Variant report

Variant	esv3441780
Chromosome Location	chr9:100745156-100748104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1151)
CpG islands
(count:549)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1151 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:100745000-100745725	K562	blood:	n/a	n/a
2	ARID3A	chr9:100746570-100746688	K562	blood:	n/a	n/a
3	ATF1	chr9:100745214-100745760	K562	blood:	n/a	n/a
4	ATF2	chr9:100744922-100745594	GM12878	blood:	n/a	n/a
5	ATF2	chr9:100745135-100745458	GM12878	blood:	n/a	n/a
6	ATF3	chr9:100746997-100747286	K562	blood:	n/a	n/a
7	ATF3	chr9:100746905-100747336	K562	blood:	n/a	chr9:100746985-100746994
8	ATF3	chr9:100745156-100745627	K562	blood:	n/a	n/a
9	BACH1	chr9:100746601-100747750	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr9:100746985-100747284	K562	blood:	n/a	n/a
11	BACH1	chr9:100744598-100746242	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL11A	chr9:100747346-100747596	GM12878	blood:	n/a	chr9:100747431-100747444 chr9:100747384-100747397
13	BCL3	chr9:100746380-100746939	GM12878	blood:	n/a	chr9:100746556-100746565 chr9:100746848-100746861
14	BCL3	chr9:100745015-100745834	A549	lung:	n/a	chr9:100745725-100745734 chr9:100745713-100745726 chr9:100745789-100745802 chr9:100745716-100745729 chr9:100745792-100745801 chr9:100745786-100745795
15	BCL3	chr9:100746950-100747393	GM12878	blood:	n/a	chr9:100746984-100746993
16	BCL3	chr9:100745143-100745796	GM12878	blood:	n/a	chr9:100745725-100745734 chr9:100745713-100745726 chr9:100745716-100745729 chr9:100745786-100745795
17	BCL3	chr9:100746948-100747323	GM12878	blood:	n/a	chr9:100746984-100746993
18	BCLAF1	chr9:100746272-100747546	K562	blood:	n/a	chr9:100746556-100746565 chr9:100747431-100747444 chr9:100746984-100746993 chr9:100747384-100747397 chr9:100746848-100746861
19	BCLAF1	chr9:100746483-100747364	GM12878	blood:	n/a	chr9:100746556-100746565 chr9:100746984-100746993 chr9:100746848-100746861
20	BCLAF1	chr9:100744925-100745765	GM12878	blood:	n/a	chr9:100745725-100745734 chr9:100745713-100745726 chr9:100745716-100745729
21	BCLAF1	chr9:100745005-100745792	GM12878	blood:	n/a	chr9:100745725-100745734 chr9:100745713-100745726 chr9:100745716-100745729
22	BCLAF1	chr9:100745023-100745830	K562	blood:	n/a	chr9:100745725-100745734 chr9:100745713-100745726 chr9:100745789-100745802 chr9:100745716-100745729 chr9:100745792-100745801 chr9:100745786-100745795
23	BCLAF1	chr9:100745838-100747293	GM12878	blood:	n/a	chr9:100746556-100746565 chr9:100745946-100745959 chr9:100745980-100745993 chr9:100746984-100746993 chr9:100746848-100746861 chr9:100746033-100746042
24	BHLHE40	chr9:100745054-100748035	GM12878	blood:	n/a	chr9:100746842-100746858 chr9:100747387-100747403 chr9:100747386-100747402
25	BHLHE40	chr9:100747623-100747864	K562	blood:	n/a	n/a
26	BHLHE40	chr9:100745032-100745787	HepG2	liver:	n/a	n/a
27	BHLHE40	chr9:100746629-100747376	K562	blood:	n/a	chr9:100746842-100746858
28	BHLHE40	chr9:100744939-100746214	K562	blood:	n/a	n/a
29	BRCA1	chr9:100745348-100745648	HepG2	liver:	n/a	n/a
30	BRCA1	chr9:100745001-100745187	GM12878	blood:	n/a	n/a
31	BRCA1	chr9:100746716-100747071	HepG2	liver:	n/a	n/a
32	BRCA1	chr9:100745118-100745462	Hela-S3	cervix:	n/a	n/a
33	CBX3	chr9:100747361-100747938	K562	blood:	n/a	n/a
34	CBX3	chr9:100746407-100746818	K562	blood:	n/a	n/a
35	CBX3	chr9:100744927-100745764	K562	blood:	n/a	n/a
36	CBX3	chr9:100746875-100747956	K562	blood:	n/a	n/a
37	CCNT2	chr9:100744860-100747806	K562	blood:	n/a	chr9:100747073-100747082
38	CEBPB	chr9:100745446-100745615	HepG2	liver:	n/a	n/a
39	CEBPB	chr9:100745969-100746311	MCF-7	breast:	n/a	n/a
40	CEBPB	chr9:100745225-100745517	K562	blood:	n/a	n/a
41	CEBPB	chr9:100746051-100746870	HepG2	liver:	n/a	n/a
42	CEBPB	chr9:100745196-100745504	A549	lung:	n/a	n/a
43	CEBPB	chr9:100746084-100746327	HepG2	liver:	n/a	n/a
44	CEBPB	chr9:100746427-100746742	MCF-7	breast:	n/a	n/a
