Variant report

Variant	esv1798142
Chromosome Location	chr2:153578113-153600123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:153597227-153597651	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:153599674-153599854	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:153597219-153597652	K562	blood:	n/a	n/a
4	BACH1	chr2:153585006-153585113	K562	blood:	n/a	n/a
5	BHLHE40	chr2:153587748-153587770	K562	blood:	n/a	n/a
6	CBX3	chr2:153594773-153595143	K562	blood:	n/a	n/a
7	CBX3	chr2:153596190-153596602	K562	blood:	n/a	n/a
8	CEBPB	chr2:153579248-153579487	H1-hESC	embryonic stem cell:	n/a	chr2:153579372-153579383
9	CEBPB	chr2:153579249-153579490	Hela-S3	cervix:	n/a	chr2:153579372-153579383
10	CEBPB	chr2:153579220-153579490	K562	blood:	n/a	chr2:153579372-153579383
11	CEBPB	chr2:153579240-153579462	HepG2	liver:	n/a	chr2:153579372-153579383
12	CEBPB	chr2:153585398-153585562	K562	blood:	n/a	n/a
13	CEBPB	chr2:153587033-153587881	MCF-7	breast:	n/a	chr2:153587654-153587665 chr2:153587654-153587667 chr2:153587656-153587665 chr2:153587655-153587666 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587792-153587804 chr2:153587654-153587667
14	CEBPB	chr2:153578170-153578809	K562	blood:	n/a	n/a
15	CEBPB	chr2:153584697-153584974	A549	lung:	n/a	n/a
16	CEBPB	chr2:153587125-153587817	IMR90	lung:	n/a	chr2:153587654-153587665 chr2:153587654-153587667 chr2:153587656-153587665 chr2:153587655-153587666 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587792-153587804 chr2:153587654-153587667
17	CEBPB	chr2:153586972-153588065	MCF-7	breast:	n/a	chr2:153587654-153587665 chr2:153587654-153587667 chr2:153587656-153587665 chr2:153587655-153587666 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587792-153587804 chr2:153587654-153587667
18	CEBPB	chr2:153587137-153587832	K562	blood:	n/a	chr2:153587654-153587665 chr2:153587654-153587667 chr2:153587656-153587665 chr2:153587655-153587666 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587792-153587804 chr2:153587654-153587667
19	CEBPB	chr2:153584783-153585184	K562	blood:	n/a	n/a
20	CEBPB	chr2:153587474-153587839	HepG2	liver:	n/a	chr2:153587654-153587665 chr2:153587654-153587667 chr2:153587656-153587665 chr2:153587655-153587666 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587792-153587804 chr2:153587654-153587667
21	CEBPB	chr2:153587242-153587831	A549	lung:	n/a	chr2:153587654-153587665 chr2:153587654-153587667 chr2:153587656-153587665 chr2:153587655-153587666 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587792-153587804 chr2:153587654-153587667
22	CEBPB	chr2:153587556-153587735	HepG2	liver:	n/a	chr2:153587654-153587665 chr2:153587654-153587667 chr2:153587656-153587665 chr2:153587655-153587666 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587654-153587667
23	CEBPB	chr2:153587128-153587744	Hela-S3	cervix:	n/a	chr2:153587654-153587665 chr2:153587654-153587667 chr2:153587656-153587665 chr2:153587655-153587666 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587656-153587665 chr2:153587654-153587667
24	CHD1	chr2:153597196-153597698	IMR90	lung:	n/a	n/a
25	CHD1	chr2:153580196-153580243	GM12878	blood:	n/a	n/a
26	CTCF	chr2:153597340-153597490	HA-sp	spinal cord:	n/a	chr2:153597387-153597408 chr2:153597397-153597405 chr2:153597392-153597410
27	CTCF	chr2:153599660-153599810	HVMF	connective:	n/a	chr2:153599703-153599721 chr2:153599698-153599719 chr2:153599708-153599716
28	CTCF	chr2:153599640-153599790	HEEpiC	esophagus:	n/a	chr2:153599703-153599721 chr2:153599698-153599719 chr2:153599708-153599716
29	CTCF	chr2:153597129-153597681	K562	blood:	n/a	chr2:153597387-153597408 chr2:153597397-153597405 chr2:153597392-153597410
30	CTCF	chr2:153597203-153597627	T-47D	breast:	n/a	chr2:153597387-153597408 chr2:153597397-153597405 chr2:153597392-153597410
31	CTCF	chr2:153597360-153597510	HA-sp	spinal cord:	n/a	chr2:153597387-153597408 chr2:153597397-153597405 chr2:153597392-153597410
32	CTCF	chr2:153599660-153599810	HRE	kidney:	n/a	chr2:153599703-153599721 chr2:153599698-153599719 chr2:153599708-153599716
33	CTCF	chr2:153599680-153599830	GM12864	blood:	n/a	chr2:153599703-153599721 chr2:153599698-153599719 chr2:153599708-153599716
34	CTCF	chr2:153599620-153599770	HAc	cerebellar:	n/a	chr2:153599703-153599721 chr2:153599698-153599719 chr2:153599708-153599716
35	CTCF	chr2:153599660-153599810	AG09319	gingival:	n/a	chr2:153599703-153599721 chr2:153599698-153599719 chr2:153599708-153599716
36	CTCF	chr2:153597620-153597770	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr2:153597380-153597530	HFF-Myc	foreskin:	n/a	chr2:153597387-153597408 chr2:153597397-153597405 chr2:153597392-153597410
38	CTCF	chr2:153599630-153599812	Lung_OC	lung:	n/a	chr2:153599703-153599721 chr2:153599698-153599719 chr2:153599708-153599716
39	CTCF	chr2:153597380-153597530	HFF	foreskin:	n/a	chr2:153597387-153597408 chr2:153597397-153597405 chr2:153597392-153597410
