Variant report

Variant	esv3441217
Chromosome Location	chr7:66118067-66120865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:962)
CpG islands
(count:366)
Chromatin interactive
region (count:35)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:962 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:66119116-66119616	K562	blood:	n/a	n/a
2	ARID3A	chr7:66119183-66119719	HepG2	liver:	n/a	n/a
3	ATF1	chr7:66119167-66119664	K562	blood:	n/a	n/a
4	ATF2	chr7:66119716-66120068	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr7:66118932-66119634	GM12878	blood:	n/a	n/a
6	ATF2	chr7:66118840-66119779	GM12878	blood:	n/a	n/a
7	ATF2	chr7:66119162-66119631	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr7:66119169-66119662	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr7:66119168-66119702	A549	lung:	n/a	chr7:66119369-66119380 chr7:66119491-66119500 chr7:66119500-66119509
10	ATF3	chr7:66119127-66119687	K562	blood:	n/a	chr7:66119369-66119380 chr7:66119491-66119500 chr7:66119500-66119509
11	ATF3	chr7:66119105-66119640	A549	lung:	n/a	chr7:66119369-66119380 chr7:66119491-66119500 chr7:66119500-66119509
12	BACH1	chr7:66119044-66120214	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr7:66119035-66119833	A549	lung:	n/a	chr7:66119448-66119457 chr7:66119665-66119678
14	BCL3	chr7:66119135-66119682	GM12878	blood:	n/a	chr7:66119448-66119457 chr7:66119665-66119678
15	BCL3	chr7:66119260-66119740	GM12878	blood:	n/a	chr7:66119448-66119457 chr7:66119665-66119678
16	BCL3	chr7:66118929-66120075	A549	lung:	n/a	chr7:66119961-66119970 chr7:66119921-66119934 chr7:66119448-66119457 chr7:66119665-66119678
17	BCLAF1	chr7:66118933-66119785	GM12878	blood:	n/a	chr7:66119448-66119457 chr7:66119665-66119678
18	BCLAF1	chr7:66118954-66119662	GM12878	blood:	n/a	chr7:66119448-66119457
19	BHLHE40	chr7:66119077-66119999	K562	blood:	n/a	chr7:66119491-66119507 chr7:66119250-66119266
20	BHLHE40	chr7:66118327-66118594	K562	blood:	n/a	n/a
21	BHLHE40	chr7:66120241-66120374	K562	blood:	n/a	n/a
22	BHLHE40	chr7:66119049-66119955	GM12878	blood:	n/a	chr7:66119491-66119507 chr7:66119250-66119266
23	BRCA1	chr7:66119935-66120048	HepG2	liver:	n/a	n/a
24	BRCA1	chr7:66119207-66119728	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr7:66119118-66119652	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr7:66119085-66119705	HepG2	liver:	n/a	n/a
27	BRCA1	chr7:66119104-66119557	GM12878	blood:	n/a	n/a
28	CBX3	chr7:66120040-66120476	K562	blood:	n/a	n/a
29	CBX3	chr7:66118903-66119724	K562	blood:	n/a	n/a
30	CBX3	chr7:66118815-66120480	K562	blood:	n/a	n/a
31	CCNT2	chr7:66119053-66120118	K562	blood:	n/a	chr7:66119500-66119509
32	CEBPB	chr7:66118302-66118415	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr7:66118144-66118544	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr7:66120042-66120401	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr7:66118086-66118475	K562	blood:	n/a	n/a
36	CEBPB	chr7:66119290-66119708	K562	blood:	n/a	n/a
37	CEBPB	chr7:66120444-66120537	K562	blood:	n/a	n/a
38	CEBPB	chr7:66118483-66118662	GM12878	blood:	n/a	n/a
39	CEBPB	chr7:66120250-66120552	IMR90	lung:	n/a	n/a
40	CEBPB	chr7:66119117-66119803	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr7:66119195-66119676	K562	blood:	n/a	n/a
42	CEBPB	chr7:66118908-66119539	GM12878	blood:	n/a	n/a
43	CEBPB	chr7:66118074-66118505	K562	blood:	n/a	n/a
44	CEBPB	chr7:66119398-66119595	HepG2	liver:	n/a	n/a
45	CEBPD	chr7:66119034-66119714	HepG2	liver:	n/a	n/a
46	CEBPD	chr7:66119381-66119695	HepG2	liver:	n/a	n/a
47	CEBPD	chr7:66119026-66119757	K562	blood:	n/a	n/a
48	CHD1	chr7:66118749-66121526	IMR90	lung:	n/a	n/a
49	CHD1	chr7:66119247-66119882	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr7:66118979-66119903	GM12878	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:66119851-66119901	HepG2	liver:	n/a
2	chr7:66120042-66120092	Hela-S3	cervix:	n/a
3	chr7:66119076-66119126	MCF-7	breast:	n/a
4	chr7:66120042-66120092	AG10803	skin:	n/a
5	chr7:66120395-66120445	K562	blood:	n/a
6	chr7:66119479-66119529	SK-N-MC	brain:	n/a
7	chr7:66119076-66119126	HEEpiC	esophagus:	n/a
8	chr7:66120042-66120092	HUVEC	blood vessel:	n/a
9	chr7:66118400-66118450	SAEC	small airway:	n/a
