Variant report

Variant	esv3338355
Chromosome Location	chr7:101458232-101462630
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	chr7:101461092-101462192	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:101459122-101459322	K562	blood:	n/a	n/a
3	ARID3A	chr7:101461170-101462030	K562	blood:	n/a	n/a
4	ARID3A	chr7:101458733-101458746	K562	blood:	n/a	n/a
5	ARID3A	chr7:101457931-101458268	K562	blood:	n/a	n/a
6	ARID3A	chr7:101459131-101459413	HepG2	liver:	n/a	n/a
7	ATF2	chr7:101458101-101458498	GM12878	blood:	n/a	n/a
8	BACH1	chr7:101457199-101459068	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr7:101457603-101458687	K562	blood:	n/a	n/a
10	BCL3	chr7:101457516-101458463	A549	lung:	n/a	chr7:101457612-101457625 chr7:101457901-101457910 chr7:101457611-101457624
11	BCL3	chr7:101457787-101458519	A549	lung:	n/a	chr7:101457901-101457910
12	BCLAF1	chr7:101459102-101459390	GM12878	blood:	n/a	chr7:101459194-101459203 chr7:101459195-101459208 chr7:101459191-101459200 chr7:101459190-101459203 chr7:101459192-101459205 chr7:101459193-101459206
13	BCLAF1	chr7:101458272-101458826	GM12878	blood:	n/a	n/a
14	BHLHE40	chr7:101456922-101459373	GM12878	blood:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
15	BHLHE40	chr7:101460395-101461320	HepG2	liver:	n/a	chr7:101460862-101460871 chr7:101460862-101460871 chr7:101460397-101460413
16	BHLHE40	chr7:101457327-101459370	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
17	BHLHE40	chr7:101457090-101459369	K562	blood:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
18	BHLHE40	chr7:101460711-101461216	A549	lung:	n/a	chr7:101460862-101460871 chr7:101460862-101460871
19	BHLHE40	chr7:101460741-101460945	HepG2	liver:	n/a	chr7:101460862-101460871 chr7:101460862-101460871
20	BHLHE40	chr7:101460410-101461301	K562	blood:	n/a	chr7:101460862-101460871 chr7:101460862-101460871
21	BHLHE40	chr7:101460385-101461244	GM12878	blood:	n/a	chr7:101460862-101460871 chr7:101460862-101460871 chr7:101460397-101460413
22	BRCA1	chr7:101459233-101459305	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr7:101456809-101458457	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr7:101461048-101461376	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr7:101460895-101461380	K562	blood:	n/a	n/a
26	CCNT2	chr7:101458354-101459570	K562	blood:	n/a	chr7:101459541-101459550 chr7:101458875-101458884 chr7:101458998-101459007
27	CCNT2	chr7:101459826-101461251	K562	blood:	n/a	n/a
28	CEBPB	chr7:101460951-101461499	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr7:101459164-101459413	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr7:101461019-101461526	K562	blood:	n/a	n/a
31	CEBPB	chr7:101456838-101458561	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr7:101457801-101458438	K562	blood:	n/a	n/a
33	CEBPB	chr7:101458017-101458543	GM12878	blood:	n/a	n/a
34	CEBPB	chr7:101459231-101459395	K562	blood:	n/a	n/a
35	CEBPB	chr7:101460974-101461512	K562	blood:	n/a	n/a
36	CEBPB	chr7:101461190-101461497	IMR90	lung:	n/a	n/a
37	CEBPD	chr7:101458795-101459003	HepG2	liver:	n/a	n/a
38	CEBPD	chr7:101458792-101459017	HepG2	liver:	n/a	n/a
39	CEBPD	chr7:101459070-101459452	HepG2	liver:	n/a	n/a
40	CEBPD	chr7:101458512-101458754	HepG2	liver:	n/a	n/a
41	CHD1	chr7:101459801-101462372	IMR90	lung:	n/a	chr7:101460415-101460425
42	CHD1	chr7:101457396-101459725	IMR90	lung:	n/a	n/a
43	CHD1	chr7:101460514-101460951	GM12878	blood:	n/a	n/a
44	CHD1	chr7:101457526-101459461	GM12878	blood:	n/a	n/a
45	CHD1	chr7:101460919-101460938	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr7:101460977-101461177	K562	blood:	n/a	n/a
47	CHD2	chr7:101458717-101458963	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr7:101458109-101458965	GM12878	blood:	n/a	n/a
49	CHD2	chr7:101459913-101460320	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr7:101457466-101458809	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101459292-101459342	PrEC	prostate:	n/a
2	chr7:101459954-101460004	AoSMC	blood vessel:	n/a
3	chr7:101459292-101459342	AG04450	lung:	fetal
4	chr7:101460955-101461005	HNPCEpiC	eye:	n/a
5	chr7:101459330-101459380	NHDF-neo	bronchial:	n/a
6	chr7:101459330-101459380	ECC-1	luminal epithelium:	n/a