40	CTCF	chr2:153599640-153599790	Hela-S3	cervix:	n/a	chr2:153599703-153599721 chr2:153599698-153599719 chr2:153599708-153599716
41	CTCF	chr2:153597400-153597550	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr2:153599560-153599710	GM12875	blood:	n/a	n/a
43	CTCF	chr2:153597313-153597552	GM10266	blood:	n/a	chr2:153597387-153597408 chr2:153597397-153597405 chr2:153597392-153597410
44	CTCF	chr2:153597299-153597563	T-47D	breast:	n/a	chr2:153597387-153597408 chr2:153597397-153597405 chr2:153597392-153597410
45	CTCF	chr2:153597380-153597530	GM12878	blood:	n/a	chr2:153597387-153597408 chr2:153597397-153597405 chr2:153597392-153597410
46	CTCF	chr2:153599640-153599790	HL-60	blood:	n/a	chr2:153599703-153599721 chr2:153599698-153599719 chr2:153599708-153599716
47	CTCF	chr2:153599611-153599799	MCF-7	breast:	n/a	chr2:153599703-153599721 chr2:153599698-153599719 chr2:153599708-153599716
48	CTCF	chr2:153599503-153599853	H1-hESC	embryonic stem cell:	n/a	chr2:153599703-153599721 chr2:153599698-153599719 chr2:153599708-153599716
49	CTCF	chr2:153580260-153580410	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr2:153597420-153597570	AG04450	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:153579142-153579192	IMR90	lung:	fetal
2	chr2:153579142-153579192	AG09319	gingival:	n/a
3	chr2:153579142-153579192	PrEC	prostate:	n/a
4	chr2:153579142-153579192	HRE	kidney:	n/a
5	chr2:153579142-153579192	SK-N-MC	brain:	n/a
6	chr2:153579142-153579192	Jurkat	blood:	n/a
7	chr2:153579142-153579192	HIPEpiC	eye:	n/a
8	chr2:153579142-153579192	GM12892	blood:	n/a
9	chr2:153579142-153579192	AG04450	lung:	fetal
10	chr2:153579142-153579192	HNPCEpiC	eye:	n/a
11	chr2:153579142-153579192	A549	lung:	n/a
12	chr2:153579142-153579192	RPTEC	kidney:	n/a
13	chr2:153579142-153579192	MCF-7	breast:	n/a
14	chr2:153579142-153579192	K562	blood:	n/a
15	chr2:153579142-153579192	Caco-2	colon:	n/a
16	chr2:153579142-153579192	HPAEpiC	pulmonary alveolar:	n/a
17	chr2:153579142-153579192	GM19239	blood:	n/a
18	chr2:153579142-153579192	NB4	blood:	n/a
19	chr2:153579142-153579192	T-47D	breast:	n/a
20	chr2:153579142-153579192	GM12891	blood:	n/a
21	chr2:153579142-153579192	BJ	skin:	n/a
22	chr2:153579142-153579192	AG09309	skin:	n/a
23	chr2:153579142-153579192	BE2_C	brain:	n/a
24	chr2:153579142-153579192	GM06990	blood:	n/a
25	chr2:153579142-153579192	HMEC	breast:	n/a
26	chr2:153579142-153579192	Hepatocyte	liver:	n/a
27	chr2:153579142-153579192	HEK293	kidney:	embryo
28	chr2:153579142-153579192	NT2-D1	testis:	n/a
29	chr2:153579142-153579192	PANC-1	pancreas:	n/a
30	chr2:153579142-153579192	U87	brain:	n/a
31	chr2:153579142-153579192	ECC-1	luminal epithelium:	n/a
32	chr2:153579142-153579192	HCM	heart:	n/a
33	chr2:153579142-153579192	AG04449	skin:	fetal
34	chr2:153579142-153579192	HepG2	liver:	n/a
35	chr2:153579142-153579192	Hela-S3	cervix:	n/a
36	chr2:153579142-153579192	HUVEC	blood vessel:	n/a
37	chr2:153579142-153579192	HCPEpiC	choroid plexus:	n/a
38	chr2:153579142-153579192	NH-A	brain:	n/a
39	chr2:153579142-153579192	LNCaP	prostate:	n/a
40	chr2:153579142-153579192	SAEC	small airway:	n/a
41	chr2:153579142-153579192	HCF	heart:	n/a
42	chr2:153579142-153579192	SK-N-SH	brain:	n/a
43	chr2:153579142-153579192	PFSK-1	brain:	n/a
44	chr2:153579142-153579192	ovcar-3	ovarian:	n/a
45	chr2:153579142-153579192	HL-60	blood:	n/a
46	chr2:153579142-153579192	AoSMC	blood vessel:	n/a
47	chr2:153579142-153579192	ProgFib	skin:	n/a
48	chr2:153579142-153579192	HRCEpiC	kidney:	n/a
49	chr2:153579142-153579192	SKMC	muscle:	n/a
50	chr2:153579142-153579192	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:153572899..153575591-chr2:153595593..153597723,2	MCF-7	breast:
2	chr2:153564281..153565931-chr2:153590243..153592879,2	K562	blood:
3	chr2:153597391..153597936-chr2:154334957..154335467,2	K562	blood:
4	chr2:153548570..153551417-chr2:153597011..153599645,2	MCF-7	breast:
5	chr2:153573896..153574752-chr2:153596891..153597759,3	MCF-7	breast:
6	chr2:152893498..152894006-chr2:153596632..153597403,2	K562	blood:
7	chr2:153575200..153576038-chr2:153597312..153597856,2	MCF-7	breast:
8	chr2:153589125..153592910-chr2:153595125..153598674,4	K562	blood:
9	chr2:153586570..153590244-chr2:153591185..153594577,6	K562	blood:
10	chr2:153582588..153584915-chr2:153586087..153589184,3	MCF-7	breast:
11	chr2:153585697..153588131-chr2:153885435..153888127,2	K562	blood:
12	chr2:153586570..153588683-chr2:153591987..153594284,2	K562	blood:
13	chr2:153576417..153577088-chr2:153597271..153597951,2	MCF-7	breast:
14	chr2:153583102..153585171-chr2:153586170..153588194,2	MCF-7	breast:
15	chr2:153580599..153583236-chr2:153592438..153595174,3	K562	blood:
16	chr2:153574438..153578622-chr2:153591966..153593702,3	MCF-7	breast:
17	chr15:26023175..26023695-chr2:153599237..153599818,2	MCF-7	breast:
18	chr2:153570928..153574014-chr2:153598434..153601462,3	MCF-7	breast:
19	chr2:153582588..153584915-chr2:153586087..153589184,3	MCF-7	breast:
20	chr2:153597440..153598293-chr2:154375099..154375934,2	K562	blood:
21	chr2:153594973..153596577-chr2:153598285..153600899,2	K562	blood:
22	chr2:153581736..153584491-chr2:154342073..154344464,2	K562	blood:
23	chr2:153580599..153583236-chr2:153592438..153595174,3	K562	blood:
24	chr2:153572903..153577079-chr2:153590575..153593483,4	K562	blood:
25	chr2:153572353..153572961-chr2:153587436..153588061,2	MCF-7	breast:
26	chr2:153589125..153592910-chr2:153595125..153598674,4	K562	blood:
27	chr2:153583102..153585171-chr2:153586170..153588194,2	MCF-7	breast:
28	chr2:153572170..153572850-chr2:153599231..153600186,2	MCF-7	breast:
29	chr2:153574101..153576405-chr2:153599674..153601908,2	K562	blood:
30	chr2:153586570..153588683-chr2:153591987..153594284,2	K562	blood:
31	chr2:153586570..153590244-chr2:153591185..153594577,6	K562	blood:
32	chr2:153572156..153572973-chr2:153596946..153597899,5	MCF-7	breast:
33	chr2:153597123..153597921-chr2:154334933..154335784,3	MCF-7	breast:
34	chr2:153599292..153601773-chr2:153604538..153608666,3	K562	blood:
35	chr2:153573681..153576550-chr2:153596257..153599415,3	K562	blood:
36	chr2:153572370..153575130-chr2:153597326..153599470,2	MCF-7	breast:
37	chr2:153594973..153596577-chr2:153598285..153600899,2	K562	blood:
38	chr2:153574994..153576922-chr2:153576951..153581012,5	MCF-7	breast:
39	chr2:153539091..153540596-chr2:153588784..153590668,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL6IP6-2	chr2:153591508-153591640	NONHSAT074992

Variant related genes	Relation type
PRPF40A	TF binding region
PRPF40A	CpG island
ENSG00000177519	chromatin interactions
ENSG00000177917	chromatin interactions
ENSG00000196504	chromatin interactions

Extended variants
information (count: 897 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4664606	chr2:153578113-153578114	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190221246	chr2:153578141-153578142	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148956222	chr2:153578162-153578163	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs541195802	chr2:153578186-153578187	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs564590970	chr2:153578197-153578198	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs181434997	chr2:153578208-153578209	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186018727	chr2:153578232-153578233	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569182798	chr2:153578241-153578242	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs531601473	chr2:153578257-153578258	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs551668150	chr2:153578272-153578273	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs192027494	chr2:153578312-153578313	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183503307	chr2:153578333-153578334	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143642011	chr2:153578354-153578355	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs116044866	chr2:153578362-153578363	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs4233660	chr2:153578386-153578387	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148091573	chr2:153578394-153578395	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs116323203	chr2:153578440-153578441	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs141837232	chr2:153578474-153578475	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs558035667	chr2:153578547-153578548	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs542130513	chr2:153578613-153578614	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs556003465	chr2:153578617-153578618	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs572587351	chr2:153578638-153578639	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs541605186	chr2:153578646-153578647	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs75730121	chr2:153578657-153578658	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564425145	chr2:153578700-153578701	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs12994825	chr2:153578707-153578708	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543853161	chr2:153578744-153578745	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371382217	chr2:153578756-153578757	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs539838113	chr2:153578795-153578796	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs529281287	chr2:153578812-153578813	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs2346549	chr2:153578900-153578901	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs368651184	chr2:153578943-153578944	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568333646	chr2:153579017-153579018	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528957914	chr2:153579031-153579032	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544326427	chr2:153579054-153579055	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188947990	