10	chr7:66118400-66118450	HCM	heart:	n/a
11	chr7:66120042-66120092	HPAEpiC	pulmonary alveolar:	n/a
12	chr7:66118400-66118450	HRPEpiC	eye:	n/a
13	chr7:66120395-66120445	GM06990	blood:	n/a
14	chr7:66118400-66118450	U87	brain:	n/a
15	chr7:66119076-66119126	U87	brain:	n/a
16	chr7:66118400-66118450	ProgFib	skin:	n/a
17	chr7:66120395-66120445	CMK	blood:	n/a
18	chr7:66120042-66120092	HCPEpiC	choroid plexus:	n/a
19	chr7:66120042-66120092	Hepatocyte	liver:	n/a
20	chr7:66119076-66119126	ECC-1	luminal epithelium:	n/a
21	chr7:66119851-66119901	Hela-S3	cervix:	n/a
22	chr7:66120042-66120092	HCT-116	colon:	n/a
23	chr7:66119076-66119126	GM06990	blood:	n/a
24	chr7:66120395-66120445	HepG2	liver:	n/a
25	chr7:66119479-66119529	BE2_C	brain:	n/a
26	chr7:66120395-66120445	Hepatocyte	liver:	n/a
27	chr7:66120042-66120092	HCM	heart:	n/a
28	chr7:66118400-66118450	Hepatocyte	liver:	n/a
29	chr7:66119479-66119529	AG09309	skin:	n/a
30	chr7:66119851-66119901	HIPEpiC	eye:	n/a
31	chr7:66120395-66120445	GM19239	blood:	n/a
32	chr7:66119851-66119901	H1-hESC	embryonic stem cell:	embryo
33	chr7:66118400-66118450	NHDF-neo	bronchial:	n/a
34	chr7:66119076-66119126	H1-hESC	embryonic stem cell:	embryo
35	chr7:66119479-66119529	BJ	skin:	n/a
36	chr7:66119076-66119126	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:66119076-66119126	Hela-S3	cervix:	n/a
38	chr7:66119851-66119901	HAEpiC	amniotic membrane:	n/a
39	chr7:66119851-66119901	HUVEC	blood vessel:	n/a
40	chr7:66118400-66118450	HCT-116	colon:	n/a
41	chr7:66120395-66120445	HMEC	breast:	n/a
42	chr7:66120042-66120092	AG09309	skin:	n/a
43	chr7:66120395-66120445	AG09309	skin:	n/a
44	chr7:66120395-66120445	NH-A	brain:	n/a
45	chr7:66120042-66120092	RPTEC	kidney:	n/a
46	chr7:66119479-66119529	HCT-116	colon:	n/a
47	chr7:66119076-66119126	AG10803	skin:	n/a
48	chr7:66118400-66118450	HIPEpiC	eye:	n/a
49	chr7:66120042-66120092	T-47D	breast:	n/a
50	chr7:66119479-66119529	HRPEpiC	eye:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66119464..66119965-chr7:66146773..66147348,2	MCF-7	breast:
2	chr7:66117771..66119349-chr7:66203886..66206364,2	MCF-7	breast:
3	chr11:65728585..65729440-chr7:66119233..66119914,2	Hela-S3	cervix:
4	chr7:66055924..66057616-chr7:66118024..66120875,2	K562	blood:
5	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
6	chr7:66116638..66119241-chr7:66120094..66122874,2	K562	blood:
7	chr6:31619887..31620869-chr7:66119424..66120022,2	Hela-S3	cervix:
8	chr7:66118152..66121117-chr7:66145225..66147766,4	MCF-7	breast:
9	chr2:47403217..47403917-chr7:66119526..66120066,2	Hela-S3	cervix:
10	chr7:66057103..66058075-chr7:66118859..66119855,2	MCF-7	breast:
11	chr7:66118965..66120049-chr7:66146710..66147584,5	MCF-7	breast:
12	chr5:172260720..172261679-chr7:66119494..66120203,2	Hela-S3	cervix:
13	chr7:66116638..66119241-chr7:66120094..66122874,2	K562	blood:
14	chr7:66119671..66121376-chr7:66145999..66148457,2	MCF-7	breast:
15	chr20:62205090..62205853-chr7:66119345..66120093,2	Hela-S3	cervix:
16	chr7:66055738..66058439-chr7:66119494..66121209,2	MCF-7	breast:
17	chr7:65540244..65541852-chr7:66118000..66119624,2	K562	blood:
18	chr7:66118717..66119559-chr8:27168671..27169259,2	Hela-S3	cervix:
19	chr5:38845869..38846666-chr7:66119372..66120019,2	Hela-S3	cervix:
20	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:
21	chr7:66052648..66055044-chr7:66119940..66122450,2	K562	blood:
22	chr7:66092456..66095854-chr7:66117562..66119715,4	MCF-7	breast:
23	chr7:66117717..66119604-chr7:66204829..66207389,2	K562	blood:
24	chr2:10262501..10263375-chr7:66119471..66120046,2	Hela-S3	cervix:
25	chr7:66118570..66121104-chr7:66386256..66388029,2	K562	blood:
26	chr7:66119683..66120356-chr7:66146838..66147583,2	Hela-S3	cervix:
27	chr15:65477549..65478089-chr7:66119158..66119930,2	NB4	blood:
28	chr7:66120659..66123648-chr7:66152144..66153650,2	K562	blood:
29	chr7:66119236..66121485-chr7:66204940..66206778,2	K562	blood:
30	chr7:66119315..66119930-chr7:66205425..66206247,2	NB4	blood:
31	chr7:66119490..66121348-chr7:66145844..66148158,2	K562	blood:
32	chr7:66055703..66058887-chr7:66117840..66121190,6	MCF-7	breast:
33	chr7:66118921..66119611-chr7:66204868..66205819,2	HCT-116	colon:
