Variant report

Variant	esv3442657
Chromosome Location	chr7:139476008-139478856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:590)
CpG islands
(count:793)
Chromatin interactive
region (count:12)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:139477871-139478073	HepG2	liver:	n/a	n/a
2	BACH1	chr7:139476415-139476435	K562	blood:	n/a	n/a
3	BACH1	chr7:139477886-139478568	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:139476693-139477070	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr7:139477847-139478118	GM12878	blood:	n/a	chr7:139477995-139478008 chr7:139477956-139477969 chr7:139477950-139477963
6	BCLAF1	chr7:139477700-139478234	GM12878	blood:	n/a	chr7:139477995-139478008 chr7:139477956-139477969 chr7:139477950-139477963
7	BCLAF1	chr7:139475575-139476016	GM12878	blood:	n/a	n/a
8	BHLHE40	chr7:139477894-139478511	K562	blood:	n/a	n/a
9	BHLHE40	chr7:139477779-139478452	GM12878	blood:	n/a	n/a
10	BRCA1	chr7:139475630-139476142	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr7:139478432-139478442	GM12878	blood:	n/a	n/a
12	BRCA1	chr7:139478144-139478179	HepG2	liver:	n/a	n/a
13	CBX3	chr7:139476165-139476909	K562	blood:	n/a	n/a
14	CBX3	chr7:139477716-139478680	K562	blood:	n/a	n/a
15	CCNT2	chr7:139477791-139478524	K562	blood:	n/a	n/a
16	CEBPB	chr7:139476245-139476876	Hela-S3	cervix:	n/a	n/a
17	CEBPD	chr7:139477766-139478156	HepG2	liver:	n/a	n/a
18	CEBPD	chr7:139476667-139477079	HepG2	liver:	n/a	n/a
19	CHD1	chr7:139475591-139477005	GM12878	blood:	n/a	n/a
20	CHD2	chr7:139477875-139478098	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr7:139476460-139476843	GM12878	blood:	n/a	n/a
22	CHD2	chr7:139477848-139478170	GM12878	blood:	n/a	n/a
23	CHD2	chr7:139475739-139476033	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr7:139476634-139477127	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr7:139477365-139477437	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr7:139478436-139478506	GM12878	blood:	n/a	n/a
27	CREB1	chr7:139477695-139478463	K562	blood:	n/a	n/a
28	CREB1	chr7:139477853-139478203	A549	lung:	n/a	n/a
29	CREB1	chr7:139477697-139478481	HepG2	liver:	n/a	n/a
30	CTBP2	chr7:139477917-139478749	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr7:139475569-139476082	K562	blood:	n/a	chr7:139475859-139475872 chr7:139475771-139475789
32	CTCF	chr7:139477000-139477150	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr7:139478280-139478430	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr7:139478160-139478310	GM06990	blood:	n/a	n/a
35	CTCF	chr7:139478260-139478410	AG09319	gingival:	n/a	n/a
36	CTCF	chr7:139478320-139478470	GM12866	blood:	n/a	n/a
37	CTCF	chr7:139476520-139476670	AG10803	skin:	n/a	n/a
38	CTCF	chr7:139475551-139476020	GM12878	blood:	n/a	chr7:139475859-139475872 chr7:139475771-139475789
39	CTCF	chr7:139478180-139478330	GM06990	blood:	n/a	n/a
40	CTCF	chr7:139476740-139476890	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr7:139477860-139478010	AG04449	skin:	n/a	chr7:139477980-139477993
42	CTCF	chr7:139475980-139476130	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr7:139475485-139476068	MCF-7	breast:	n/a	chr7:139475859-139475872 chr7:139475771-139475789 chr7:139475499-139475507
44	CTCF	chr7:139476480-139476630	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr7:139475479-139476112	HCT-116	colon:	n/a	chr7:139475859-139475872 chr7:139475771-139475789 chr7:139475499-139475507
46	CTCF	chr7:139478220-139478370	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr7:139478220-139478370	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr7:139476260-139476410	AG10803	skin:	n/a	n/a
49	CTCF	chr7:139475553-139476042	IMR90	lung:	n/a	chr7:139475859-139475872 chr7:139475771-139475789
50	CTCF	chr7:139478200-139478350	AG04449	skin:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:139477895-139477945	SK-N-SH_RA	brain:	n/a
2	chr7:139477957-139478007	GM06990	blood:	n/a
3	chr7:139477895-139477945	SK-N-MC	brain:	n/a
4	chr7:139477959-139478009	BJ	skin:	n/a
5	chr7:139477841-139477891	HIPEpiC	eye:	n/a
6	chr7:139476910-139476960	HMEC	breast:	n/a
7	chr7:139477831-139477881	HRE	kidney:	n/a
8	chr7:139477831-139477881	PrEC	prostate:	n/a
9	chr7:139477831-139477881	ECC-1	luminal epithelium:	n/a
10	chr7:139478207-139478257	AG04450	lung:	fetal
11	chr7:139477841-139477891	NT2-D1	testis:	n/a
12	chr7:139478495-139478545	HAEpiC	amniotic membrane:	n/a
13	chr7:139478495-139478545	IMR90	lung:	fetal
14	chr7:139477831-139477881	ProgFib	skin:	n/a
15	chr7:139478019-139478069	SKMC	muscle:	n/a
16	chr7:139477893-139477943	SK-N-SH_RA	brain:	n/a
17	chr7:139478207-139478257	Hepatocyte	liver:	n/a
18	chr7:139477895-139477945	HRE	kidney:	n/a
19	chr7:139477959-139478009	MCF10A-Er-Src	breast:	n/a
20	chr7:139478495-139478545	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:139478019-139478069	SK-N-SH_RA	brain:	n/a
22	chr7:139478207-139478257	HNPCEpiC	eye:	n/a
23	chr7:139477957-139478007	SK-N-SH	brain:	n/a
24	chr7:139477959-139478009	HL-60	blood:	n/a
25	chr7:139477480-139477530	AG04449	skin:	fetal
26	chr7:139477895-139477945	PANC-1	pancreas:	n/a
27	chr7:139477474-139477524	NT2-D1	testis:	n/a
28	chr7:139477959-139478009	HEK293	kidney:	embryo
29	chr7:139476298-139476348	HRPEpiC	eye:	n/a
