Variant report

Variant	esv3323629
Chromosome Location	chr9:96927556-96930104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:96928165-96928645	K562	blood:	n/a	chr9:96928579-96928591
2	ARID3A	chr9:96927870-96929609	HepG2	liver:	n/a	chr9:96928579-96928591
3	ARID3A	chr9:96928894-96929348	K562	blood:	n/a	n/a
4	ATF1	chr9:96928847-96929611	K562	blood:	n/a	n/a
5	ATF1	chr9:96928024-96928609	K562	blood:	n/a	n/a
6	ATF2	chr9:96928732-96929443	GM12878	blood:	n/a	chr9:96929117-96929128
7	ATF2	chr9:96928855-96929549	H1-hESC	embryonic stem cell:	n/a	chr9:96929117-96929128
8	ATF2	chr9:96928861-96929320	GM12878	blood:	n/a	chr9:96929117-96929128
9	ATF2	chr9:96928818-96929687	H1-hESC	embryonic stem cell:	n/a	chr9:96929117-96929128
10	ATF2	chr9:96927739-96928431	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr9:96928041-96928383	K562	blood:	n/a	chr9:96928197-96928206
12	ATF3	chr9:96928929-96929203	K562	blood:	n/a	chr9:96929116-96929126 chr9:96929115-96929130 chr9:96929116-96929126 chr9:96929119-96929126 chr9:96929115-96929128 chr9:96929116-96929127 chr9:96929119-96929127 chr9:96929116-96929129
13	ATF3	chr9:96927949-96928329	H1-hESC	embryonic stem cell:	n/a	chr9:96928197-96928206
14	ATF3	chr9:96927985-96928366	GM12878	blood:	n/a	chr9:96928197-96928206
15	ATF3	chr9:96928912-96929310	K562	blood:	n/a	chr9:96929116-96929126 chr9:96929115-96929130 chr9:96929116-96929126 chr9:96929119-96929126 chr9:96929115-96929128 chr9:96929116-96929127 chr9:96929119-96929127 chr9:96929116-96929129
16	ATF3	chr9:96928007-96928366	H1-hESC	embryonic stem cell:	n/a	chr9:96928197-96928206
17	ATF3	chr9:96928394-96929393	A549	lung:	n/a	chr9:96929116-96929126 chr9:96928893-96928913 chr9:96929115-96929130 chr9:96929116-96929126 chr9:96929119-96929126 chr9:96929115-96929128 chr9:96929116-96929127 chr9:96929119-96929127 chr9:96929116-96929129
18	ATF3	chr9:96928015-96928323	HepG2	liver:	n/a	chr9:96928197-96928206
19	ATF3	chr9:96928088-96928273	GM12878	blood:	n/a	chr9:96928197-96928206
20	BACH1	chr9:96928179-96928374	K562	blood:	n/a	n/a
21	BACH1	chr9:96927881-96929597	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL3	chr9:96928836-96929584	A549	lung:	n/a	chr9:96929331-96929344 chr9:96929125-96929134 chr9:96928900-96928913 chr9:96929332-96929345
23	BCL3	chr9:96927754-96928567	A549	lung:	n/a	chr9:96928209-96928222
24	BCL3	chr9:96928805-96929498	A549	lung:	n/a	chr9:96929331-96929344 chr9:96929125-96929134 chr9:96928900-96928913 chr9:96929332-96929345
25	BCLAF1	chr9:96928334-96929093	GM12878	blood:	n/a	chr9:96928900-96928913
26	BHLHE40	chr9:96927561-96929947	K562	blood:	n/a	chr9:96928375-96928391
27	BHLHE40	chr9:96927838-96928353	A549	lung:	n/a	n/a
28	BHLHE40	chr9:96927883-96929485	HepG2	liver:	n/a	chr9:96928375-96928391
29	BHLHE40	chr9:96927543-96929793	GM12878	blood:	n/a	chr9:96928375-96928391
30	BRCA1	chr9:96928340-96928573	GM12878	blood:	n/a	n/a
31	BRCA1	chr9:96928900-96929877	Hela-S3	cervix:	n/a	chr9:96929828-96929835
32	BRCA1	chr9:96928980-96929886	H1-hESC	embryonic stem cell:	n/a	chr9:96929828-96929835
33	BRCA1	chr9:96927920-96928676	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr9:96928546-96929196	HepG2	liver:	n/a	n/a
35	BRCA1	chr9:96928942-96929302	GM12878	blood:	n/a	n/a
36	CBX3	chr9:96927594-96928476	K562	blood:	n/a	n/a
37	CBX3	chr9:96927804-96928288	K562	blood:	n/a	n/a
38	CBX3	chr9:96928558-96929598	K562	blood:	n/a	n/a
39	CCNT2	chr9:96928025-96929759	K562	blood:	n/a	chr9:96929356-96929365 chr9:96928882-96928891 chr9:96928961-96928970
40	CEBPB	chr9:96929382-96929675	A549	lung:	n/a	n/a
41	CEBPB	chr9:96928997-96929183	HepG2	liver:	n/a	n/a
42	CEBPB	chr9:96928022-96929691	Hela-S3	cervix:	n/a	chr9:96928241-96928249
43	CEBPB	chr9:96928939-96929617	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr9:96929362-96929690	HepG2	liver:	n/a	n/a
45	CEBPD	chr9:96927968-96929462	HepG2	liver:	n/a	n/a
46	CEBPD	chr9:96928420-96929568	K562	blood:	n/a	n/a
47	CEBPD	chr9:96928814-96929125	HepG2	liver:	n/a	n/a
48	CEBPZ	chr9:96928269-96928532	HepG2	liver:	n/a	n/a
49	CHD1	chr9:96929258-96930069	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr9:96928491-96929924	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:96928252-96928302	HL-60	blood:	n/a
2	chr9:96929332-96929382	CMK	blood:	n/a
3	chr9:96929332-96929382	Caco-2	colon:	n/a
4	chr9:96929106-96929156	HRCEpiC	kidney:	n/a
5	chr9:96928252-96928302	GM12878	blood:	n/a
6	chr9:96928252-96928302	HIPEpiC	eye:	n/a