45	CEBPB	chr9:100745231-100745481	A549	lung:	n/a	n/a
46	CEBPB	chr9:100746357-100746791	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr9:100746030-100746740	HepG2	liver:	n/a	n/a
48	CEBPB	chr9:100746400-100746828	MCF-7	breast:	n/a	n/a
49	CEBPB	chr9:100746433-100746790	A549	lung:	n/a	n/a
50	CEBPB	chr9:100745171-100747925	Hela-S3	cervix:	n/a	chr9:100747295-100747312

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:100747559-100747609	HIPEpiC	eye:	n/a
2	chr9:100745159-100745209	GM12878	blood:	n/a
3	chr9:100747559-100747609	HRE	kidney:	n/a
4	chr9:100747559-100747609	NT2-D1	testis:	n/a
5	chr9:100747767-100747817	HCF	heart:	n/a
6	chr9:100746569-100746619	PANC-1	pancreas:	n/a
7	chr9:100746569-100746619	MCF-7	breast:	n/a
8	chr9:100746253-100746303	AG10803	skin:	n/a
9	chr9:100747559-100747609	RPTEC	kidney:	n/a
10	chr9:100746253-100746303	GM06990	blood:	n/a
11	chr9:100745975-100746025	Hepatocyte	liver:	n/a
12	chr9:100746253-100746303	CMK	blood:	n/a
13	chr9:100745159-100745209	HRPEpiC	eye:	n/a
14	chr9:100746569-100746619	Caco-2	colon:	n/a
15	chr9:100747767-100747817	MCF-7	breast:	n/a
16	chr9:100745139-100745189	HEK293	kidney:	embryo
17	chr9:100747767-100747817	HL-60	blood:	n/a
18	chr9:100745354-100745404	A549	lung:	n/a
19	chr9:100745159-100745209	AG10803	skin:	n/a
20	chr9:100746253-100746303	Caco-2	colon:	n/a
21	chr9:100747559-100747609	Hela-S3	cervix:	n/a
22	chr9:100747473-100747523	U87	brain:	n/a
23	chr9:100747559-100747609	GM06990	blood:	n/a
24	chr9:100745159-100745209	U87	brain:	n/a
25	chr9:100745354-100745404	PANC-1	pancreas:	n/a
26	chr9:100746569-100746619	CMK	blood:	n/a
27	chr9:100745139-100745189	IMR90	lung:	fetal
28	chr9:100746253-100746303	ProgFib	skin:	n/a
29	chr9:100746253-100746303	U87	brain:	n/a
30	chr9:100747767-100747817	ECC-1	luminal epithelium:	n/a
31	chr9:100745354-100745404	HCPEpiC	choroid plexus:	n/a
32	chr9:100745354-100745404	H1-hESC	embryonic stem cell:	embryo
33	chr9:100746253-100746303	AG04449	skin:	fetal
34	chr9:100745975-100746025	SKMC	muscle:	n/a
35	chr9:100746569-100746619	ECC-1	luminal epithelium:	n/a
36	chr9:100746253-100746303	SK-N-MC	brain:	n/a
37	chr9:100745159-100745209	PFSK-1	brain:	n/a
38	chr9:100745975-100746025	NHDF-neo	bronchial:	n/a
39	chr9:100745354-100745404	HAEpiC	amniotic membrane:	n/a
40	chr9:100745159-100745209	Caco-2	colon:	n/a
41	chr9:100747473-100747523	NB4	blood:	n/a
42	chr9:100747559-100747609	HCM	heart:	n/a
43	chr9:100746569-100746619	HEEpiC	esophagus:	n/a
44	chr9:100746569-100746619	NT2-D1	testis:	n/a
45	chr9:100746253-100746303	RPTEC	kidney:	n/a
46	chr9:100747473-100747523	PrEC	prostate:	n/a
47	chr9:100746569-100746619	HepG2	liver:	n/a
48	chr9:100747473-100747523	GM12878	blood:	n/a
49	chr9:100746253-100746303	LNCaP	prostate:	n/a
50	chr9:100747559-100747609	HUVEC	blood vessel:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:86019469..86022152-chr9:100745432..100747844,2	MCF-7	breast:
2	chr22:31741916..31742662-chr9:100745388..100746260,2	Hela-S3	cervix:
3	chr10:75006711..75007399-chr9:100747059..100747804,2	Hela-S3	cervix:
4	chr9:100746762..100748663-chr9:100996503..100998801,2	MCF-7	breast:
5	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
6	chr6:34204437..34204948-chr9:100745047..100745884,2	HCT-116	colon:
7	chr9:100746284..100748016-chr9:100953069..100955569,2	MCF-7	breast:
8	chr9:100685626..100686321-chr9:100744853..100745599,2	MCF-7	breast:
9	chr9:100746007..100747769-chr9:100880971..100883349,2	MCF-7	breast:
10	chr9:100393798..100396909-chr9:100744219..100748139,5	MCF-7	breast:
11	chr9:100705963..100708319-chr9:100744697..100747203,2	MCF-7	breast:
12	chr9:100744471..100747062-chr9:100817673..100820807,4	MCF-7	breast:
13	chr9:100744384..100747791-chr9:101014978..101019057,4	MCF-7	breast:
14	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
15	chr11:1770145..1772134-chr9:100745405..100747751,2	MCF-7	breast:
16	chr9:100745249..100747545-chr9:100817221..100819862,3	K562	blood:
17	chr12:7050893..7053745-chr9:100745089..100746721,2	MCF-7	breast:
18	chr9:100747093..100749560-chr9:100817849..100820641,3	MCF-7	breast:
19	chr9:100744956..100747904-chr9:100835369..100837055,2	K562	blood:
20	chr14:34417944..34420786-chr9:100744880..100747851,2	MCF-7	breast:
21	chr9:100682029..100688801-chr9:100740969..100749393,29	MCF-7	breast:
22	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
23	chr9:100743877..100746388-chr9:123637926..123639429,2	K562	blood:
24	chr9:100458946..100460891-chr9:100746178..100747740,2	MCF-7	breast:
25	chr9:100747573..100749679-chr9:100818342..100820607,2	K562	blood:
26	chr9:100742340..100750312-chr9:100816953..100823782,17	MCF-7	breast:
27	chr9:100395301..100398247-chr9:100745097..100747092,2	MCF-7	breast:
28	chr17:66286131..66288526-chr9:100744742..100747480,2	MCF-7	breast:
29	chr9:100747352..100749216-chr9:100789908..100792300,2	K562	blood:
30	chr9:100437101..100439123-chr9:100743935..100746928,2	K562	blood:
31	chr9:100745095..100746036-chr9:125667296..125667841,2	Hela-S3	cervix:
32	chr9:100461133..100463354-chr9:100744707..100746870,2	MCF-7	breast:
33	chr13:96566533..96568077-chr9:100747317..100749032,2	MCF-7	breast:
34	chr9:100394431..100399065-chr9:100743200..100747046,6	K562	blood:
35	chr9:100744956..100747210-chr9:100835059..100837055,2	K562	blood:
36	chr9:100395236..100396868-chr9:100743200..100745382,2	K562	blood:
37	chr9:100674231..100678302-chr9:100744904..100747134,4	MCF-7	breast:
38	chr9:99179878..99181441-chr9:100745582..100747137,2	K562	blood:
39	chr9:100743079..100747890-chr9:100817276..100822371,7	K562	blood:
40	chr9:100745634..100748414-chr9:100792592..100795011,2	MCF-7	breast:
41	chr6:86303002..86303617-chr9:100745459..100746459,2	Hela-S3	cervix:
42	chr9:100744716..100748585-chr9:100832900..100838437,10	MCF-7	breast:
43	chr9:100745588..100746574-chrX:153626316..153627256,2	Hela-S3	cervix:
44	chr9:100745732..100748566-chr9:100835046..100837989,2	MCF-7	breast:
45	chr11:64072524..64073316-chr9:100745879..100746665,2	Hela-S3	cervix:
46	chr9:100747508..100749189-chr9:100765582..100767848,2	MCF-7	breast:
47	chr1:24286212..24286783-chr9:100746462..100747243,2	HCT-116	colon:

No data

Variant related genes	Relation type
ANP32B	TF binding region
ANP32B	CpG island
ENSG00000129521	chromatin interactions
ENSG00000136937	chromatin interactions
ENSG00000231521	chromatin interactions
ENSG00000133739	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000106785	chromatin interactions
ENSG00000165244	chromatin interactions
ENSG00000224001	chromatin interactions
ENSG00000136929	chromatin interactions
ENSG00000135317	chromatin interactions
ENSG00000108932	chromatin interactions
ENSG00000136925	chromatin interactions
ENSG00000056586	chromatin interactions
ENSG00000189266	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000212521	chromatin interactions
ENSG00000244242	chromatin interactions
ENSG00000236756	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000141337	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000201830	chromatin interactions
ENSG00000106789	chromatin interactions
ENSG00000136936	chromatin interactions
ENSG00000136932	chromatin interactions
ENSG00000095383	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000214417	chromatin interactions
ENSG00000266608	chromatin interactions
ENSG00000119403	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000100105	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148880608	chr9:100745168-100745169	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs199711266	chr9:100745287-100745288	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
3	rs527875919	chr9:100745321-100745322	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
4	rs559387563	chr9:100745327-100745328	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