chr2:153579084-153579085	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372012094	chr2:153579116-153579117	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368159480	chr2:153579134-153579135	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546936049	chr2:153579144-153579145	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs191977078	chr2:153579152-153579153	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566736242	chr2:153579156-153579157	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577551984	chr2:153579188-153579189	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549389577	chr2:153579242-153579243	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs569340072	chr2:153579245-153579246	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs182072784	chr2:153579289-153579290	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs572696634	chr2:153579294-153579295	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs534914704	chr2:153579314-153579315	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs558347703	chr2:153579320-153579321	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562257301	chr2:153579327-153579328	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs538859460	chr2:153579344-153579345	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153575800-153582800	Weak transcription	Lung	lung
2	chr2:153575800-153587200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:153575800-153611600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:153575800-153611600	Weak transcription	Esophagus	oesophagus
5	chr2:153575800-153621400	Weak transcription	Pancreas	Pancrea
6	chr2:153576000-153578400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:153576000-153579200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:153576000-153581200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:153576000-153594400	Weak transcription	Left Ventricle	heart
10	chr2:153576000-153615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:153576200-153578200	Weak transcription	HSMM	muscle
12	chr2:153576200-153578400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:153576200-153578400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:153576200-153578600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:153576200-153594800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:153576600-153578200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:153576600-153578200	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr2:153576600-153578400	Enhancers	Primary B cells from cord blood	blood
19	chr2:153576600-153587000	Weak transcription	Placenta	Placenta
20	chr2:153576800-153578800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:153576800-153581200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:153576800-153581800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:153576800-153585200	Weak transcription	Fetal Stomach	stomach
24	chr2:153576800-153587200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:153576800-153591400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:153576800-153592600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:153576800-153592800	Weak transcription	NH-A	brain
28	chr2:153577000-153578200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:153577000-153578200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:153577000-153578600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:153577000-153578800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr2:153577000-153578800	Genic enhancers	HepG2	liver
33	chr2:153577000-153579200	Weak transcription	Right Ventricle	heart
34	chr2:153577000-153579400	Weak transcription	HMEC	breast
35	chr2:153577000-153582800	Weak transcription	Psoas Muscle	Psoas
36	chr2:153577000-153586400	Weak transcription	NHEK	skin
37	chr2:153577000-153587200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:153577000-153592600	Weak transcription	Fetal Intestine Large	intestine
39	chr2:153577000-153592800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:153577000-153593000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:153577000-153593000	Weak transcription	Osteobl	bone
42	chr2:153577000-153594400	Weak transcription	Aorta	Aorta
43	chr2:153577000-153594600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:153577000-153595000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:153577200-153578200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:153577200-153578200	Weak transcription	Fetal Heart	heart
47	chr2:153577200-153578200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:153577200-153578400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:153577200-153578400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:153577200-153578800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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