Variant report

Variant	nsv873432
Chromosome Location	chr1:247278707-247334323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1093)
CpG islands
(count:488)
Chromatin interactive
region (count:55)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1093 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:247282209-247282493	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr1:247282166-247282519	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr1:247289652-247289887	GM12878	blood:	n/a	n/a
4	BCL11A	chr1:247290186-247290402	GM12878	blood:	n/a	n/a
5	BCL11A	chr1:247289560-247289964	GM12878	blood:	n/a	chr1:247289597-247289605 chr1:247289660-247289673 chr1:247289814-247289827
6	BCL11A	chr1:247289613-247289860	GM12878	blood:	n/a	chr1:247289660-247289673 chr1:247289814-247289827
7	BCL3	chr1:247319363-247319819	K562	blood:	n/a	n/a
8	BHLHE40	chr1:247289249-247289254	GM12878	blood:	n/a	n/a
9	BHLHE40	chr1:247282190-247282604	HepG2	liver:	n/a	n/a
10	BHLHE40	chr1:247289527-247289878	HepG2	liver:	n/a	chr1:247289814-247289830 chr1:247289811-247289827
11	CBX3	chr1:247327882-247328286	HCT-116	colon:	n/a	n/a
12	CBX3	chr1:247327927-247328345	K562	blood:	n/a	n/a
13	CBX3	chr1:247289444-247289894	K562	blood:	n/a	n/a
14	CBX3	chr1:247319843-247320645	K562	blood:	n/a	n/a
15	CBX3	chr1:247279022-247279825	K562	blood:	n/a	n/a
16	CBX3	chr1:247303207-247303461	K562	blood:	n/a	n/a
17	CBX3	chr1:247303822-247304172	K562	blood:	n/a	n/a
18	CBX3	chr1:247280516-247280801	K562	blood:	n/a	n/a
19	CBX3	chr1:247279956-247280480	K562	blood:	n/a	n/a
20	CBX3	chr1:247302741-247303171	K562	blood:	n/a	n/a
21	CBX3	chr1:247280963-247282452	K562	blood:	n/a	n/a
22	CBX3	chr1:247328021-247328352	K562	blood:	n/a	n/a
23	CBX3	chr1:247278814-247282541	K562	blood:	n/a	n/a
24	CBX3	chr1:247319443-247320805	K562	blood:	n/a	n/a
25	CBX3	chr1:247290086-247290284	K562	blood:	n/a	n/a
26	CCNT2	chr1:247288386-247288451	K562	blood:	n/a	n/a
27	CCNT2	chr1:247305013-247305271	K562	blood:	n/a	n/a
28	CEBPB	chr1:247288527-247288747	HepG2	liver:	n/a	chr1:247288661-247288672
29	CEBPB	chr1:247288518-247288799	K562	blood:	n/a	chr1:247288661-247288672
30	CEBPB	chr1:247288526-247288840	H1-hESC	embryonic stem cell:	n/a	chr1:247288661-247288672
31	CEBPD	chr1:247289599-247289921	K562	blood:	n/a	n/a
32	CEBPD	chr1:247290667-247291211	K562	blood:	n/a	n/a
33	CHD2	chr1:247285987-247286131	K562	blood:	n/a	n/a
34	CHD2	chr1:247282281-247282544	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:247282235-247282392	SK-N-SH_RA	brain:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
36	CTCF	chr1:247282380-247282530	GM12865	blood:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
37	CTCF	chr1:247309940-247310090	NHEK	skin:	n/a	n/a
38	CTCF	chr1:247282266-247282358	GM19239	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
39	CTCF	chr1:247296480-247296630	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr1:247310040-247310190	HMF	breast:	n/a	n/a
41	CTCF	chr1:247310100-247310250	K562	blood:	n/a	n/a
42	CTCF	chr1:247282300-247282450	GM12867	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
43	CTCF	chr1:247310039-247310354	K562	blood:	n/a	n/a
44	CTCF	chr1:247282275-247282525	GM19240	blood:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
45	CTCF	chr1:247282133-247282562	K562	blood:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
46	CTCF	chr1:247282300-247282450	K562	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
47	CTCF	chr1:247282300-247282450	GM12875	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
48	CTCF	chr1:247282280-247282430	GM12875	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
49	CTCF	chr1:247282275-247282492	Gliobla	brain:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
50	CTCF	chr1:247282367-247282448	MCF-7	breast:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247282458-247282508	HMEC	breast:	n/a
2	chr1:247282458-247282508	LNCaP	prostate:	n/a
3	chr1:247279205-247279255	RPTEC	kidney:	n/a
4	chr1:247314923-247314973	HCT-116	colon:	n/a
5	chr1:247333735-247333785	Hela-S3	cervix:	n/a
6	chr1:247331870-247331920	PrEC	prostate:	n/a
7	chr1:247282458-247282508	HEK293	kidney:	embryo
8	chr1:247314923-247314973	HL-60	blood:	n/a
9	chr1:247278828-247278878	AG10803	skin:	n/a
10	chr1:247333735-247333785	HEK293	kidney:	embryo
11	chr1:247291374-247291424	PANC-1	pancreas:	n/a
12	chr1:247282458-247282508	BJ	skin:	n/a
13	chr1:247291374-247291424	PFSK-1	brain:	n/a
14	chr1:247279205-247279255	NHBE	bronchial:	n/a
15	chr1:247279205-247279255	BE2_C	brain:	n/a
16	chr1:247278828-247278878	H1-hESC	embryonic stem cell:	embryo
17	chr1:247333735-247333785	A549	lung:	n/a
18	chr1:247285935-247285985	Caco-2	colon:	n/a
19	chr1:247314923-247314973	GM12878	blood:	n/a