34	chr14:50233938..50234677-chr7:66119528..66120183,2	Hela-S3	cervix:
35	chr20:10654441..10655070-chr7:66119072..66119600,2	NB4	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RABGEF1-2	chr7:66119573-66119613	ENSG00000226824.2
2	lnc-RABGEF1-2	chr7:66119525-66119613	ENSG00000226824.2
3	lnc-RABGEF1-2	chr7:66119506-66119613	NR_110037
4	lnc-RABGEF1-2	chr7:66119538-66119613	ENSG00000226824.2

No data

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

Extended variants
information (count: 123 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111638860	chr7:66118144-66118145	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs188196010	chr7:66118148-66118149	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs148083630	chr7:66118205-66118206	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs192935235	chr7:66118228-66118229	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs10233806	chr7:66118248-66118249	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs575666322	chr7:66118250-66118251	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs557483519	chr7:66118262-66118263	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs368723594	chr7:66118271-66118272	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs202165696	chr7:66118273-66118274	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs376303891	chr7:66118275-66118276	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs182847849	chr7:66118326-66118327	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs1638728	chr7:66118378-66118379	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs572107167	chr7:66118415-66118416	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs186895599	chr7:66118417-66118418	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs191355656	chr7:66118467-66118468	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs533273321	chr7:66118489-66118490	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs543777039	chr7:66118496-66118497	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs369743447	chr7:66118530-66118531	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs185062632	chr7:66118591-66118592	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs531788738	chr7:66118652-66118653	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs113696965	chr7:66118659-66118660	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs72461266	chr7:66118660-66118661	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs386410321	chr7:66118667-66118668	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs80104198	chr7:66118670-66118671	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs62466082	chr7:66118671-66118672	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs147341817	chr7:66118680-66118681	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs374481349	chr7:66118708-66118709	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs558792343	chr7:66118733-66118734	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs189454458	chr7:66118770-66118771	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs372012985	chr7:66118793-66118794	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs192356652	chr7:66118814-66118815	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs28425729	chr7:66118854-66118855	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs571019567	chr7:66118864-66118865	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs141013906	chr7:66118871-66118872	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs35239848	chr7:66118950-66118951	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs556466756	chr7:66118964-66118965	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs62466083	chr7:66118990-66118991	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs535119539	chr7:66118998-66118999	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs531513544	chr7:66119003-66119004	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs572129233	chr7:66119050-66119051	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs149895647	chr7:66119054-66119055	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs534485275	chr7:66119069-66119070	