Variant report

Variant	esv3330381
Chromosome Location	chr7:69062041-69064889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:268)
CpG islands
(count:674)
Chromatin interactive
region (count:4)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr7:69063100-69063327	H1-hESC	embryonic stem cell:	n/a	chr7:69063178-69063187
2	ATF3	chr7:69063053-69063343	GM12878	blood:	n/a	chr7:69063178-69063187
3	ATF3	chr7:69063091-69063322	HepG2	liver:	n/a	chr7:69063178-69063187
4	BACH1	chr7:69062461-69063013	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr7:69063820-69063967	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr7:69063035-69063521	GM12878	blood:	n/a	chr7:69063474-69063490 chr7:69063469-69063485
7	CEBPB	chr7:69062466-69062544	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr7:69064359-69064746	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr7:69063642-69064040	H1-hESC	embryonic stem cell:	n/a	chr7:69063817-69063827
10	CHD1	chr7:69063410-69064343	GM12878	blood:	n/a	chr7:69063817-69063827
11	CHD1	chr7:69064701-69065396	GM12878	blood:	n/a	chr7:69065096-69065106
12	CHD2	chr7:69063133-69063284	HepG2	liver:	n/a	chr7:69063259-69063269 chr7:69063183-69063193
13	CHD2	chr7:69064482-69064590	GM12878	blood:	n/a	n/a
14	CHD2	chr7:69063122-69063531	GM12878	blood:	n/a	chr7:69063259-69063269 chr7:69063183-69063193
15	CHD2	chr7:69062506-69062596	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr7:69064381-69064464	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr7:69062219-69062472	GM12878	blood:	n/a	n/a
18	CHD2	chr7:69062787-69062910	GM12878	blood:	n/a	n/a
19	CREB1	chr7:69063060-69063625	A549	lung:	n/a	n/a
20	CTBP2	chr7:69064293-69065439	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTBP2	chr7:69062218-69062982	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr7:69064480-69064630	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr7:69062584-69062763	GM12878	blood:	n/a	n/a
24	CTCF	chr7:69064540-69064690	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr7:69062600-69062750	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr7:69063922-69063924	Fibrobl	skin:	n/a	n/a
27	CTCF	chr7:69062540-69062690	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr7:69062637-69062678	GM12891	blood:	n/a	n/a
29	CTCF	chr7:69062640-69062790	GM12874	blood:	n/a	n/a
30	CTCF	chr7:69061960-69062110	GM06990	blood:	n/a	n/a
31	CTCF	chr7:69063854-69063920	Fibrobl	skin:	n/a	n/a
32	CTCF	chr7:69062560-69062710	AG04449	skin:	n/a	n/a
33	CTCF	chr7:69064520-69064670	AG04449	skin:	n/a	n/a
34	CTCF	chr7:69063521-69063656	Fibrobl	skin:	n/a	n/a
35	CTCF	chr7:69062907-69062926	Fibrobl	skin:	n/a	n/a
36	CTCF	chr7:69062636-69062676	GM19240	blood:	n/a	n/a
37	CTCF	chr7:69062678-69062683	GM19240	blood:	n/a	n/a
38	CTCF	chr7:69062590-69062657	A549	lung:	n/a	n/a
39	CUX1	chr7:69061937-69062382	GM12878	blood:	n/a	n/a
40	E2F6	chr7:69063098-69063367	K562	blood:	n/a	chr7:69063178-69063187 chr7:69063178-69063190
41	E2F6	chr7:69062486-69062653	K562	blood:	n/a	n/a
42	E2F6	chr7:69062354-69062832	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr7:69062199-69063044	A549	lung:	n/a	chr7:69062900-69062909 chr7:69062983-69062998
44	E2F6	chr7:69062259-69063011	H1-hESC	embryonic stem cell:	n/a	chr7:69062900-69062909 chr7:69062983-69062998
45	E2F6	chr7:69062378-69062801	A549	lung:	n/a	n/a
46	EBF1	chr7:69063289-69063570	GM12878	blood:	n/a	n/a
47	EGR1	chr7:69064277-69064688	H1-hESC	embryonic stem cell:	n/a	n/a
48	EGR1	chr7:69062980-69063458	MCF-7	breast:	n/a	chr7:69063173-69063186 chr7:69063175-69063185 chr7:69063173-69063186 chr7:69063091-69063101 chr7:69063178-69063188 chr7:69063172-69063187 chr7:69063174-69063188 chr7:69063179-69063192 chr7:69063438-69063448
49	EGR1	chr7:69062876-69063029	K562	blood:	n/a	chr7:69062904-69062913
50	EGR1	chr7:69063031-69063374	K562	blood:	n/a	chr7:69063173-69063186 chr7:69063175-69063185 chr7:69063173-69063186 chr7:69063091-69063101 chr7:69063178-69063188 chr7:69063172-69063187 chr7:69063174-69063188 chr7:69063179-69063192