7	chr7:101459292-101459342	Hepatocyte	liver:	n/a
8	chr7:101459330-101459380	ovcar-3	ovarian:	n/a
9	chr7:101461823-101461873	SK-N-SH_RA	brain:	n/a
10	chr7:101459024-101459074	HRCEpiC	kidney:	n/a
11	chr7:101459283-101459333	A549	lung:	n/a
12	chr7:101458365-101458415	ProgFib	skin:	n/a
13	chr7:101459024-101459074	GM19239	blood:	n/a
14	chr7:101458365-101458415	K562	blood:	n/a
15	chr7:101460955-101461005	GM19239	blood:	n/a
16	chr7:101459386-101459436	HL-60	blood:	n/a
17	chr7:101459292-101459342	AG10803	skin:	n/a
18	chr7:101458433-101458483	RPTEC	kidney:	n/a
19	chr7:101459954-101460004	HRE	kidney:	n/a
20	chr7:101460955-101461005	T-47D	breast:	n/a
21	chr7:101459330-101459380	HCPEpiC	choroid plexus:	n/a
22	chr7:101458740-101458790	HIPEpiC	eye:	n/a
23	chr7:101460955-101461005	BJ	skin:	n/a
24	chr7:101459024-101459074	HL-60	blood:	n/a
25	chr7:101460415-101460465	ProgFib	skin:	n/a
26	chr7:101459386-101459436	T-47D	breast:	n/a
27	chr7:101459386-101459436	AoSMC	blood vessel:	n/a
28	chr7:101459024-101459074	NB4	blood:	n/a
29	chr7:101458740-101458790	K562	blood:	n/a
30	chr7:101460955-101461005	HCT-116	colon:	n/a
31	chr7:101459292-101459342	SAEC	small airway:	n/a
32	chr7:101459292-101459342	GM12878	blood:	n/a
33	chr7:101458365-101458415	RPTEC	kidney:	n/a
34	chr7:101458740-101458790	HAEpiC	amniotic membrane:	n/a
35	chr7:101458365-101458415	ECC-1	luminal epithelium:	n/a
36	chr7:101459386-101459436	HMEC	breast:	n/a
37	chr7:101458365-101458415	ovcar-3	ovarian:	n/a
38	chr7:101459292-101459342	HEK293	kidney:	embryo
39	chr7:101460415-101460465	NT2-D1	testis:	n/a
40	chr7:101460955-101461005	RPTEC	kidney:	n/a
41	chr7:101459292-101459342	ProgFib	skin:	n/a
42	chr7:101458433-101458483	GM19239	blood:	n/a
43	chr7:101459283-101459333	BE2_C	brain:	n/a
44	chr7:101459330-101459380	NB4	blood:	n/a
45	chr7:101459024-101459074	GM12892	blood:	n/a
46	chr7:101460955-101461005	HRPEpiC	eye:	n/a
47	chr7:101458740-101458790	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:101460415-101460465	GM19239	blood:	n/a
49	chr7:101458740-101458790	ProgFib	skin:	n/a
50	chr7:101458365-101458415	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:101456128..101458480-chr7:101471279..101473363,2	K562	blood:
2	chr1:201682650..201683305-chr7:101457575..101458388,2	Hela-S3	cervix:
3	chr1:156084197..156084939-chr7:101457529..101458250,2	Hela-S3	cervix:
4	chr3:127394387..127395170-chr7:101458070..101458842,2	Hela-S3	cervix:
5	chr1:28836517..28839239-chr7:101457794..101459450,2	MCF-7	breast:
6	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
7	chr2:207024339..207026427-chr7:101458417..101459962,2	MCF-7	breast:
8	chr10:126849675..126850175-chr7:101459356..101459877,2	Hela-S3	cervix:
9	chr15:52469891..52472535-chr7:101457623..101459859,2	MCF-7	breast:
10	chr7:101271948..101273835-chr7:101457651..101460196,2	MCF-7	breast:
11	chr13:48611688..48613332-chr7:101457559..101460225,2	MCF-7	breast:
12	chr7:101462493..101465700-chr7:101703860..101705566,3	MCF-7	breast:
13	chr12:56572158..56573016-chr7:101457560..101458297,2	Hela-S3	cervix:
14	chr20:39764220..39767002-chr7:101458142..101460292,2	MCF-7	breast:
15	chr7:101245091..101246357-chr7:101457101..101458459,9	MCF-7	breast:
16	chr1:149222882..149224744-chr7:101459055..101461575,2	MCF-7	breast:
17	chr12:125398918..125401326-chr7:101458032..101459768,2	K562	blood:
18	chr7:101195035..101196752-chr7:101457071..101459067,2	MCF-7	breast:
19	chr7:101457026..101461124-chr7:101554455..101559051,6	MCF-7	breast:
20	chr7:101330663..101332938-chr7:101456021..101458863,3	K562	blood:
21	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
22	chr16:2818449..2821278-chr7:101459206..101460777,2	MCF-7	breast:
23	chr7:101457570..101460867-chr7:101928374..101931760,6	MCF-7	breast:
24	chr12:53297960..53298460-chr7:101458053..101458556,2	Hela-S3	cervix:

Variant related genes	Relation type
CUX1	TF binding region
CUX1	CpG island
ENSG00000136143	chromatin interactions
ENSG00000226648	chromatin interactions
ENSG00000160789	chromatin interactions
ENSG00000167978	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000257923	chromatin interactions
ENSG00000160963	chromatin interactions
ENSG00000259577	chromatin interactions
