:
2	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:
3	chr1:247240460..247242101-chr1:247251496..247253766,2	K562	blood:
4	chr1:247240434..247242888-chr1:247264757..247270232,6	K562	blood:
5	chr1:247093523..247095310-chr1:247269545..247271288,2	MCF-7	breast:
6	chr1:247227561..247229159-chr1:247231241..247233121,2	K562	blood:
7	chr1:247320315..247323236-chr1:247326105..247328413,3	K562	blood:
8	chr1:247263178..247265761-chr1:247266072..247268985,2	MCF-7	breast:
9	chr1:247253924..247257124-chr1:247257562..247261761,7	K562	blood:
10	chr1:247291043..247292946-chr1:247332755..247334621,3	MCF-7	breast:
11	chr1:247249794..247251374-chr1:247261131..247263722,2	K562	blood:
12	chr1:247266331..247268556-chr1:247313652..247315861,2	MCF-7	breast:
13	chr1:247256992..247261249-chr1:247272069..247275489,5	K562	blood:
14	chr1:247317106..247320597-chr1:247321914..247325025,4	K562	blood:
15	chr1:247249215..247251294-chr1:247266275..247268905,2	MCF-7	breast:
16	chr1:247237656..247243483-chr1:247491762..247497969,8	K562	blood:
17	chr1:247339304..247343861-chr1:247346826..247352020,6	K562	blood:
18	chr1:247240160..247243836-chr1:247246950..247251614,4	K562	blood:
19	chr1:247273239..247275061-chr1:247277041..247280302,3	K562	blood:
20	chr1:247258817..247262425-chr1:247262948..247268807,7	MCF-7	breast:
21	chr1:247225416..247227958-chr1:247241143..247243199,2	MCF-7	breast:
22	chr1:11969297..11969806-chr1:247316561..247317282,2	HCT-116	colon:
23	chr1:247332690..247334422-chr1:247334542..247337512,2	MCF-7	breast:
24	chr1:247329640..247332226-chr1:247336711..247339564,2	K562	blood:
25	chr1:247240434..247242888-chr1:247264757..247270232,6	K562	blood:
26	chr1:247303971..247305642-chr1:247323338..247325925,2	K562	blood:
27	chr1:247291043..247292946-chr1:247332755..247334621,3	MCF-7	breast:
28	chr1:247289580..247291356-chr1:247334098..247335622,2	MCF-7	breast:
29	chr1:247236042..247238737-chr1:247239896..247242887,6	K562	blood:
30	chr1:247093657..247095310-chr1:247336196..247337981,2	K562	blood:
31	chr1:247293627..247296153-chr1:247297059..247298639,2	MCF-7	breast:
32	chr1:247341025..247343921-chr1:247358024..247360237,2	K562	blood:
33	chr1:247261271..247263933-chr1:247276366..247278097,2	K562	blood:
34	chr1:247248390..247250817-chr1:247252718..247255600,2	MCF-7	breast:
35	chr1:247253924..247257124-chr1:247257562..247261761,7	K562	blood:
36	chr1:247334201..247339672-chr1:247340521..247343576,5	K562	blood:
37	chr1:247340250..247344678-chr1:247346787..247348448,4	K562	blood:
38	chr1:247304460..247307892-chr1:247308798..247311379,4	K562	blood:
39	chr1:247241483..247244418-chr1:247273727..247276454,2	MCF-7	breast:
40	chr1:247291341..247292905-chr1:247330458..247334056,3	K562	blood:
41	chr1:247169673..247172319-chr1:247241987..247243991,2	K562	blood:
42	chr1:247237667..247239440-chr1:247265845..247267798,2	K562	blood:
43	chr1:247094086..247096067-chr1:247294057..247295936,2	MCF-7	breast:
44	chr1:247249938..247251976-chr1:247256822..247258390,2	K562	blood:
45	chr1:247241483..247244418-chr1:247273727..247276454,2	MCF-7	breast:
46	chr1:247265005..247267763-chr1:247269479..247271293,2	MCF-7	breast:
47	chr1:247229715..247234769-chr1:247235903..247241738,8	K562	blood:
48	chr1:247240083..247242653-chr1:247328788..247331096,2	K562	blood:
49	chr1:247249794..247251374-chr1:247261131..247263722,2	K562	blood:
50	chr1:235491700..235492561-chr1:247241273..247241886,2	Hela-S3	cervix:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP3-6	chr1:247338558-247338827	NONHSAT010760
2	lnc-NLRP3-8	chr1:247335968-247336278	NONHSAT010756
3	lnc-NLRP3-5	chr1:247341434-247343515	NONHSAT010761
4	lnc-NLRP3-7	chr1:247336346-247336681	NONHSAT010757
5	lnc-ZNF670-1	chr1:247249110-247249369	NONHSAT010749
6	lnc-NLRP3-7	chr1:247336678-247337751	NONHSAT010758
7	lnc-NLRP3-9	chr1:247282971-247283580	NONHSAT010752
8	lnc-ZNF124-3	chr1:247338766-247338870	NONHSAT010759
9	lnc-ZNF670-1	chr1:247248691-247248751	NONHSAT010749
10	lnc-C1orf229-2	chr1:247303567-247304646	NONHSAT010755
11	lnc-C1orf229-2	chr1:247313160-247313252	NONHSAT010753
12	lnc-AHCTF1-3	chr1:247241896-247242115	NR_037894
13	lnc-ZNF124-3	chr1:247337904-247338553	NONHSAT010759
14	lnc-C1orf229-2	chr1:247285278-247287173	NONHSAT010753
15	lnc-C1orf229-2	chr1:247302018-247302059	NONHSAT010753
16	lnc-C1orf229-1	chr1:247271325-247272007	NONHSAT010751
17	lnc-C1orf229-2	chr1:247313160-247313271	NONHSAT010755
18	lnc-C1orf229-1	chr1:247272989-247273290	NONHSAT010751

