Variant report

Variant	nsv820163
Chromosome Location	chr7:127031590-127033207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:680)
CpG islands
(count:369)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:127032260-127032357	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:127032605-127032883	K562	blood:	n/a	n/a
3	ATF1	chr7:127032627-127032946	K562	blood:	n/a	n/a
4	ATF2	chr7:127032490-127032929	GM12878	blood:	n/a	n/a
5	ATF2	chr7:127032969-127033471	GM12878	blood:	n/a	n/a
6	ATF2	chr7:127032180-127032447	GM12878	blood:	n/a	n/a
7	ATF2	chr7:127032075-127033378	GM12878	blood:	n/a	n/a
8	ATF3	chr7:127032574-127032974	A549	lung:	n/a	n/a
9	ATF3	chr7:127032504-127033255	A549	lung:	n/a	chr7:127032969-127032978
10	BACH1	chr7:127031783-127032485	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr7:127032784-127033301	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr7:127032600-127032927	GM12878	blood:	n/a	n/a
13	BCL11A	chr7:127032127-127032451	GM12878	blood:	n/a	chr7:127032429-127032442 chr7:127032340-127032349
14	BCL3	chr7:127032444-127032924	A549	lung:	n/a	chr7:127032788-127032797
15	BCLAF1	chr7:127031472-127033237	K562	blood:	n/a	chr7:127032429-127032442 chr7:127032008-127032021 chr7:127032987-127033000 chr7:127032340-127032349 chr7:127032970-127032979 chr7:127033122-127033131 chr7:127032788-127032797
16	BCLAF1	chr7:127031738-127033424	GM12878	blood:	n/a	chr7:127032429-127032442 chr7:127032008-127032021 chr7:127032987-127033000 chr7:127032340-127032349 chr7:127032970-127032979 chr7:127033122-127033131 chr7:127032788-127032797
17	BCLAF1	chr7:127032079-127033345	GM12878	blood:	n/a	chr7:127032429-127032442 chr7:127032987-127033000 chr7:127032340-127032349 chr7:127032970-127032979 chr7:127033122-127033131 chr7:127032788-127032797
18	BHLHE40	chr7:127031709-127033429	K562	blood:	n/a	chr7:127032426-127032442 chr7:127032018-127032034 chr7:127032418-127032434
19	BHLHE40	chr7:127031977-127033252	HepG2	liver:	n/a	chr7:127032426-127032442 chr7:127032018-127032034 chr7:127032418-127032434
20	BHLHE40	chr7:127031825-127033653	GM12878	blood:	n/a	chr7:127032426-127032442 chr7:127032018-127032034 chr7:127032418-127032434
21	BRCA1	chr7:127032317-127032468	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr7:127032668-127033339	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr7:127031612-127031690	GM12878	blood:	n/a	n/a
24	CBX3	chr7:127032050-127033727	K562	blood:	n/a	n/a
25	CCNT2	chr7:127031495-127033171	K562	blood:	n/a	n/a
26	CEBPB	chr7:127031665-127032277	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr7:127032621-127033249	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr7:127032955-127033504	GM12878	blood:	n/a	n/a
29	CEBPD	chr7:127032640-127032901	HepG2	liver:	n/a	n/a
30	CEBPD	chr7:127032061-127033416	K562	blood:	n/a	n/a
31	CEBPD	chr7:127032444-127033050	HepG2	liver:	n/a	n/a
32	CHD1	chr7:127031814-127031896	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr7:127031517-127033358	GM12878	blood:	n/a	chr7:127032379-127032389
34	CHD1	chr7:127031088-127033775	IMR90	lung:	n/a	chr7:127032379-127032389
35	CHD2	chr7:127032154-127032455	H1-hESC	embryonic stem cell:	n/a	chr7:127032379-127032389
36	CHD2	chr7:127032099-127033169	HepG2	liver:	n/a	chr7:127032379-127032389
37	CHD2	chr7:127031659-127031789	GM12878	blood:	n/a	n/a
38	CHD2	chr7:127032661-127032755	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr7:127032094-127033324	GM12878	blood:	n/a	chr7:127032379-127032389
40	CHD2	chr7:127031786-127033187	Hela-S3	cervix:	n/a	chr7:127032379-127032389
41	CHD2	chr7:127031959-127033427	K562	blood:	n/a	chr7:127032379-127032389
42	CREB1	chr7:127031749-127033172	A549	lung:	n/a	n/a
43	CREB1	chr7:127032546-127032962	A549	lung:	n/a	n/a
44	CREB1	chr7:127031571-127033319	HepG2	liver:	n/a	n/a
45	CREB1	chr7:127031461-127033309	GM12878	blood:	n/a	n/a
46	CREB1	chr7:127032585-127033008	ECC-1	luminal epithelium:	n/a	n/a
47	CREB1	chr7:127031998-127033288	K562	blood:	n/a	n/a
48	CTBP2	chr7:127032209-127033405	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr7:127032500-127032650	HEK293	kidney:	n/a	n/a
50	CTCF	chr7:127032300-127032450	HCM	heart:	n/a	chr7:127032425-127032438

(count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:127032509-127032559	ProgFib	skin:	n/a
2	chr7:127032423-127032473	ovcar-3	ovarian:	n/a
3	chr7:127032075-127032125	GM12892	blood:	n/a
4	chr7:127032509-127032559	ProgFib	skin:	n/a
