Variant report

Variant	esv3394890
Chromosome Location	chr22:31363902-31366800
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	chr22:31366547-31366697	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:31364427-31364609	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:31364894-31365471	HepG2	liver:	n/a	n/a
4	ATF2	chr22:31364239-31364777	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr22:31364165-31364719	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr22:31364916-31365386	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr22:31364989-31365287	K562	blood:	n/a	chr22:31365161-31365181 chr22:31365172-31365181 chr22:31365240-31365249
8	ATF3	chr22:31364859-31365410	HepG2	liver:	n/a	chr22:31365161-31365181 chr22:31365172-31365181 chr22:31365240-31365249
9	ATF3	chr22:31364904-31365365	H1-hESC	embryonic stem cell:	n/a	chr22:31365161-31365181 chr22:31365172-31365181 chr22:31365240-31365249
10	ATF3	chr22:31364900-31365324	GM12878	blood:	n/a	chr22:31365161-31365181 chr22:31365172-31365181 chr22:31365240-31365249
11	ATF3	chr22:31364951-31365304	HepG2	liver:	n/a	chr22:31365161-31365181 chr22:31365172-31365181 chr22:31365240-31365249
12	ATF3	chr22:31365021-31365263	GM12878	blood:	n/a	chr22:31365161-31365181 chr22:31365172-31365181 chr22:31365240-31365249
13	ATF3	chr22:31364881-31365349	H1-hESC	embryonic stem cell:	n/a	chr22:31365161-31365181 chr22:31365172-31365181 chr22:31365240-31365249
14	BACH1	chr22:31365855-31366055	K562	blood:	n/a	n/a
15	BACH1	chr22:31364384-31364495	K562	blood:	n/a	n/a
16	BACH1	chr22:31364545-31364670	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCLAF1	chr22:31364684-31365597	GM12878	blood:	n/a	chr22:31365253-31365266
18	BHLHE40	chr22:31364001-31365556	K562	blood:	n/a	chr22:31365171-31365180 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365172-31365181
19	BHLHE40	chr22:31364999-31365284	A549	lung:	n/a	chr22:31365171-31365180 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365172-31365181
20	BHLHE40	chr22:31364296-31365587	HepG2	liver:	n/a	chr22:31365171-31365180 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365172-31365181
21	BHLHE40	chr22:31364660-31365639	GM12878	blood:	n/a	chr22:31365171-31365180 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365172-31365181
22	BRCA1	chr22:31364288-31364622	HepG2	liver:	n/a	n/a
23	BRCA1	chr22:31364932-31365228	HepG2	liver:	n/a	n/a
24	BRCA1	chr22:31364945-31365420	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr22:31365016-31365439	GM12878	blood:	n/a	n/a
26	CCNT2	chr22:31363868-31364067	K562	blood:	n/a	n/a
27	CCNT2	chr22:31364473-31365729	K562	blood:	n/a	chr22:31364592-31364601
28	CEBPB	chr22:31364024-31364652	K562	blood:	n/a	n/a
29	CEBPB	chr22:31364243-31364774	MCF-7	breast:	n/a	n/a
30	CEBPB	chr22:31364043-31364708	A549	lung:	n/a	n/a
31	CEBPB	chr22:31364027-31364224	IMR90	lung:	n/a	n/a
32	CEBPB	chr22:31364366-31364690	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr22:31363983-31364671	HepG2	liver:	n/a	n/a
34	CEBPB	chr22:31364162-31364653	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPD	chr22:31364785-31365483	HepG2	liver:	n/a	n/a
36	CEBPZ	chr22:31364211-31364433	HepG2	liver:	n/a	n/a
37	CHD1	chr22:31364123-31364743	H1-hESC	embryonic stem cell:	n/a	chr22:31364590-31364600
38	CHD1	chr22:31364413-31365600	GM12878	blood:	n/a	chr22:31365081-31365091 chr22:31364590-31364600 chr22:31365241-31365251
39	CHD1	chr22:31365762-31366265	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr22:31365824-31366195	GM12878	blood:	n/a	n/a