30	chr7:139476298-139476348	NHDF-neo	bronchial:	n/a
31	chr7:139477895-139477945	BE2_C	brain:	n/a
32	chr7:139477957-139478007	BJ	skin:	n/a
33	chr7:139477895-139477945	PrEC	prostate:	n/a
34	chr7:139477895-139477945	AG09309	skin:	n/a
35	chr7:139477831-139477881	H1-hESC	embryonic stem cell:	embryo
36	chr7:139478495-139478545	PrEC	prostate:	n/a
37	chr7:139477831-139477881	SK-N-MC	brain:	n/a
38	chr7:139477893-139477943	Hela-S3	cervix:	n/a
39	chr7:139478019-139478069	GM19239	blood:	n/a
40	chr7:139477893-139477943	NHBE	bronchial:	n/a
41	chr7:139477831-139477881	GM12878	blood:	n/a
42	chr7:139476910-139476960	HUVEC	blood vessel:	n/a
43	chr7:139476298-139476348	HUVEC	blood vessel:	n/a
44	chr7:139476910-139476960	MCF10A-Er-Src	breast:	n/a
45	chr7:139477841-139477891	SK-N-SH	brain:	n/a
46	chr7:139477841-139477891	T-47D	breast:	n/a
47	chr7:139477959-139478009	HEEpiC	esophagus:	n/a
48	chr7:139476910-139476960	Hela-S3	cervix:	n/a
49	chr7:139478495-139478545	AG04449	skin:	fetal
50	chr7:139477474-139477524	AG04450	lung:	fetal

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26158181..26160251-chr7:139476447..139479207,2	K562	blood:
2	chr7:139475640..139476258-chr7:139700454..139701227,2	MCF-7	breast:
3	chr7:139452624..139453717-chr7:139475690..139476509,3	MCF-7	breast:
4	chr7:139475446..139476273-chr7:139701791..139702721,7	K562	blood:
5	chr7:139330790..139331419-chr7:139475535..139476578,3	MCF-7	breast:
6	chr7:139475307..139476323-chr7:139701274..139702359,4	MCF-7	breast:
7	chr7:139474504..139476170-chr7:139702174..139703721,2	K562	blood:
8	chr7:139475354..139476270-chr7:139703680..139704339,2	MCF-7	breast:
9	chr7:139476813..139479584-chr7:139529025..139531896,2	MCF-7	breast:
10	chr1:45987489..45988144-chr7:139476148..139477015,2	Hela-S3	cervix:
11	chr7:139474297..139476701-chr7:139704235..139706049,2	K562	blood:
12	chr7:139478498..139480107-chr7:139674216..139675922,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBXAS1-3	chr7:139478055-139478270	NONHSAT123654
2	lnc-TBXAS1-3	chr7:139476850-139477040	NONHSAT123650
3	lnc-TBXAS1-3	chr7:139476946-139477040	NONHSAT123651
4	lnc-TBXAS1-3	chr7:139477935-139477949	NONHSAT123652
5	lnc-TBXAS1-3	chr7:139478053-139478270	NONHSAT123653

No data

Variant related genes	Relation type
HIPK2	TF binding region
TBXAS1	TF binding region
HIPK2	CpG island
TBXAS1	CpG island
ENSG00000059377	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000117450	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193287192	chr7:139476033-139476034	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs573122293	chr7:139476040-139476041	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs371613136	chr7:139476067-139476068	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs58251456	chr7:139476089-139476090	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs578009769	chr7:139476111-139476112	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs555663260	chr7:139476174-139476175	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs79389560	chr7:139476202-139476203	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs74775968	chr7:139476204-139476205	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs371596178	chr7:139476205-139476206	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545469266	chr7:139476209-139476210	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs182123914	chr7:139476213-139476214	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576354752	chr7:139476217-139476218	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs61143167	chr7:139476223-139476224	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs397707632	chr7:139476229-139476230	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs9690019	chr7:139476330-139476331	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs542992034	chr7:139476359-139476360	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145524431	chr7:139476388-139476389	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528898283	chr7:139476395-139476396	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200187327	chr7:139476404-139476405	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs562914145	chr7:139476410-139476411	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs199811965	chr7:139476412-139476413	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs59705464	chr7:139476414-139476415	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs77746585	chr7:139476415-139476416	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs565213758	chr7:139476462-139476463	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs532916717	chr7:139476476-139476477	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs78485386	chr7:139476477-139476478	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs79601364	chr7:139476561-139476562	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs57012152	chr7:139476570-139476571	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs574471486	chr7:139476610-139476611	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs373048677	chr7:139476643-139476644	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs376804036	chr7:139476645-139476646	