Variant report

Variant	esv3329388
Chromosome Location	chr7:100023441-100025989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:571)
CpG islands
(count:122)
Chromatin interactive
region (count:109)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:571 , 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	chr7:100025603-100027132	K562	blood:	n/a	chr7:100025862-100025870
2	ARID3A	chr7:100025812-100027184	HepG2	liver:	n/a	chr7:100025862-100025870
3	ATF1	chr7:100025835-100027203	K562	blood:	n/a	chr7:100026892-100026906
4	ATF2	chr7:100025628-100027248	H1-hESC	embryonic stem cell:	n/a	chr7:100026892-100026906
5	ATF2	chr7:100025645-100027742	GM12878	blood:	n/a	chr7:100026892-100026906
6	ATF2	chr7:100025676-100027312	GM12878	blood:	n/a	chr7:100026892-100026906
7	ATF2	chr7:100025636-100027637	H1-hESC	embryonic stem cell:	n/a	chr7:100026892-100026906
8	ATF3	chr7:100025721-100027216	A549	lung:	n/a	chr7:100026893-100026906 chr7:100026924-100026933
9	ATF3	chr7:100025832-100026285	K562	blood:	n/a	n/a
10	ATF3	chr7:100025667-100027282	A549	lung:	n/a	chr7:100026893-100026906 chr7:100026924-100026933
11	BACH1	chr7:100025708-100027718	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr7:100025621-100026156	K562	blood:	n/a	n/a
13	BCL3	chr7:100025545-100027842	A549	lung:	n/a	chr7:100026065-100026078 chr7:100025818-100025831 chr7:100026063-100026076 chr7:100026739-100026748
14	BCLAF1	chr7:100025618-100028091	K562	blood:	n/a	chr7:100026065-100026078 chr7:100025818-100025831 chr7:100026063-100026076 chr7:100026739-100026748
15	BCLAF1	chr7:100025636-100027566	K562	blood:	n/a	chr7:100026065-100026078 chr7:100025818-100025831 chr7:100026063-100026076 chr7:100026739-100026748
16	BCLAF1	chr7:100025664-100028470	GM12878	blood:	n/a	chr7:100026065-100026078 chr7:100025818-100025831 chr7:100026063-100026076 chr7:100026739-100026748
17	BCLAF1	chr7:100025590-100027217	GM12878	blood:	n/a	chr7:100026065-100026078 chr7:100025818-100025831 chr7:100026063-100026076 chr7:100026739-100026748
18	BHLHE40	chr7:100025849-100027685	HepG2	liver:	n/a	chr7:100026063-100026079
19	BHLHE40	chr7:100025642-100027714	K562	blood:	n/a	chr7:100026063-100026079
20	BHLHE40	chr7:100025725-100028316	GM12878	blood:	n/a	chr7:100026063-100026079
21	BRCA1	chr7:100025890-100027655	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr7:100025805-100027669	GM12878	blood:	n/a	n/a
23	BRCA1	chr7:100025894-100027641	H1-hESC	embryonic stem cell:	n/a	n/a
24	CBX3	chr7:100025346-100026214	K562	blood:	n/a	n/a
25	CBX3	chr7:100025404-100028159	HCT-116	colon:	n/a	n/a
26	CBX3	chr7:100025288-100027711	K562	blood:	n/a	n/a
27	CCNT2	chr7:100025734-100028158	K562	blood:	n/a	chr7:100026842-100026851 chr7:100026924-100026933
28	CEBPB	chr7:100025826-100027215	Hela-S3	cervix:	n/a	chr7:100026877-100026888
29	CEBPB	chr7:100025668-100026217	K562	blood:	n/a	n/a
30	CEBPB	chr7:100025796-100027221	A549	lung:	n/a	chr7:100026877-100026888
31	CEBPB	chr7:100025734-100026122	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr7:100025797-100026157	K562	blood:	n/a	n/a
33	CEBPD	chr7:100025553-100028942	K562	blood:	n/a	n/a
34	CEBPD	chr7:100025883-100027651	K562	blood:	n/a	n/a
35	CHD1	chr7:100025436-100028825	IMR90	lung:	n/a	chr7:100026925-100026935
36	CHD1	chr7:100025912-100028520	GM12878	blood:	n/a	chr7:100026925-100026935
37	CHD2	chr7:100025698-100028461	GM12878	blood:	n/a	chr7:100026925-100026935
38	CHD2	chr7:100025712-100028150	K562	blood:	n/a	chr7:100026925-100026935
39	CHD2	chr7:100025727-100027696	H1-hESC	embryonic stem cell:	n/a	chr7:100026925-100026935
40	CHD2	chr7:100025792-100027742	HepG2	liver:	n/a	chr7:100026925-100026935
41	CHD2	chr7:100025752-100028007	Hela-S3	cervix:	n/a	chr7:100026925-100026935
42	CREB1	chr7:100025609-100028274	HepG2	liver:	n/a	n/a
43	CREB1	chr7:100025523-100028201	K562	blood:	n/a	n/a
44	CREB1	chr7:100025684-100026640	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr7:100025613-100028437	GM12878	blood:	n/a	n/a
46	CREB1	chr7:100025672-100026577	A549	lung:	n/a	n/a
47	CREB1	chr7:100025658-100027622	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr7:100025648-100027823	HepG2	liver:	n/a	n/a
49	CREB1	chr7:100025841-100026552	A549	lung:	n/a	n/a
50	CTCF	chr7:100025840-100025990	GM12874	blood:	n/a	chr7:100025909-100025922

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100024898-100024948	IMR90	lung:	fetal
2	chr7:100024898-100024948	AG09309	skin:	n/a
3	chr7:100024898-100024948	ovcar-3	ovarian:	n/a
4	chr7:100024898-100024948	NB4	blood:	n/a