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs557919735	chr7:66119098-66119099	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs528204139	chr7:66119142-66119143	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs73377505	chr7:66119149-66119150	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs543740627	chr7:66119173-66119174	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs374529841	chr7:66119216-66119217	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs576465940	chr7:66119218-66119219	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs185318376	chr7:66119269-66119270	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs530531007	chr7:66119272-66119273	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66095200-66118400	Weak transcription	Fetal Heart	heart
2	chr7:66095200-66118400	Weak transcription	HUVEC	blood vessel
3	chr7:66097800-66118200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:66104600-66118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:66104800-66118200	Weak transcription	Pancreas	Pancrea
6	chr7:66104800-66118400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:66105000-66118600	Weak transcription	Esophagus	oesophagus
8	chr7:66105000-66119000	Weak transcription	Gastric	stomach
9	chr7:66105200-66118800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:66105600-66118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:66105800-66118400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:66105800-66118400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:66106000-66118200	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:66106000-66118400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:66106600-66118400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:66106800-66118200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:66106800-66118600	Weak transcription	Fetal Kidney	kidney
18	chr7:66107000-66118400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:66107200-66118200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:66107200-66118200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:66107400-66118600	Weak transcription	Fetal Lung	lung
22	chr7:66108000-66118400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:66108600-66118400	Weak transcription	Colonic Mucosa	Colon
24	chr7:66108800-66118200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:66109000-66118200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:66109000-66118200	Weak transcription	A549	lung
27	chr7:66109000-66118200	Weak transcription	HepG2	liver
28	chr7:66109000-66118400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:66109400-66118200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:66109400-66118200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:66109400-66118400	Weak transcription	Fetal Thymus	thymus
32	chr7:66110000-66118200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:66110000-66118400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:66110000-66118400	Weak transcription	Psoas Muscle	Psoas
35	chr7:66110000-66118400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:66110000-66118400	Weak transcription	NH-A	brain
37	chr7:66110000-66118800	Weak transcription	Ovary	ovary
38	chr7:66110400-66118200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:66110400-66118200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:66110400-66118400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:66110400-66118400	Weak transcription	NHLF	lung
42	chr7:66110800-66118400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:66110800-66118400	Weak transcription	Liver	Liver
44	chr7:66111000-66118200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr7:66111200-66118200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:66111200-66118200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:66111200-66118200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:66111200-66118200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:66111200-66118400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:66111200-66118400	Weak transcription	Primary T cells from cord blood	blood

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