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:69062621-69062671	GM06990	blood:	n/a
2	chr7:69064093-69064143	MCF10A-Er-Src	breast:	n/a
3	chr7:69064884-69064934	HCPEpiC	choroid plexus:	n/a
4	chr7:69062621-69062671	GM06990	blood:	n/a
5	chr7:69064093-69064143	MCF10A-Er-Src	breast:	n/a
6	chr7:69064884-69064934	HCPEpiC	choroid plexus:	n/a
7	chr7:69064801-69064851	NHBE	bronchial:	n/a
8	chr7:69063971-69064021	HEEpiC	esophagus:	n/a
9	chr7:69062887-69062937	CMK	blood:	n/a
10	chr7:69063404-69063454	BJ	skin:	n/a
11	chr7:69062534-69062584	T-47D	breast:	n/a
12	chr7:69062534-69062584	PANC-1	pancreas:	n/a
13	chr7:69062621-69062671	SKMC	muscle:	n/a
14	chr7:69063404-69063454	T-47D	breast:	n/a
15	chr7:69062621-69062671	BJ	skin:	n/a
16	chr7:69064884-69064934	HCT-116	colon:	n/a
17	chr7:69063971-69064021	GM06990	blood:	n/a
18	chr7:69062534-69062584	AG09319	gingival:	n/a
19	chr7:69063404-69063454	SK-N-SH	brain:	n/a
20	chr7:69062887-69062937	HAEpiC	amniotic membrane:	n/a
21	chr7:69062621-69062671	ovcar-3	ovarian:	n/a
22	chr7:69062534-69062584	GM19239	blood:	n/a
23	chr7:69064801-69064851	HMEC	breast:	n/a
24	chr7:69064868-69064918	NT2-D1	testis:	n/a
25	chr7:69063475-69063525	HUVEC	blood vessel:	n/a
26	chr7:69062534-69062584	PFSK-1	brain:	n/a
27	chr7:69064801-69064851	HEEpiC	esophagus:	n/a
28	chr7:69062887-69062937	K562	blood:	n/a
29	chr7:69063475-69063525	NT2-D1	testis:	n/a
30	chr7:69064868-69064918	Caco-2	colon:	n/a
31	chr7:69064801-69064851	HNPCEpiC	eye:	n/a
32	chr7:69062621-69062671	SAEC	small airway:	n/a
33	chr7:69062082-69062132	BJ	skin:	n/a
34	chr7:69064093-69064143	H1-hESC	embryonic stem cell:	embryo
35	chr7:69064868-69064918	HCM	heart:	n/a
36	chr7:69064801-69064851	SAEC	small airway:	n/a
37	chr7:69062887-69062937	SKMC	muscle:	n/a
38	chr7:69063475-69063525	HAEpiC	amniotic membrane:	n/a
39	chr7:69063971-69064021	K562	blood:	n/a
40	chr7:69063475-69063525	HL-60	blood:	n/a
41	chr7:69062534-69062584	HPAEpiC	pulmonary alveolar:	n/a
42	chr7:69064884-69064934	NB4	blood:	n/a
43	chr7:69064868-69064918	HRPEpiC	eye:	n/a
44	chr7:69064868-69064918	HCPEpiC	choroid plexus:	n/a
45	chr7:69064093-69064143	ovcar-3	ovarian:	n/a
46	chr7:69063475-69063525	GM06990	blood:	n/a
47	chr7:69063971-69064021	HepG2	liver:	n/a
48	chr7:69062887-69062937	NHDF-neo	bronchial:	n/a
49	chr7:69064801-69064851	HL-60	blood:	n/a
50	chr7:69064093-69064143	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:69064794..69066719-chr7:69068260..69070601,2	MCF-7	breast:
2	chr10:104261951..104262527-chr7:69062342..69063007,2	NB4	blood:
3	chr17:73150080..73150778-chr7:69062421..69063092,2	NB4	blood:
4	chr1:198906160..198906960-chr7:69062272..69062955,2	NB4	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALN1-1	chr7:69062220-69062546	XLOC_006493
2	lnc-CALN1-1	chr7:69062220-69062481	NR_108105
3	lnc-CALN1-1	chr7:69062220-69062803	NONHSAT121323
4	lnc-CALN1-1	chr7:69062220-69062434	XLOC_006493
5	lnc-CALN1-1	chr7:69062220-69062803	NONHSAT121322
6	lnc-CALN1-1	chr7:69062220-69063004	XLOC_006493
7	lnc-AUTS2-1	chr7:69061156-69063004	XLOC_006142
8	lnc-CALN1-1	chr7:69062220-69063004	XLOC_006493
9	lnc-CALN1-1	chr7:69062220-69062434	ENSG00000234215.2