7	chr9:96929332-96929382	HRCEpiC	kidney:	n/a
8	chr9:96929106-96929156	U87	brain:	n/a
9	chr9:96929106-96929156	PANC-1	pancreas:	n/a
10	chr9:96928252-96928302	AG09309	skin:	n/a
11	chr9:96929106-96929156	ECC-1	luminal epithelium:	n/a
12	chr9:96929106-96929156	Jurkat	blood:	n/a
13	chr9:96929332-96929382	LNCaP	prostate:	n/a
14	chr9:96929332-96929382	AG09309	skin:	n/a
15	chr9:96928252-96928302	AG04449	skin:	fetal
16	chr9:96929106-96929156	GM12892	blood:	n/a
17	chr9:96929106-96929156	HEK293	kidney:	embryo
18	chr9:96928252-96928302	AG10803	skin:	n/a
19	chr9:96929332-96929382	AG10803	skin:	n/a
20	chr9:96929332-96929382	HCPEpiC	choroid plexus:	n/a
21	chr9:96929106-96929156	Caco-2	colon:	n/a
22	chr9:96929106-96929156	SK-N-SH	brain:	n/a
23	chr9:96929106-96929156	BE2_C	brain:	n/a
24	chr9:96928252-96928302	RPTEC	kidney:	n/a
25	chr9:96928252-96928302	NHBE	bronchial:	n/a
26	chr9:96929332-96929382	SK-N-MC	brain:	n/a
27	chr9:96929332-96929382	HepG2	liver:	n/a
28	chr9:96929106-96929156	GM06990	blood:	n/a
29	chr9:96929106-96929156	AG04450	lung:	fetal
30	chr9:96928252-96928302	HRCEpiC	kidney:	n/a
31	chr9:96928252-96928302	BE2_C	brain:	n/a
32	chr9:96929106-96929156	HCT-116	colon:	n/a
33	chr9:96929106-96929156	IMR90	lung:	fetal
34	chr9:96929332-96929382	AG09319	gingival:	n/a
35	chr9:96929106-96929156	PFSK-1	brain:	n/a
36	chr9:96929332-96929382	HCT-116	colon:	n/a
37	chr9:96929106-96929156	H1-hESC	embryonic stem cell:	embryo
38	chr9:96929332-96929382	NT2-D1	testis:	n/a
39	chr9:96929106-96929156	HRE	kidney:	n/a
40	chr9:96929332-96929382	NHDF-neo	bronchial:	n/a
41	chr9:96929106-96929156	BJ	skin:	n/a
42	chr9:96929332-96929382	MCF10A-Er-Src	breast:	n/a
43	chr9:96929332-96929382	U87	brain:	n/a
44	chr9:96928252-96928302	GM06990	blood:	n/a
45	chr9:96929332-96929382	BE2_C	brain:	n/a
46	chr9:96928252-96928302	ECC-1	luminal epithelium:	n/a
47	chr9:96929106-96929156	CMK	blood:	n/a
48	chr9:96928252-96928302	SK-N-MC	brain:	n/a
49	chr9:96929106-96929156	SKMC	muscle:	n/a
50	chr9:96929106-96929156	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:96885338..96887288-chr9:96929216..96930886,2	MCF-7	breast:
2	chr1:201979347..201980302-chr9:96928844..96929674,2	Hela-S3	cervix:
3	chr17:62207103..62207853-chr9:96928435..96929056,2	Hela-S3	cervix:
4	chr9:96840095..96841913-chr9:96929412..96931188,2	K562	blood:
5	chr9:96773280..96775592-chr9:96928831..96930974,2	K562	blood:
6	chr9:96927010..96929542-chr9:97400485..97402088,2	MCF-7	breast:
7	chr6:27860274..27861052-chr9:96928480..96929585,3	Hela-S3	cervix:
8	chr12:53296484..53299330-chr9:96928573..96930295,2	MCF-7	breast:
9	chr9:96337657..96339290-chr9:96927321..96930180,2	K562	blood:
10	chr9:96911236..96913938-chr9:96926952..96928493,2	MCF-7	breast:
11	chr3:184529756..184530532-chr9:96928301..96928834,2	Hela-S3	cervix:
12	chr9:96861428..96863422-chr9:96927160..96928732,2	MCF-7	breast:
13	chr10:75757238..75757954-chr9:96929118..96929804,2	Hela-S3	cervix:
14	chr9:96905663..96907940-chr9:96926715..96928230,2	K562	blood:
15	chr9:96927406..96930148-chr9:97007636..97010398,2	MCF-7	breast:
16	chr9:96845151..96851769-chr9:96927067..96931565,10	K562	blood:
17	chr9:34328775..34329333-chr9:96928109..96928991,2	Hela-S3	cervix:
18	chr14:20937169..20937695-chr9:96928145..96928840,2	Hela-S3	cervix:
19	chr14:90862960..90863497-chr9:96928700..96929562,2	Hela-S3	cervix:
20	chr9:96573741..96576396-chr9:96929581..96932062,2	K562	blood:
21	chr9:96834076..96836577-chr9:96929876..96932048,2	K562	blood:
22	chr9:96792323..96794528-chr9:96927672..96930924,4	MCF-7	breast:
23	chr19:12901906..12902802-chr9:96928364..96929361,2	Hela-S3	cervix:
24	chr9:96212877..96215443-chr9:96928941..96930763,2	K562	blood:
25	chr9:96845151..96850974-chr9:96927067..96931575,8	K562	blood:
26	chr9:96790823..96795467-chr9:96925835..96932235,7	K562	blood:
27	chr9:96791956..96794354-chr9:96926207..96931491,6	MCF-7	breast:
28	chr9:96790341..96794271-chr9:96926817..96931236,5	K562	blood:
29	chr6:136610448..136611121-chr9:96929034..96929855,2	Hela-S3	cervix:
30	chr11:35159898..35160664-chr9:96928460..96928999,2	Hela-S3	cervix:
31	chr1:152008579..152009679-chr9:96928359..96929023,3	Hela-S3	cervix:
32	chr15:91497959..91498724-chr9:96927748..96928648,2	Hela-S3	cervix:
33	chr1:113247853..113250339-chr9:96928983..96930846,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPDC1-7	chr9:96928571-96928663	ENSG00000269946.1
2	lnc-PTPDC1-7	chr9:96928535-96928663	NONHSAT133286

Variant related genes	Relation type