20	chr1:247285935-247285985	AoSMC	blood vessel:	n/a
21	chr1:247278828-247278878	GM12891	blood:	n/a
22	chr1:247314923-247314973	GM06990	blood:	n/a
23	chr1:247291374-247291424	Hepatocyte	liver:	n/a
24	chr1:247331870-247331920	ovcar-3	ovarian:	n/a
25	chr1:247333735-247333785	HRE	kidney:	n/a
26	chr1:247333735-247333785	GM12891	blood:	n/a
27	chr1:247333735-247333785	K562	blood:	n/a
28	chr1:247314923-247314973	BJ	skin:	n/a
29	chr1:247282458-247282508	HAEpiC	amniotic membrane:	n/a
30	chr1:247285935-247285985	K562	blood:	n/a
31	chr1:247331870-247331920	A549	lung:	n/a
32	chr1:247278828-247278878	HL-60	blood:	n/a
33	chr1:247279205-247279255	ECC-1	luminal epithelium:	n/a
34	chr1:247278828-247278878	HepG2	liver:	n/a
35	chr1:247282458-247282508	NT2-D1	testis:	n/a
36	chr1:247331870-247331920	SK-N-MC	brain:	n/a
37	chr1:247333735-247333785	SKMC	muscle:	n/a
38	chr1:247291374-247291424	HIPEpiC	eye:	n/a
39	chr1:247285935-247285985	HNPCEpiC	eye:	n/a
40	chr1:247314923-247314973	ProgFib	skin:	n/a
41	chr1:247314923-247314973	A549	lung:	n/a
42	chr1:247291374-247291424	HEK293	kidney:	embryo
43	chr1:247285935-247285985	HRPEpiC	eye:	n/a
44	chr1:247291374-247291424	ovcar-3	ovarian:	n/a
45	chr1:247285935-247285985	CMK	blood:	n/a
46	chr1:247285935-247285985	SK-N-MC	brain:	n/a
47	chr1:247331870-247331920	GM06990	blood:	n/a
48	chr1:247279205-247279255	NHDF-neo	bronchial:	n/a
49	chr1:247291374-247291424	GM06990	blood:	n/a
50	chr1:247278828-247278878	HPAEpiC	pulmonary alveolar:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:
2	chr1:247320315..247323236-chr1:247326105..247328413,3	K562	blood:
3	chr1:247094086..247096067-chr1:247294057..247295936,2	MCF-7	breast:
4	chr1:247274378..247276351-chr1:247330051..247331946,2	MCF-7	breast:
5	chr1:247289906..247291409-chr1:247327499..247329050,2	K562	blood:
6	chr1:247317106..247320597-chr1:247321914..247325025,4	K562	blood:
7	chr1:247291043..247292946-chr1:247332755..247334621,3	MCF-7	breast:
8	chr1:247291385..247292961-chr1:247332715..247334283,2	MCF-7	breast:
9	chr1:247289823..247292787-chr1:247327556..247329184,2	K562	blood:
10	chr1:247313944..247315483-chr1:247320044..247321631,2	MCF-7	breast:
11	chr1:247267372..247270234-chr1:247298107..247300511,2	MCF-7	breast:
12	chr1:247303809..247306920-chr1:247310014..247313822,3	MCF-7	breast:
13	chr1:247323516..247325758-chr1:247334255..247337594,3	K562	blood:
14	chr1:247265068..247267248-chr1:247305560..247307197,2	MCF-7	breast:
15	chr1:247329640..247332226-chr1:247336711..247339564,2	K562	blood:
16	chr1:247320315..247323236-chr1:247326105..247328413,3	K562	blood:
17	chr1:247332690..247334422-chr1:247334542..247337512,2	MCF-7	breast:
18	chr1:247291347..247292905-chr1:247330458..247332447,2	K562	blood:
19	chr1:247201957..247204442-chr1:247309257..247311874,2	K562	blood:
20	chr1:247332437..247334290-chr1:247492721..247495459,2	K562	blood:
21	chr1:247305778..247307279-chr20:47900377..47902023,2	K562	blood:
22	chr1:247240083..247242653-chr1:247328788..247331096,2	K562	blood:
23	chr1:247324217..247327180-chr1:247330405..247333669,3	K562	blood:
24	chr1:247293627..247296153-chr1:247297059..247298639,2	MCF-7	breast:
25	chr1:247274786..247276587-chr1:247277453..247279795,2	MCF-7	breast:
26	chr1:247313509..247316825-chr1:247321741..247324519,3	MCF-7	breast:
27	chr1:247291341..247292905-chr1:247330458..247334056,3	K562	blood:
28	chr1:247312926..247315544-chr1:247323490..247325492,2	K562	blood:
29	chr1:247324217..247327180-chr1:247330405..247333669,3	K562	blood:
30	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:
31	chr1:247289906..247291409-chr1:247327499..247329050,2	K562	blood:
32	chr1:247313944..247315483-chr1:247320044..247321631,2	MCF-7	breast:
33	chr1:247270781..247273183-chr1:247283776..247285390,2	MCF-7	breast:
34	chr1:247285727..247286228-chr3:81753505..81754005,2	NB4	blood:
35	chr1:247291043..247292946-chr1:247332755..247334621,3	MCF-7	breast:
36	chr1:247317106..247320597-chr1:247321914..247325025,4	K562	blood:
37	chr1:247304460..247307892-chr1:247308798..247311379,4	K562	blood:
38	chr1:247305865..247308781-chr1:247312082..247316125,4	K562	blood:
39	chr1:247266331..247268556-chr1:247313652..247315861,2	MCF-7	breast:
40	chr1:247262370..247270931-chr1:247272613..247278774,19	MCF-7	breast:
41	chr1:247291341..247292905-chr1:247330458..247334056,3	K562	blood:
42	chr1:247293627..247296153-chr1:247297059..247298639,2	MCF-7	breast:
43	chr1:247303971..247305642-chr1:247323338..247325925,2	K562	blood:
44	chr1:247303971..247305642-chr1:247323338..247325925,2	K562	blood:
45	chr1:247241666..247243646-chr1:247278123..247279948,2	K562	blood:
46	chr1:247291385..247292961-chr1:247332715..247334283,2	MCF-7	breast:
47	chr1:247265787..247267676-chr1:247322422..247325392,2	MCF-7	breast:
48	chr1:247273239..247275061-chr1:247277041..247280302,3	K562	blood:
49	chr1:247289580..247291356-chr1:247334098..247335622,2	MCF-7	breast:
50	chr1:247304460..247307892-chr1:247308798..247311379,4	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf229-2	chr1:247303567-247304646	NONHSAT010755
2	lnc-C1orf229-2	chr1:247313160-247313252	NONHSAT010753
3	lnc-C1orf229-2	chr1:247302018-247302059	NONHSAT010753
4	lnc-C1orf229-2	chr1:247285278-247287173	NONHSAT010753
5	lnc-NLRP3-9	chr1:247282971-247283580	NONHSAT010752
6	lnc-C1orf229-2	chr1:247313160-247313271	NONHSAT010755

No data

Variant related genes	Relation type
ENSG00000224014	TF binding region
ZNF124	TF binding region
C1orf229	TF binding region
FGFR3P6	TF binding region
ENSG00000224014	CpG island
ZNF124	CpG island
C1orf229	CpG island
FGFR3P6	CpG island
ENSG00000224014	chromatin interactions
ENSG00000221953	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000135747	chromatin interactions
ENSG00000162714	chromatin interactions
ENSG00000188295	chromatin interactions
ENSG00000196418	chromatin interactions

Extended variants
information (count: 2329 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:2329 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6664694	chr1:247278707-247278708	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
2	rs115320974	chr1:247278774-247278775	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs577635111	chr1:247278795-247278796	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs140296841	chr1:247278798-247278799	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546625116	chr1:247278818-247278819	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs145305431	chr1:247278828-247278829	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs74152933	chr1:247278860-247278861	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558805724	chr1:247278884-247278885	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs77841444	chr1:247278902-247278903	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs149455475	chr1:247278925-247278926	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs114820836	chr1:247278930-247278931	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs376969661	chr1:247278966-247278967	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs544981819	chr1:247278987-247278988	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs144181288	chr1:247279001-247279002	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs368366620	chr1:247279033-247279034	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs76170357	chr1:247279057-247279058	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs560215957	chr1:247279064-247279065	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs375971058	chr1:247279065-247279066	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs576901798	chr1:247279079-247279080	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs148267288	chr1:247279104-247279105	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs368925091	chr1:247279112-247279113	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs531065178	chr1:247279143-247279144	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs141318947	chr1:247279148-247279149	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs570859914	chr1:247279164-247279165	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs373781726	chr1:247279185-247279186	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs530163283	chr1:247279215-247279216	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs199749806	chr1:247279216-247279217	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs546686788	chr1:247279230-247279231	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs111798000	chr1:247279241-247279242	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs112810058	chr1:247279244-247279245	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs367663067	chr1:247279249-247279250	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs202040670	chr1:247279276-247279277	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs200533977	chr1:247279322-247279323	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs1192847	chr1:247279353-247279354	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs28461452	chr1:247279368-247279369	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs567304997	chr1:247279399-247279400	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs371720918	chr1:247279414-247279415	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs28561917	chr1:247279460-247279461	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs28378832	chr1:247279482-247279483	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs28571749	