No data

Variant related genes	Relation type
ENSG00000234215	TF binding region
AUTS2	TF binding region
ENSG00000234215	CpG island
AUTS2	CpG island
ENSG00000138107	chromatin interactions
ENSG00000229989	chromatin interactions
ENSG00000189159	chromatin interactions
PDGFRA	miRNA target sites
PROK2	miRNA target sites
CTGF	miRNA target sites

Extended variants
information (count: 66 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6949904	chr7:69062059-69062060	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs571078077	chr7:69062334-69062335	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs532187256	chr7:69062345-69062346	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs547244973	chr7:69062346-69062347	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs540027752	chr7:69062408-69062409	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs537022725	chr7:69062427-69062428	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs565637074	chr7:69062446-69062447	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs536194840	chr7:69062503-69062504	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs554935497	chr7:69062509-69062510	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs550585163	chr7:69062560-69062561	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs61745341	chr7:69062587-69062588	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559103349	chr7:69062634-69062635	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
13	rs375761586	chr7:69062657-69062658	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
14	rs184824205	chr7:69062704-69062705	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
15	rs188848811	chr7:69062710-69062711	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
16	rs553641782	chr7:69062750-69062751	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
17	rs570369965	chr7:69062793-69062794	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
18	rs575059889	chr7:69062815-69062816	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
19	rs61744589	chr7:69062826-69062827	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs61744597	chr7:69062867-69062868	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
21	rs560908302	chr7:69062904-69062905	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
22	rs181174114	chr7:69062932-69062933	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
23	rs551150360	chr7:69062942-69062943	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
24	rs543076764	chr7:69062946-69062947	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
25	rs564643148	chr7:69062967-69062968	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs369190652	chr7:69062969-69062970	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs532123855	chr7:69062991-69062992	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs569462206	chr7:69063006-69063007	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs537006984	chr7:69063041-69063042	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs556927531	chr7:69063046-69063047	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs547181624	chr7:69063206-69063207	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs559158551	chr7:69063235-69063236	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs529980681	chr7:69063282-69063283	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs567367899	chr7:69063295-69063296	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs548210157	chr7:69063334-69063335	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs572559239	chr7:69063539-69063540	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs569991943	chr7:69063554-69063555	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs537052270	chr7:69063563-69063564	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs56806935	chr7:69063601-69063602	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572172462	chr7:69063620-69063621	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs60861244	chr7:69063636-69063637	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535154040	chr7:69063659-69063660	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs113456096	chr7:69063747-69063748	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs553579494	chr7:69063760-69063761	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs574953738	chr7:69063809-69063810	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs182204808	chr7:69063817-69063818	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs540119013	chr7:69063827-69063828	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs73437201	chr7:69063900-69063901	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs575948411	chr7:69063912-69063913	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs6960590	chr7:69063960-69063961	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	22102821	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69061600-69062200	Flanking Active TSS	Brain Anterior Caudate	brain
2	chr7:69061600-69062400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:69061600-69065800	Active TSS	Brain Angular Gyrus	brain
4	chr7:69061800-69062200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr7:69061800-69062200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr7:69061800-69062200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:69061800-69062200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr7:69061800-69062400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr7:69061800-69062400	Active TSS	Stomach Smooth Muscle	stomach
10	chr7:69061800-69062800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:69061800-69062800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:69061800-69062800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:69061800-69063800	Active TSS	Primary T cells from cord blood	blood
14	chr7:69061800-69065200	Active TSS	Brain Hippocampus Middle	brain
15	chr7:69061800-69065200	Active TSS	Fetal Lung	lung
16	chr7:69061800-69065400	Active TSS	Aorta	Aorta
17	chr7:69061800-69065600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:69061800-69065600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:69061800-69065800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:69061800-69066000	Active TSS	Fetal Kidney	kidney
21	chr7:69061800-69066000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr7:69062000-69062200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:69062000-69062200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:69062000-69062200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:69062000-69062200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:69062000-69062200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:69062000-69062200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr7:69062000-69062200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr7:69062000-69062200	Enhancers	Primary B cells from cord blood	blood
30	chr7:69062000-69062200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr7:69062000-69062200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr7:69062000-69062200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
33	chr7:69062000-69062200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr7:69062000-69062200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:69062000-69062200	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr7:69062000-69062200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr7:69062000-69062200	Flanking Active TSS	Fetal Stomach	stomach
38	chr7:69062000-69062200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
39	chr7:69062000-69062400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr7:69062000-69062400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
41	chr7:69062000-69062400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr7:69062000-69062400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr7:69062000-69062400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:69062000-69062400	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr7:69062000-69062400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr7:69062000-69062400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:69062000-69062400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:69062000-69062400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:69062000-69062400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:69062000-69062400	Flanking Active TSS	Brain Cingulate Gyrus	brain

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