5	chr7:127032423-127032473	ovcar-3	ovarian:	n/a
6	chr7:127032075-127032125	GM12892	blood:	n/a
7	chr7:127032075-127032125	BJ	skin:	n/a
8	chr7:127032512-127032562	GM19239	blood:	n/a
9	chr7:127032423-127032473	HCF	heart:	n/a
10	chr7:127032512-127032562	GM06990	blood:	n/a
11	chr7:127032075-127032125	Hela-S3	cervix:	n/a
12	chr7:127033083-127033133	BJ	skin:	n/a
13	chr7:127033083-127033133	NHDF-neo	bronchial:	n/a
14	chr7:127032512-127032562	HRPEpiC	eye:	n/a
15	chr7:127032512-127032562	ECC-1	luminal epithelium:	n/a
16	chr7:127032075-127032125	HCM	heart:	n/a
17	chr7:127032423-127032473	HCM	heart:	n/a
18	chr7:127032075-127032125	K562	blood:	n/a
19	chr7:127032512-127032562	HNPCEpiC	eye:	n/a
20	chr7:127031624-127031674	IMR90	lung:	fetal
21	chr7:127032509-127032559	HEEpiC	esophagus:	n/a
22	chr7:127031624-127031674	MCF-7	breast:	n/a
23	chr7:127031624-127031674	SK-N-SH	brain:	n/a
24	chr7:127032512-127032562	AG04449	skin:	fetal
25	chr7:127032512-127032562	HEK293	kidney:	embryo
26	chr7:127032512-127032562	NHBE	bronchial:	n/a
27	chr7:127032423-127032473	U87	brain:	n/a
28	chr7:127032423-127032473	IMR90	lung:	fetal
29	chr7:127032075-127032125	IMR90	lung:	fetal
30	chr7:127032423-127032473	LNCaP	prostate:	n/a
31	chr7:127033083-127033133	LNCaP	prostate:	n/a
32	chr7:127032423-127032473	PANC-1	pancreas:	n/a
33	chr7:127032509-127032559	NH-A	brain:	n/a
34	chr7:127033083-127033133	HCF	heart:	n/a
35	chr7:127032075-127032125	HCPEpiC	choroid plexus:	n/a
36	chr7:127032423-127032473	PrEC	prostate:	n/a
37	chr7:127033083-127033133	RPTEC	kidney:	n/a
38	chr7:127032423-127032473	K562	blood:	n/a
39	chr7:127032512-127032562	SAEC	small airway:	n/a
40	chr7:127031624-127031674	HCT-116	colon:	n/a
41	chr7:127033083-127033133	AG09309	skin:	n/a
42	chr7:127031624-127031674	NH-A	brain:	n/a
43	chr7:127032075-127032125	HEEpiC	esophagus:	n/a
44	chr7:127032075-127032125	PFSK-1	brain:	n/a
45	chr7:127033083-127033133	PrEC	prostate:	n/a
46	chr7:127032509-127032559	HIPEpiC	eye:	n/a
47	chr7:127032509-127032559	SKMC	muscle:	n/a
48	chr7:127032075-127032125	AG10803	skin:	n/a
49	chr7:127032075-127032125	MCF-7	breast:	n/a
50	chr7:127032075-127032125	HRCEpiC	kidney:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
2	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
3	chr7:127030702..127032822-chr7:127225677..127228410,2	K562	blood:
4	chr7:127031057..127033330-chr7:127290561..127293507,3	MCF-7	breast:
5	chr5:149829217..149829932-chr7:127032306..127032836,2	Hela-S3	cervix:
6	chr7:127011403..127015656-chr7:127030018..127033626,5	MCF-7	breast:
7	chr7:126892205..126895115-chr7:127030974..127032697,2	MCF-7	breast:
8	chr7:126891429..126894759-chr7:127030328..127033331,3	K562	blood:
9	chr10:88818573..88820601-chr7:127031334..127033710,2	MCF-7	breast:
10	chr17:62971494..62972104-chr7:127032744..127033587,2	HCT-116	colon:
11	chr7:127029920..127034279-chr7:127291168..127294285,4	MCF-7	breast:
12	chr7:127029421..127032644-chr7:127225849..127230043,4	K562	blood:
13	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:
14	chr7:127031743..127033878-chr8:109462577..109465197,2	K562	blood:
15	chr7:127030999..127034277-chr7:127071570..127073569,4	K562	blood:
16	chr7:126980512..126983635-chr7:127032976..127036223,3	K562	blood:
17	chr7:127028627..127034604-chr7:127290902..127294330,10	K562	blood:
18	chr17:57914420..57916265-chr7:127031107..127033179,2	MCF-7	breast:
19	chr7:127029926..127034103-chr7:127290516..127296284,10	K562	blood:
20	chr17:80249999..80250802-chr7:127032311..127032883,2	Hela-S3	cervix:
21	chr10:101380696..101381430-chr7:127032220..127032848,2	Hela-S3	cervix:
22	chr7:126892951..126894660-chr7:127031651..127034423,2	MCF-7	breast:
23	chr1:148240966..148241528-chr7:127032372..127032892,2	Hela-S3	cervix:
24	chr16:30406383..30407257-chr7:127032814..127033615,2	NB4	blood:
25	chr7:124568199..124570049-chr7:127030538..127032262,2	K562	blood:
26	chr14:102553303..102554240-chr7:127032162..127032878,2	NB4	blood:
27	chr7:126890989..126892929-chr7:127030143..127031828,2	K562	blood:
28	chr7:126987100..126989492-chr7:127030062..127031935,2	K562	blood:

No data

Variant related genes	Relation type
ZNF800	TF binding region
ZNF800	CpG island
ENSG00000224138	chromatin interactions
ENSG00000179562	chromatin interactions
ENSG00000265692	chromatin interactions
ENSG00000004059	chromatin interactions
ENSG00000197157	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000148672	chromatin interactions