ENSG00000069966	chromatin interactions
ENSG00000114942	chromatin interactions
ENSG00000114626	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000265345	chromatin interactions
ENSG00000106436	chromatin interactions
ENSG00000160999	chromatin interactions
ENSG00000136159	chromatin interactions
ENSG00000175029	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000265864	chromatin interactions
ENSG00000259294	chromatin interactions
ENSG00000139613	chromatin interactions
ENSG00000124181	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11761339	chr7:101458429-101458430	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs559367504	chr7:101458439-101458440	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs544399632	chr7:101458456-101458457	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs34923282	chr7:101458512-101458513	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs577909816	chr7:101458519-101458520	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs544958711	chr7:101458538-101458539	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs10257848	chr7:101458552-101458553	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528517004	chr7:101458557-101458558	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs527252143	chr7:101458562-101458563	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs552305318	chr7:101458578-101458579	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs546981045	chr7:101458590-101458591	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs562171182	chr7:101458602-101458603	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs139202931	chr7:101458613-101458614	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs529320867	chr7:101458654-101458655	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs374946927	chr7:101458701-101458702	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs570524136	chr7:101458725-101458726	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs369968836	chr7:101458731-101458732	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs35110270	chr7:101458755-101458756	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs375270892	chr7:101458808-101458809	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs186533191	chr7:101458815-101458816	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs540157303	chr7:101458828-101458829	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs34679884	chr7:101458865-101458866	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs538969974	chr7:101458870-101458871	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs112003666	chr7:101458873-101458874	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs551681712	chr7:101458878-101458879	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs566792800	chr7:101458970-101458971	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs190979222	chr7:101459147-101459148	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs28650922	chr7:101459161-101459162	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs567401799	chr7:101459187-101459188	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs537536559	chr7:101459198-101459199	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs556357787	chr7:101459247-101459248	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs373949747	chr7:101459263-101459264	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs368174106	chr7:101459280-101459281	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs371287227	chr7:101459284-101459285	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs373609751	chr7:101459293-101459294	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs200925347	chr7:101459335-101459336	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs367706315	chr7:101459382-101459383	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs199911430	chr7:101459386-101459387	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs376760578	chr7:101459392-101459393	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs368907672	chr7:101459407-101459408	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs373131634	chr7:101459408-101459409	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs369556433	chr7:101459409-101459410	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs376266844	chr7:101459415-101459416	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