5	chr7:100025868-100025918	Jurkat	blood:	n/a
6	chr7:100025868-100025918	RPTEC	kidney:	n/a
7	chr7:100025868-100025918	GM06990	blood:	n/a
8	chr7:100025868-100025918	HL-60	blood:	n/a
9	chr7:100024898-100024948	HCT-116	colon:	n/a
10	chr7:100024898-100024948	MCF-7	breast:	n/a
11	chr7:100024898-100024948	HCF	heart:	n/a
12	chr7:100025868-100025918	HepG2	liver:	n/a
13	chr7:100025868-100025918	HMEC	breast:	n/a
14	chr7:100024898-100024948	HRE	kidney:	n/a
15	chr7:100024898-100024948	GM12891	blood:	n/a
16	chr7:100024898-100024948	AG09319	gingival:	n/a
17	chr7:100025868-100025918	BJ	skin:	n/a
18	chr7:100024898-100024948	NHDF-neo	bronchial:	n/a
19	chr7:100025868-100025918	HRPEpiC	eye:	n/a
20	chr7:100025868-100025918	SK-N-SH	brain:	n/a
21	chr7:100025868-100025918	BE2_C	brain:	n/a
22	chr7:100024898-100024948	HepG2	liver:	n/a
23	chr7:100025868-100025918	Hepatocyte	liver:	n/a
24	chr7:100025868-100025918	MCF-7	breast:	n/a
25	chr7:100025868-100025918	SK-N-MC	brain:	n/a
26	chr7:100025868-100025918	NB4	blood:	n/a
27	chr7:100024898-100024948	HIPEpiC	eye:	n/a
28	chr7:100025868-100025918	HPAEpiC	pulmonary alveolar:	n/a
29	chr7:100024898-100024948	HCPEpiC	choroid plexus:	n/a
30	chr7:100025868-100025918	PFSK-1	brain:	n/a
31	chr7:100024898-100024948	H1-hESC	embryonic stem cell:	embryo
32	chr7:100024898-100024948	PANC-1	pancreas:	n/a
33	chr7:100025868-100025918	Caco-2	colon:	n/a
34	chr7:100025868-100025918	H1-hESC	embryonic stem cell:	embryo
35	chr7:100024898-100024948	HEEpiC	esophagus:	n/a
36	chr7:100024898-100024948	AG04450	lung:	fetal
37	chr7:100024898-100024948	RPTEC	kidney:	n/a
38	chr7:100025868-100025918	GM12892	blood:	n/a
39	chr7:100024898-100024948	HRCEpiC	kidney:	n/a
40	chr7:100024898-100024948	HAEpiC	amniotic membrane:	n/a
41	chr7:100024898-100024948	NT2-D1	testis:	n/a
42	chr7:100025868-100025918	AG04449	skin:	fetal
43	chr7:100025868-100025918	AoSMC	blood vessel:	n/a
44	chr7:100025868-100025918	NHBE	bronchial:	n/a
45	chr7:100025868-100025918	HIPEpiC	eye:	n/a
46	chr7:100025868-100025918	PrEC	prostate:	n/a
47	chr7:100025868-100025918	HNPCEpiC	eye:	n/a
48	chr7:100024898-100024948	A549	lung:	n/a
49	chr7:100025868-100025918	ECC-1	luminal epithelium:	n/a
50	chr7:100024898-100024948	NHBE	bronchial:	n/a

(count:109 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:145382627..145383409-chr7:100025751..100026749,3	Hela-S3	cervix:
2	chr7:100024516..100026521-chr7:100183469..100186366,2	MCF-7	breast:
3	chr7:100025028..100029218-chr7:100206824..100213289,7	K562	blood:
4	chr11:61583594..61584300-chr7:100025966..100026916,3	Hela-S3	cervix:
5	chr6:30710080..30710745-chr7:100025969..100026517,2	Hela-S3	cervix:
6	chr7:100022010..100030260-chr7:100068697..100082544,31	K562	blood:
7	chr3:112359858..112360411-chr7:100025644..100026612,2	Hela-S3	cervix:
8	chr7:100024866..100028113-chr7:100485356..100489963,5	MCF-7	breast:
9	chr7:100025645..100028263-chr7:100208101..100209907,2	K562	blood:
10	chr7:100025040..100027512-chr7:100201980..100203554,3	K562	blood:
11	chr7:99997991..100000761-chr7:100021561..100024179,2	K562	blood:
12	chr7:99697112..99700279-chr7:100024243..100028129,6	MCF-7	breast:
13	chr7:99677846..99681399-chr7:100025174..100029012,4	K562	blood:
14	chr20:47662860..47663424-chr7:100025812..100026750,2	NB4	blood:
15	chr7:100025959..100027512-chr7:100064951..100067797,2	MCF-7	breast:
16	chr17:37356299..37357107-chr7:100025822..100026776,2	Hela-S3	cervix:
17	chr17:56708770..56709501-chr7:100025787..100026461,2	NB4	blood:
18	chr7:100025315..100028678-chr7:100237515..100241293,6	K562	blood:
19	chr15:69745041..69745918-chr7:100025844..100026520,2	NB4	blood:
20	chr7:99695452..99699124-chr7:100025277..100027831,3	MCF-7	breast:
21	chr11:67273139..67273801-chr7:100025739..100026564,2	Hela-S3	cervix:
22	chr7:100024823..100028490-chr7:100199635..100204792,9	MCF-7	breast:
23	chr7:100025040..100028858-chr7:100198464..100203953,10	K562	blood:
24	chr7:99756236..99758894-chr7:100025899..100028598,2	K562	blood:
25	chr7:100024854..100029212-chr7:100238393..100241596,5	K562	blood:
26	chr7:98972239..98973814-chr7:100025905..100028076,2	K562	blood:
27	chr7:100025583..100035841-chr7:100071553..100080023,19	MCF-7	breast:
28	chr7:99932349..99935076-chr7:100025979..100028387,3	K562	blood:
29	chr7:99796687..99799289-chr7:100025322..100027560,2	K562	blood:
30	chr7:99677060..99680949-chr7:100024846..100027547,5	MCF-7	breast:
31	chr5:43121611..43122143-chr7:100025785..100026718,2	Hela-S3	cervix:
32	chr20:62150920..62153438-chr7:100025930..100028623,2	MCF-7	breast:
33	chr7:99744731..99747065-chr7:100025501..100027244,2	MCF-7	breast:
34	chr20:60961950..60962457-chr7:100025953..100026869,2	NB4	blood:
35	chr7:100014519..100016131-chr7:100025765..100027898,2	MCF-7	breast:
36	chr14:90863251..90863952-chr7:100025800..100026571,2	HCT-116	colon:
37	chr7:100009832..100015861-chr7:100024427..100028524,9	MCF-7	breast:
38	chr7:99754046..99756900-chr7:100023826..100027525,3	MCF-7	breast:
39	chr7:100025648..100028089-chr7:100060408..100062284,2	K562	blood:
40	chr7:100025223..100027930-chr7:100471250..100474138,3	MCF-7	breast:
41	chr7:100024499..100027894-chr7:100208680..100211740,5	MCF-7	breast:
42	chr7:100025394..100027753-chr7:100083399..100085639,3	MCF-7	breast:
43	chr7:100004091..100007847-chr7:100024893..100029911,8	MCF-7	breast:
44	chr7:100025231..100027840-chr7:100303669..100306614,3	K562	blood:
45	chr19:58891969..58892854-chr7:100025957..100026947,2	NB4	blood:
46	chr7:99035477..99037165-chr7:100025272..100027414,2	K562	blood:
47	chr7:100025253..100027906-chr7:100472891..100474745,2	K562	blood:
48	chr7:99743864..99749368-chr7:100025322..100029105,6	K562	blood:
49	chr2:88315409..88316077-chr7:100025484..100026170,2	NB4	blood:
50	chr7:99697437..99703178-chr7:100024624..100029482,10	K562	blood:

No data

Variant related genes	Relation type
MEPCE	TF binding region
MEPCE	CpG island
ENSG00000005483	chromatin interactions
ENSG00000112242	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000225077	chromatin interactions
ENSG00000106330	chromatin interactions
ENSG00000125691	chromatin interactions
ENSG00000188186	chromatin interactions
ENSG00000133056	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000116237	chromatin interactions
ENSG00000166508	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000087087	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000264229	chromatin interactions
ENSG00000242294	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000198498	chromatin interactions
ENSG00000264758	chromatin interactions
ENSG00000134824	chromatin interactions
ENSG00000214253	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000077232	chromatin interactions
ENSG00000137818	chromatin interactions
ENSG00000085514	chromatin interactions
ENSG00000176125	chromatin interactions
ENSG00000106327	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000137500	chromatin interactions
ENSG00000166526	chromatin interactions
ENSG00000106336	chromatin interactions
ENSG00000198668	chromatin interactions
ENSG00000160917	chromatin interactions
ENSG00000146826	chromatin interactions
ENSG00000066923	chromatin interactions
ENSG00000106351	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000214309	chromatin interactions
ENSG00000151327	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000166997	chromatin interactions
ENSG00000242798	chromatin interactions
ENSG00000169871	chromatin interactions
ENSG00000091986	chromatin interactions
ENSG00000146830	chromatin interactions
ENSG00000255234	chromatin interactions
ENSG00000239569	chromatin interactions
ENSG00000007202	chromatin interactions
ENSG00000185955	chromatin interactions
ENSG00000078319	chromatin interactions
ENSG00000124207	chromatin interactions
ENSG00000224729	chromatin interactions
ENSG00000121716	chromatin interactions
ENSG00000228174	chromatin interactions
ENSG00000236305	chromatin interactions
ENSG00000213420	chromatin interactions
ENSG00000077454	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000266154	chromatin interactions
ENSG00000172500	chromatin interactions
ENSG00000272752	chromatin interactions
ENSG00000004975	chromatin interactions
ENSG00000108298	chromatin interactions
ENSG00000130429	chromatin interactions
ENSG00000146833	chromatin interactions
ENSG00000125534	chromatin interactions
ENSG00000106246	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000146828	chromatin interactions
ENSG00000184414	chromatin interactions
ENSG00000166925	chromatin interactions
ENSG00000077080	chromatin interactions
ENSG00000171766	chromatin interactions
ENSG00000106333	chromatin interactions
ENSG00000074054	chromatin interactions
ENSG00000171858	chromatin interactions
ENSG00000152475	chromatin interactions
ENSG00000106290	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000171763	chromatin interactions
ENSG00000221838	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000166924	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000266372	chromatin interactions