ENSG00000128513	chromatin interactions
ENSG00000179603	chromatin interactions
ENSG00000080824	chromatin interactions
ENSG00000260475	chromatin interactions
ENSG00000104412	chromatin interactions
ENSG00000048405	chromatin interactions
ENSG00000214174	chromatin interactions
ENSG00000164587	chromatin interactions
ENSG00000240790	chromatin interactions
ENSG00000224897	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000062716	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563090104	chr7:127031593-127031594	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs530548972	chr7:127031618-127031619	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs371776224	chr7:127031625-127031626	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs200317608	chr7:127031636-127031637	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs375960751	chr7:127031648-127031649	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs551950627	chr7:127031662-127031663	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs375745229	chr7:127031666-127031667	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs374655208	chr7:127031688-127031689	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs144065149	chr7:127031714-127031715	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs528201075	chr7:127031719-127031720	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs78921837	chr7:127031729-127031730	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs28439181	chr7:127031847-127031848	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs535736462	chr7:127031852-127031853	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs551261975	chr7:127031859-127031860	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs569132402	chr7:127031881-127031882	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs539839286	chr7:127031892-127031893	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs28729203	chr7:127031917-127031918	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373250125	chr7:127031982-127031983	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs566964834	chr7:127031993-127031994	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs534328644	chr7:127032043-127032044	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs553161098	chr7:127032105-127032106	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs144396858	chr7:127032133-127032134	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs574577573	chr7:127032154-127032155	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs541729811	chr7:127032269-127032270	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs557237635	chr7:127032330-127032331	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs575483712	chr7:127032345-127032346	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs545371909	chr7:127032363-127032364	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs563786774	chr7:127032383-127032384	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs528165782	chr7:127032421-127032422	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs539950830	chr7:127032431-127032432	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs11539276	chr7:127032453-127032454	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs140854379	chr7:127032456-127032457	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs190726833	chr7:127032463-127032464	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs114848317	chr7:127032477-127032478	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs533499363	chr7:127032480-127032481	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs551788056	chr7:127032509-127032510	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs2269728	chr7:127032580-127032581	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1057454	chr7:127032599-127032600	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs555918367	chr7:127032621-127032622	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs71578227	chr7:127032653-127032654	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2269729	chr7:127032663-127032664	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556904810	chr7:127032720-127032721	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs575492565	chr7:127032802-127032803	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs6956825	chr7:127032807-127032808	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs557291578	chr7:127032821-127032822	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs572510831	chr7:127032871-127032872	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs539914931	chr7:127032876-127032877	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs561838982	chr7:127032912-127032913	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs113597121	chr7:127032941-127032942	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs529017120	chr7:127033020-127033021	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Autism	22495311	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