44	rs561392159	chr7:101459556-101459557	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs529426207	chr7:101460205-101460206	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs555764714	chr7:101460319-101460320	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs562975201	chr7:101460320-101460321	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs533380222	chr7:101460340-101460341	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs551520727	chr7:101460353-101460354	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs566829622	chr7:101460361-101460362	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	19907438	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101456800-101459400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:101456800-101460800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:101457000-101458400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:101457000-101458400	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr7:101457000-101458800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:101457000-101458800	Flanking Active TSS	Dnd41	blood
7	chr7:101457000-101459400	Active TSS	Colon Smooth Muscle	Colon
8	chr7:101457000-101460200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:101457000-101461000	Active TSS	Brain Anterior Caudate	brain
10	chr7:101457000-101461000	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr7:101457000-101461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:101457000-101461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr7:101457000-101461200	Active TSS	Hela-S3	cervix
14	chr7:101457000-101461400	Active TSS	Ovary	ovary
15	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
16	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
18	chr7:101457200-101458400	Active TSS	Right Ventricle	heart
19	chr7:101457200-101458800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:101457200-101458800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr7:101457200-101458800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr7:101457200-101459400	Active TSS	A549	lung
23	chr7:101457200-101460800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr7:101457200-101461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:101457200-101461000	Active TSS	Brain Cingulate Gyrus	brain
26	chr7:101457200-101461000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr7:101457200-101461000	Active TSS	Left Ventricle	heart
28	chr7:101457200-101461000	Active TSS	Thymus	Thymus
29	chr7:101457200-101461200	Active TSS	Aorta	Aorta
30	chr7:101457200-101461400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr7:101457200-101461400	Active TSS	Rectal Smooth Muscle	rectum
32	chr7:101457200-101461600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr7:101457200-101461800	Active TSS	Right Atrium	heart
34	chr7:101457200-101462000	Active TSS	NHDF-Ad	bronchial
35	chr7:101457400-101458400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:101457400-101458400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:101457400-101458400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:101457400-101458600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr7:101457400-101458600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr7:101457400-101458800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr7:101457400-101458800	Flanking Active TSS	Liver	Liver
42	chr7:101457400-101460800	Active TSS	Spleen	Spleen
43	chr7:101457400-101461000	Active TSS	Esophagus	oesophagus
44	chr7:101457400-101461000	Active TSS	Lung	lung
45	chr7:101457400-101461000	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr7:101457400-101461200	Active TSS	Gastric	stomach
47	chr7:101457400-101461200	Active TSS	Small Intestine	intestine
48	chr7:101457400-101461400	Active TSS	HSMMtube	muscle
49	chr7:101457400-101461400	Active TSS	NHLF	lung
50	chr7:101457600-101458400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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