ENSG00000269946	TF binding region
ENSG00000269946	CpG island
ENSG00000197153	chromatin interactions
ENSG00000197724	chromatin interactions
ENSG00000178607	chromatin interactions
ENSG00000186638	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000198805	chromatin interactions
ENSG00000188938	chromatin interactions
ENSG00000252723	chromatin interactions
ENSG00000234678	chromatin interactions
ENSG00000166965	chromatin interactions
ENSG00000165140	chromatin interactions
ENSG00000048828	chromatin interactions
ENSG00000163435	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000155366	chromatin interactions
ENSG00000156931	chromatin interactions
ENSG00000026508	chromatin interactions
ENSG00000198668	chromatin interactions
ENSG00000158079	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000035403	chromatin interactions
ENSG00000029363	chromatin interactions
ENSG00000258384	chromatin interactions
ENSG00000171223	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142455654	chr9:96927610-96927611	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs375421801	chr9:96927632-96927633	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs146044046	chr9:96927636-96927637	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs558042339	chr9:96927652-96927653	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs566856095	chr9:96927669-96927670	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs543488349	chr9:96927694-96927695	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs111922897	chr9:96927767-96927768	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs7025395	chr9:96927816-96927817	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189961334	chr9:96927839-96927840	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs533025175	chr9:96927861-96927862	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs544387647	chr9:96927867-96927868	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs556593158	chr9:96927884-96927885	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs529415335	chr9:96927893-96927894	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs577973182	chr9:96927923-96927924	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs115568062	chr9:96927931-96927932	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs560484999	chr9:96927981-96927982	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs62578776	chr9:96928019-96928020	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112637257	chr9:96928022-96928023	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs540446314	chr9:96928046-96928047	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs546864369	chr9:96928048-96928049	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs529038970	chr9:96928057-96928058	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs550424454	chr9:96928059-96928060	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs184647200	chr9:96928079-96928080	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs36030019	chr9:96928096-96928097	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139470609	chr9:96928128-96928129	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs369910899	chr9:96928147-96928148	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs534260797	chr9:96928168-96928169	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs188983374	chr9:96928172-96928173	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs367953652	chr9:96928181-96928182	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs529478026	chr9:96928183-96928184	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs567761149	chr9:96928208-96928209	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs538400958	chr9:96928265-96928266	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs144312637	chr9:96928266-96928267	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs146569324	chr9:96928285-96928286	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs117579081	chr9:96928300-96928301	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs116291362	chr9:96928324-96928325	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs572432252	chr9:96928358-96928359	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs540539626	chr9:96928376-96928377	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs566662572	chr9:96928383-96928384	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs561934708	chr9:96928385-96928386	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs113431232	chr9:96928460-96928461	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs149940380	chr9:96928484-96928485	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs11792471	chr9:96928522-96928523	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533094620	chr9:96928531-96928532	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs115341677	chr9:96928568-96928569	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