Endometrioid adenocarcinoma	16974079	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
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127023800-127031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:127030200-127032000	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr7:127030400-127031600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:127030400-127031800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:127030400-127031800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
6	chr7:127030600-127032000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:127030800-127033000	Active TSS	HMEC	breast
8	chr7:127030800-127033200	Active TSS	GM12878-XiMat	blood
9	chr7:127031000-127031600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:127031000-127031600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr7:127031000-127031600	Flanking Active TSS	Osteobl	bone
12	chr7:127031000-127031800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr7:127031000-127031800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr7:127031000-127031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:127031000-127031800	Flanking Active TSS	HUVEC	blood vessel
16	chr7:127031000-127031800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr7:127031000-127033200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:127031000-127033200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:127031200-127031600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:127031200-127031600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:127031200-127031600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:127031200-127031600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr7:127031200-127031600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr7:127031200-127031600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:127031200-127031600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr7:127031200-127031600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:127031200-127031600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr7:127031200-127031600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr7:127031200-127031600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr7:127031200-127031600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:127031200-127031600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:127031200-127031600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:127031200-127031600	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr7:127031200-127031600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr7:127031200-127031600	Transcr. at gene 5' and 3'	K562	blood
36	chr7:127031200-127031600	Flanking Active TSS	NH-A	brain
37	chr7:127031200-127031600	Flanking Active TSS	NHDF-Ad	bronchial
38	chr7:127031200-127031600	Flanking Active TSS	NHLF	lung
39	chr7:127031200-127031800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr7:127031200-127031800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr7:127031200-127031800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:127031200-127031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:127031200-127031800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:127031200-127031800	Flanking Active TSS	Liver	Liver
45	chr7:127031200-127031800	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr7:127031200-127031800	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr7:127031200-127031800	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr7:127031200-127031800	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr7:127031200-127031800	Flanking Active TSS	Fetal Brain Female	brain
50	chr7:127031200-127031800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links