5	rs567749946	chr9:100745342-100745343	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
6	rs182172825	chr9:100745409-100745410	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
7	rs375784134	chr9:100745424-100745425	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
8	rs571279948	chr9:100745435-100745436	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
9	rs535918331	chr9:100745443-100745444	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
10	rs538573813	chr9:100745602-100745603	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
11	rs553634567	chr9:100745609-100745610	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
12	rs116897480	chr9:100745613-100745614	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
13	rs536445212	chr9:100745627-100745628	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
14	rs532415063	chr9:100745640-100745641	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
15	rs554420834	chr9:100745671-100745672	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
16	rs576096938	chr9:100745721-100745722	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
17	rs543119443	chr9:100745723-100745724	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
18	rs564899483	chr9:100745763-100745764	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
19	rs3739673	chr9:100745765-100745766	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
20	rs545752620	chr9:100745773-100745774	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
21	rs560762108	chr9:100745786-100745787	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
22	rs370788415	chr9:100745794-100745795	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
23	rs527931779	chr9:100745833-100745834	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
24	rs374378445	chr9:100745881-100745882	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
25	rs3739672	chr9:100745902-100745903	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs561290011	chr9:100745905-100745906	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
27	rs77249114	chr9:100745911-100745912	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
28	rs373994803	chr9:100745915-100745916	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
29	rs549839618	chr9:100745917-100745918	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
30	rs571341218	chr9:100745923-100745924	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
31	rs538639728	chr9:100745924-100745925	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
32	rs547335998	chr9:100745934-100745935	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
33	rs565641095	chr9:100745953-100745954	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
34	rs536116718	chr9:100745970-100745971	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
35	rs142856859	chr9:100745982-100745983	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
36	rs576132362	chr9:100745983-100745984	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
37	rs537179212	chr9:100746014-100746015	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
38	rs558672953	chr9:100746019-100746020	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
39	rs576958684	chr9:100746021-100746022	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
40	rs150311281	chr9:100746024-100746025	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
41	rs541028935	chr9:100746041-100746042	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
42	rs559348650	chr9:100746042-100746043	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
43	rs35230874	chr9:100746085-100746086	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
44	rs557370938	chr9:100746091-100746092	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
45	rs542922789	chr9:100746100-100746101	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
46	rs561558147	chr9:100746106-100746107	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