No data

Variant related genes	Relation type
ZNF669	TF binding region
FGFR3P6	TF binding region
ENSG00000224014	TF binding region
ZNF124	TF binding region
ENSG00000228982	TF binding region
C1orf229	TF binding region
ZNF670	TF binding region
ZNF669	CpG island
FGFR3P6	CpG island
ENSG00000224014	CpG island
ZNF124	CpG island
ENSG00000228982	CpG island
C1orf229	CpG island
ZNF670	CpG island
ENSG00000118640	chromatin interactions
ENSG00000188295	chromatin interactions
ENSG00000152904	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000259865	chromatin interactions
ENSG00000263568	chromatin interactions
ENSG00000197472	chromatin interactions
ENSG00000197617	chromatin interactions
ENSG00000105771	chromatin interactions
ENSG00000170852	chromatin interactions
ENSG00000228982	chromatin interactions
ENSG00000224014	chromatin interactions
ENSG00000227671	chromatin interactions
ENSG00000162714	chromatin interactions
ENSG00000196418	chromatin interactions
ENSG00000221953	chromatin interactions
ENSG00000215795	chromatin interactions
ENSG00000135747	chromatin interactions

Extended variants
information (count: 5159 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:5159 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7542852	chr1:247226986-247226987	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376915965	chr1:247226989-247226990	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7528817	chr1:247226994-247226995	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34764574	chr1:247227025-247227026	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs147398342	chr1:247227053-247227054	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200546750	chr1:247227071-247227072	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545431615	chr1:247227100-247227101	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544501796	chr1:247227120-247227121	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561132019	chr1:247227121-247227122	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182015261	chr1:247227128-247227129	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139633211	chr1:247227143-247227144	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186306717	chr1:247227145-247227146	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12060791	chr1:247227185-247227186	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551784352	chr1:247227192-247227193	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568498053	chr1:247227194-247227195	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144733702	chr1:247227209-247227210	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550886275	chr1:247227244-247227245	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs151262837	chr1:247227250-247227251	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536454771	chr1:247227323-247227324	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553521099	chr1:247227379-247227380	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112850341	chr1:247227381-247227382	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573300669	chr1:247227423-247227424	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74155753	chr1:247227454-247227455	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559025507	chr1:247227467-247227468	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs77543152	chr1:247227475-247227476	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190325700	chr1:247227537-247227538	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1007457	chr1:247227539-247227540	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181616980	chr1:247227625-247227626	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540101946	chr1:247227679-247227680	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114881614	chr1:247227718-247227719	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113386072	chr1:247227734-247227735	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551872735	chr1:247227741-247227742	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562219350	chr1:247227774-247227775	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531211674	chr1:247227788-247227789	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547744522	chr1:247227797-247227798	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7553547	chr1:247227801-247227802	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530415578	chr1:247227812-247227813	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571929875	chr1:247227813-247227814	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs57498207	chr1:247227819-247227820	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs145426362	chr1:247227829-247227830	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141406505	chr1:247227850-247227851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533137546	chr1:247227880-247227881	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145147651	chr1:247227954-247227955	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538250699	chr1:247227975-247227976	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114965978	chr1:247227992-247227993	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574673441	chr1:247228001-247228002	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146852662	chr1:247228031-247228032	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12082697	chr1:247228035-247228036	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553748885	chr1:247228077-247228078	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs57262722	chr1:247228094-247228095	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
abnormal development	18461090	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3320 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247218600-247240600	Weak transcription	HSMMtube	muscle
2	chr1:247218800-247227200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:247218800-247227200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:247219000-247240400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:247219600-247240600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:247221000-247227000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:247223200-247230400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:247224800-247229600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr1:247225800-247227600	ZNF genes & repeats	Fetal Stomach	stomach
10	chr1:247225800-247228400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:247225800-247228800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:247225800-247229800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:247226000-247227000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:247226000-247227000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:247226000-247227200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:247226000-247228000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr1:247226000-247229800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr1:247226200-247232000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:247226600-247227400	Weak transcription	Primary T cells from cord blood	blood
20	chr1:247226600-247229600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:247226800-247227000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:247226800-247228000	ZNF genes & repeats	Fetal Brain Female	brain
23	chr1:247227000-247227200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr1:247227000-247227400	ZNF genes & repeats	Thymus	Thymus
25	chr1:247227000-247227600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:247227000-247227600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:247227000-247227600	ZNF genes & repeats	Fetal Lung	lung
28	chr1:247227000-247227600	ZNF genes & repeats	Pancreas	Pancrea
29	chr1:247227000-247227600	ZNF genes & repeats	Spleen	Spleen
30	chr1:247227000-247227800	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr1:247227000-247228000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:247227000-247228000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:247227000-247228000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:247227000-247228000	ZNF genes & repeats	Aorta	Aorta
35	chr1:247227000-247228000	ZNF genes & repeats	Lung	lung
36	chr1:247227000-247228200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:247227200-247227600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr1:247227200-247227800	ZNF genes & repeats	Liver	Liver
39	chr1:247227200-247227800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
40	chr1:247227200-247227800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
41	chr1:247227200-247228000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:247227200-247228000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:247227200-247228000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:247227200-247228000	Enhancers	Right Ventricle	heart
45	chr1:247227200-247228400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:247227200-247228800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:247227200-247229800	Enhancers	HepG2	liver
48	chr1:247227400-247227600	ZNF genes & repeats	K562	blood
49	chr1:247227400-247228000	ZNF genes & repeats	Primary T cells from cord blood	blood
50	chr1:247227400-247228000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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