46	rs566139028	chr9:96928575-96928576	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
47	rs527239857	chr9:96928576-96928577	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
48	rs549283387	chr9:96928578-96928579	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
49	rs567985082	chr9:96928580-96928581	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
50	rs144997329	chr9:96928622-96928623	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96919400-96927600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr9:96919400-96927800	Weak transcription	Psoas Muscle	Psoas
3	chr9:96919600-96927800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:96919600-96927800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:96920000-96927800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr9:96920000-96927800	Weak transcription	Left Ventricle	heart
7	chr9:96920000-96927800	Weak transcription	Pancreas	Pancrea
8	chr9:96920000-96927800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:96920200-96927600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:96921600-96927600	Weak transcription	Brain Substantia Nigra	brain
11	chr9:96921800-96927800	Weak transcription	HSMM	muscle
12	chr9:96922200-96927600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr9:96922200-96927800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:96922200-96927800	Weak transcription	Brain Hippocampus Middle	brain
15	chr9:96922200-96927800	Weak transcription	Fetal Lung	lung
16	chr9:96922400-96927600	Weak transcription	Brain Anterior Caudate	brain
17	chr9:96922400-96927600	Weak transcription	Fetal Kidney	kidney
18	chr9:96922400-96927800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr9:96922400-96927800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr9:96922400-96927800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:96922400-96927800	Weak transcription	Placenta	Placenta
22	chr9:96922400-96927800	Weak transcription	NH-A	brain
23	chr9:96922600-96927800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:96922600-96927800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:96922800-96927800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:96923000-96927600	Weak transcription	Fetal Intestine Large	intestine
27	chr9:96923200-96927600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:96923200-96927600	Weak transcription	A549	lung
29	chr9:96923200-96927800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr9:96923200-96928000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:96923400-96927600	Weak transcription	Fetal Intestine Small	intestine
32	chr9:96923400-96927800	Weak transcription	Fetal Muscle Leg	muscle
33	chr9:96924000-96927800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr9:96924200-96927600	Weak transcription	Adipose Nuclei	Adipose
35	chr9:96924200-96927800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:96924600-96927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:96925000-96928000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr9:96926000-96927800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:96926000-96927800	Weak transcription	Spleen	Spleen
40	chr9:96926000-96928400	Enhancers	Primary hematopoietic stem cells	blood
41	chr9:96926800-96927600	Enhancers	K562	blood
42	chr9:96926800-96927800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr9:96926800-96927800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr9:96927000-96927800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr9:96927000-96927800	Enhancers	Primary B cells from cord blood	blood
46	chr9:96927000-96927800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr9:96927000-96928000	Enhancers	HepG2	liver
48	chr9:96927000-96928200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr9:96927000-96928200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:96927200-96927600	Enhancers	Dnd41	blood

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