47	rs531795591	chr9:100746185-100746186	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
48	rs367790146	chr9:100746210-100746211	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
49	rs549902713	chr9:100746288-100746289	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
50	rs565036608	chr9:100746298-100746299	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100740600-100745600	Enhancers	Fetal Brain Male	brain
2	chr9:100743800-100745200	Flanking Active TSS	Fetal Thymus	thymus
3	chr9:100744000-100747800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr9:100744200-100745200	Flanking Active TSS	GM12878-XiMat	blood
5	chr9:100744200-100745400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr9:100744200-100747800	Active TSS	Fetal Brain Female	brain
7	chr9:100744400-100745200	Flanking Active TSS	Dnd41	blood
8	chr9:100744400-100745400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:100744400-100745400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr9:100744400-100745400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr9:100744400-100745400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr9:100744400-100745400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:100744400-100747800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr9:100744600-100745200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:100744600-100745200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr9:100744600-100745200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr9:100744600-100745200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr9:100744600-100745200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr9:100744600-100745200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:100744600-100745200	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr9:100744600-100745200	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr9:100744600-100745200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr9:100744600-100745200	Flanking Active TSS	NH-A	brain
24	chr9:100744600-100745400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr9:100744600-100745400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr9:100744600-100745400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr9:100744600-100745400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr9:100744600-100745400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:100744600-100745400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:100744600-100745400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr9:100744600-100745400	Flanking Active TSS	Colonic Mucosa	Colon
32	chr9:100744600-100745400	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr9:100744600-100745400	Flanking Active TSS	HMEC	breast
34	chr9:100744600-100745400	Flanking Active TSS	HUVEC	blood vessel
35	chr9:100744600-100745400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr9:100744600-100745600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:100744600-100747400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:100744600-100747400	Active TSS	Psoas Muscle	Psoas
39	chr9:100744600-100747400	Active TSS	Osteobl	bone
40	chr9:100744600-100747600	Active TSS	A549	lung
41	chr9:100744600-100747600	Active TSS	HSMMtube	muscle
42	chr9:100744600-100747600	Active TSS	NHDF-Ad	bronchial
43	chr9:100744600-100747800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:100744600-100747800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr9:100744600-100747800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr9:100744600-100748000	Active TSS	Brain Angular Gyrus	brain
47	chr9:100744600-100748000	Active TSS	NHLF	lung
48	chr9:100744600-100748600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:100744800-100745200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:100744800-100745200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links