chr1:247279538-247279539	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs28489280	chr1:247279582-247279583	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs28606523	chr1:247279584-247279585	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs28612339	chr1:247279645-247279646	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs28705205	chr1:247279665-247279666	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs28507145	chr1:247279667-247279668	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs200139656	chr1:247279691-247279692	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs55815441	chr1:247279802-247279803	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs201706516	chr1:247279873-247279874	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs201274933	chr1:247279962-247279963	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs200698161	chr1:247280136-247280137	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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

Chromatin state (count:1237 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247275600-247279200	Flanking Active TSS	HepG2	liver
2	chr1:247276600-247284600	Weak transcription	Right Ventricle	heart
3	chr1:247276800-247278800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:247276800-247278800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:247276800-247283000	Weak transcription	Spleen	Spleen
6	chr1:247278600-247278800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:247278600-247278800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:247278800-247279000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:247278800-247279000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:247278800-247279200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:247279000-247279200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:247279000-247290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:247279200-247282400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:247282200-247282600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:247282200-247283600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:247282400-247283800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:247282600-247291000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:247283000-247283800	ZNF genes & repeats	Spleen	Spleen
19	chr1:247283400-247283600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:247283600-247283800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:247285400-247285600	Weak transcription	Right Ventricle	heart
22	chr1:247286400-247290800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:247286600-247288200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:247287000-247291000	Weak transcription	Hela-S3	cervix
25	chr1:247288000-247291000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:247288200-247288800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:247288200-247289200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:247288200-247291000	Weak transcription	HSMMtube	muscle
29	chr1:247288800-247289000	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:247288800-247289200	ZNF genes & repeats	A549	lung
31	chr1:247288800-247294200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:247289000-247289200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:247289000-247289200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:247289000-247289200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:247289000-247289400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr1:247289000-247289400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:247289000-247289400	Enhancers	Dnd41	blood
38	chr1:247289200-247289400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr1:247289200-247289400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr1:247289200-247289400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:247289200-247289400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:247289200-247289400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:247289200-247290800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:247289200-247291000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:247289200-247291000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:247289200-247293200	Weak transcription	A549	lung
47	chr1:247289200-247294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:247289400-247290800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:247289400-247291000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:247289400-247291000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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