ENSG00000172354	chromatin interactions
ENSG00000087077	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371783547	chr7:100023497-100023498	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs557266141	chr7:100023585-100023586	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs575832938	chr7:100023598-100023599	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs375869279	chr7:100023643-100023644	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs530160765	chr7:100023681-100023682	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs539530928	chr7:100023707-100023708	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs557857659	chr7:100023748-100023749	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs186458192	chr7:100023775-100023776	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs540243041	chr7:100023823-100023824	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs67163493	chr7:100023838-100023839	Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs368834302	chr7:100023839-100023840	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs574641632	chr7:100023843-100023844	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs565238603	chr7:100023874-100023875	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs563326283	chr7:100023918-100023919	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs372118974	chr7:100023933-100023934	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs533276945	chr7:100023955-100023956	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs560722668	chr7:100023987-100023988	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs552276840	chr7:100023988-100023989	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs527908963	chr7:100023998-100023999	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs77998272	chr7:100024115-100024116	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs73403312	chr7:100024153-100024154	Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs189702312	chr7:100024248-100024249	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs369334842	chr7:100024257-100024258	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs546619752	chr7:100024304-100024305	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs540931024	chr7:100024431-100024432	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs71540911	chr7:100024443-100024444	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs570852522	chr7:100024496-100024497	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs543958015	chr7:100024607-100024608	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs551361454	chr7:100024782-100024783	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs568092347	chr7:100024883-100024884	Weak transcription Enhancers	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
31	rs182949275	chr7:100024957-100024958	Weak transcription Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
32	rs377274742	chr7:100024960-100024961	Weak transcription Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
33	rs186274214	chr7:100024972-100024973	Weak transcription Enhancers	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
34	rs569330458	chr7:100024984-100024985	Weak transcription Enhancers	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
35	rs191568744	chr7:100024985-100024986	Weak transcription Enhancers	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
36	rs369331731	chr7:100024998-100024999	Weak transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
37	rs372884994	chr7:100025003-100025004	Weak transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
38	rs183403820	chr7:100025178-100025179	Weak transcription Enhancers	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
39	rs555468154	chr7:100025195-100025196	Weak transcription Enhancers	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
40	rs545292213	chr7:100025217-100025218	Weak transcription Enhancers	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
41	rs369474695	chr7:100025279-100025280	Weak transcription Enhancers	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
42	rs187533707	chr7:100025308-100025309	Weak transcription Enhancers	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
43	rs549307225	chr7:100025321-100025322	Weak transcription Enhancers	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
44	rs117078929	chr7:100025345-100025346	Weak transcription Enhancers	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	mRNA abundance