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs537212281	chr7:139476665-139476666	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs541515646	chr7:139476673-139476674	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs370049173	chr7:139476682-139476683	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs567197626	chr7:139476717-139476718	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs534713387	chr7:139476744-139476745	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs552984217	chr7:139476775-139476776	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs376695806	chr7:139476781-139476782	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs577948846	chr7:139476791-139476792	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs545219189	chr7:139476824-139476825	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs557417511	chr7:139476868-139476869	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs575757749	chr7:139476903-139476904	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs543196087	chr7:139476947-139476948	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs545509812	chr7:139476953-139476954	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs573540346	chr7:139477008-139477009	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs563152257	chr7:139477031-139477032	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs535975668	chr7:139477047-139477048	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs540910197	chr7:139477049-139477050	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs373534617	chr7:139477070-139477071	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs532936252	chr7:139477136-139477137	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21781307	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139446600-139476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:139446800-139476400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:139469200-139476200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:139469200-139476400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:139474400-139476200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:139474800-139476400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:139474800-139476400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr7:139474800-139478400	Active TSS	Right Ventricle	heart
9	chr7:139475000-139476200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr7:139475200-139477000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr7:139475400-139476400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:139475400-139476400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:139475400-139476400	Flanking Active TSS	HUVEC	blood vessel
14	chr7:139475400-139477000	Active TSS	Stomach Mucosa	stomach
15	chr7:139475400-139477000	Flanking Active TSS	Dnd41	blood
16	chr7:139475400-139478200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:139475400-139478200	Active TSS	Thymus	Thymus
18	chr7:139475400-139478400	Active TSS	Stomach Smooth Muscle	stomach
19	chr7:139475400-139478600	Active TSS	Fetal Brain Female	brain
20	chr7:139475400-139478600	Active TSS	Lung	lung
21	chr7:139475400-139478800	Active TSS	Aorta	Aorta
22	chr7:139475400-139478800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:139475600-139476200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:139475600-139476200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr7:139475600-139476200	Weak transcription	Spleen	Spleen
26	chr7:139475600-139476400	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr7:139475600-139476400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr7:139475600-139476800	Flanking Active TSS	K562	blood
29	chr7:139475600-139477000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr7:139475600-139477200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr7:139475600-139477200	Active TSS	Brain Angular Gyrus	brain
32	chr7:139475600-139477200	Active TSS	Fetal Kidney	kidney
33	chr7:139475600-139477200	Active TSS	Fetal Lung	lung
34	chr7:139475600-139478000	Active TSS	Colonic Mucosa	Colon
35	chr7:139475600-139478000	Active TSS	Pancreas	Pancrea
36	chr7:139475600-139478200	Active TSS	Gastric	stomach
37	chr7:139475600-139478200	Active TSS	Right Atrium	heart
38	chr7:139475600-139478400	Active TSS	Brain Hippocampus Middle	brain
39	chr7:139475600-139478600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:139475600-139478600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr7:139475600-139478600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:139475600-139478600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:139475600-139478600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr7:139475600-139478800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:139475600-139478800	Active TSS	Left Ventricle	heart
46	chr7:139475600-139478800	Active TSS	Psoas Muscle	Psoas
47	chr7:139475600-139479000	Active TSS	NHLF	lung
48	chr7:139475800-139476200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:139475800-139476200	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr7:139475800-139476200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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