45	rs549705648	chr7:100025372-100025373	Weak transcription Enhancers	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
46	rs141460009	chr7:100025387-100025388	Weak transcription Enhancers	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
47	rs370905292	chr7:100025389-100025390	Weak transcription Enhancers	TF binding region Chromatin interactive region	44 gene(s)	Overlapped CNVs	n/a
48	rs148957278	chr7:100025410-100025411	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
49	rs557246202	chr7:100025508-100025509	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
50	rs113967749	chr7:100025558-100025559	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	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
Acute lymphoblastic leukemia	21339820	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
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99987800-100025400	Weak transcription	Right Ventricle	heart
2	chr7:99995000-100025400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:99995000-100026000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:99996200-100025400	Weak transcription	Brain Substantia Nigra	brain
5	chr7:99997400-100025600	Weak transcription	Aorta	Aorta
6	chr7:99998800-100025400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:99999000-100025400	Weak transcription	Left Ventricle	heart
8	chr7:99999400-100025400	Weak transcription	Psoas Muscle	Psoas
9	chr7:100000200-100025400	Weak transcription	Liver	Liver
10	chr7:100002800-100025400	Weak transcription	Brain Anterior Caudate	brain
11	chr7:100005400-100024800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:100011600-100026000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:100011800-100025400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:100011800-100025400	Weak transcription	Primary B cells from cord blood	blood
15	chr7:100011800-100025400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:100011800-100025400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:100015000-100025400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:100015000-100025400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:100017000-100025400	Weak transcription	Brain Angular Gyrus	brain
20	chr7:100017400-100025400	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:100017600-100025600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:100017800-100025200	Weak transcription	Osteobl	bone
23	chr7:100017800-100025400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:100017800-100025400	Weak transcription	Adipose Nuclei	Adipose
25	chr7:100017800-100025600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:100018000-100025400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:100018200-100025400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:100019000-100025400	Weak transcription	Fetal Brain Male	brain
29	chr7:100019200-100025400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:100019600-100025400	Weak transcription	HSMMtube	muscle
31	chr7:100020400-100025600	Weak transcription	Fetal Lung	lung
32	chr7:100020600-100025400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:100020600-100025400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:100021000-100025400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:100021200-100025400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:100021400-100024200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:100021800-100025200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:100022000-100025400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:100022000-100025400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:100022200-100025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:100023200-100025400	Weak transcription	GM12878-XiMat	blood
42	chr7:100024200-100024400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr7:100024200-100024400	Enhancers	HSMM	muscle
44	chr7:100024200-100024600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:100024400-100024800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr7:100024400-100024800	Flanking Active TSS	HSMM	muscle
47	chr7:100024600-100024800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:100024600-100025000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:100024600-100025600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr7:100024800-100025600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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