41	CHD2	chr22:31363919-31365484	H1-hESC	embryonic stem cell:	n/a	chr22:31365081-31365091 chr22:31364590-31364600 chr22:31365241-31365251
42	CHD2	chr22:31365782-31366077	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr22:31364506-31365431	HepG2	liver:	n/a	chr22:31365081-31365091 chr22:31364590-31364600 chr22:31365241-31365251
44	CHD2	chr22:31364442-31365715	K562	blood:	n/a	chr22:31365081-31365091 chr22:31364590-31364600 chr22:31365241-31365251
45	CHD2	chr22:31364421-31365801	Hela-S3	cervix:	n/a	chr22:31365081-31365091 chr22:31364590-31364600 chr22:31365241-31365251
46	CHD2	chr22:31364241-31366019	GM12878	blood:	n/a	chr22:31365081-31365091 chr22:31364590-31364600 chr22:31365241-31365251
47	CHD2	chr22:31365686-31365948	HepG2	liver:	n/a	n/a
48	CREB1	chr22:31364842-31365467	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr22:31364282-31365600	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr22:31364335-31365592	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31365812-31365862	CMK	blood:	n/a
2	chr22:31364304-31364354	SAEC	small airway:	n/a
3	chr22:31365094-31365144	ovcar-3	ovarian:	n/a
4	chr22:31365094-31365144	Caco-2	colon:	n/a
5	chr22:31364830-31364880	SK-N-MC	brain:	n/a
6	chr22:31364302-31364352	ECC-1	luminal epithelium:	n/a
7	chr22:31366210-31366260	RPTEC	kidney:	n/a
8	chr22:31364274-31364324	SK-N-MC	brain:	n/a
9	chr22:31365455-31365505	Caco-2	colon:	n/a
10	chr22:31364349-31364399	HMEC	breast:	n/a
11	chr22:31365455-31365505	HCM	heart:	n/a
12	chr22:31365812-31365862	NHBE	bronchial:	n/a
13	chr22:31364830-31364880	HEEpiC	esophagus:	n/a
14	chr22:31365812-31365862	BJ	skin:	n/a
15	chr22:31366210-31366260	HL-60	blood:	n/a
16	chr22:31364349-31364399	Hela-S3	cervix:	n/a
17	chr22:31364274-31364324	NHDF-neo	bronchial:	n/a
18	chr22:31365812-31365862	SK-N-SH_RA	brain:	n/a
19	chr22:31364830-31364880	MCF10A-Er-Src	breast:	n/a
20	chr22:31364274-31364324	NHBE	bronchial:	n/a
21	chr22:31366210-31366260	K562	blood:	n/a
22	chr22:31364948-31364998	AG10803	skin:	n/a
23	chr22:31364830-31364880	SKMC	muscle:	n/a
24	chr22:31364948-31364998	IMR90	lung:	fetal
25	chr22:31364356-31364406	MCF-7	breast:	n/a
26	chr22:31364274-31364324	K562	blood:	n/a
27	chr22:31366760-31366810	HRPEpiC	eye:	n/a
28	chr22:31365144-31365194	NHDF-neo	bronchial:	n/a
29	chr22:31366760-31366810	HAEpiC	amniotic membrane:	n/a
30	chr22:31366210-31366260	HCT-116	colon:	n/a
31	chr22:31366210-31366260	AG09309	skin:	n/a
32	chr22:31364948-31364998	HCF	heart:	n/a
33	chr22:31366760-31366810	AG04449	skin:	fetal
34	chr22:31364274-31364324	SK-N-SH_RA	brain:	n/a
35	chr22:31366210-31366260	SK-N-MC	brain:	n/a
36	chr22:31366210-31366260	U87	brain:	n/a
37	chr22:31364304-31364354	IMR90	lung:	fetal
38	chr22:31365144-31365194	HUVEC	blood vessel:	n/a
39	chr22:31364356-31364406	HCM	heart:	n/a
40	chr22:31364349-31364399	ProgFib	skin:	n/a
41	chr22:31364356-31364406	HNPCEpiC	eye:	n/a
42	chr22:31365455-31365505	NHDF-neo	bronchial:	n/a
43	chr22:31365812-31365862	PANC-1	pancreas:	n/a
44	chr22:31364304-31364354	ProgFib	skin:	n/a
45	chr22:31366210-31366260	HPAEpiC	pulmonary alveolar:	n/a
46	chr22:31364349-31364399	A549	lung:	n/a
47	chr22:31364948-31364998	Caco-2	colon:	n/a
48	chr22:31364274-31364324	Jurkat	blood:	n/a
49	chr22:31364948-31364998	GM19239	blood:	n/a
50	chr22:31365812-31365862	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31364295..31366215-chr22:31500800..31503274,2	K562	blood:
2	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
3	chr22:31364730..31366570-chr22:31554065..31556139,2	MCF-7	breast:
4	chr22:31363776..31366652-chr22:31458331..31460655,2	K562	blood:
5	chr22:31364873..31366437-chr22:31573085..31575105,2	MCF-7	breast:
6	chr22:31364563..31366605-chr22:31487130..31490590,3	MCF-7	breast:
7	chr22:31362414..31364814-chr22:31884704..31886596,2	K562	blood:
8	chr22:31363691..31369255-chr22:31456002..31460514,7	MCF-7	breast:
9	chr22:31364481..31367281-chr22:31457492..31460562,3	MCF-7	breast:
10	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:
11	chr1:89990349..89991161-chr22:31364987..31365969,2	Hela-S3	cervix:
12	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
13	chr22:31364265..31366657-chr3:63848755..63850667,2	MCF-7	breast:
14	chr22:31363469..31366268-chr22:31450278..31456884,6	MCF-7	breast:
15	chr22:31363553..31366522-chr22:32148342..32151239,2	K562	blood:
16	chr22:31365016..31365759-chr22:31480765..31481326,2	Hela-S3	cervix:
17	chr1:149858027..149858541-chr22:31364829..31365374,2	Hela-S3	cervix:
18	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
19	chr22:31365932..31368594-chr6:30687396..30689377,2	K562	blood:
20	chr22:31352151..31354535-chr22:31364761..31366317,2	K562	blood:
21	chr22:31365228..31365822-chr22:31480733..31481272,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSBP2-2	chr22:31365262-31365372	XLOC_014209
2	lnc-OSBP2-2	chr22:31365747-31367765	NONHSAT084830
3	lnc-OSBP2-2	chr22:31366663-31367765	ENSG00000253352

Variant related genes	Relation type
TUG1	TF binding region
MORC2	TF binding region
TUG1	CpG island
MORC2	CpG island
ENSG00000183963	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000198832	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000264141	chromatin interactions
ENSG00000240186	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000197147	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000196230	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000273387	chromatin interactions
UTP15	miRNA target sites

Extended variants
information (count: 112 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561368532	chr22:31363924-31363925	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs192803614	chr22:31363937-31363938	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs569354265	chr22:31363955-31363956	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs538397039	chr22:31363965-31363966	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs530260293	chr22:31363982-31363983	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs577945375	chr22:31364028-31364029	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs145653923	chr22:31364061-31364062	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs184440213	chr22:31364079-31364080	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs552564705	chr22:31364085-31364086	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs554258692	chr22:31364135-31364136	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs572476888	chr22:31364187-31364188	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs115063153	chr22:31364199-31364200	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs367866701	chr22:31364220-31364221	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs143677618	chr22:31364261-31364262	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs530510132	chr22:31364275-31364276	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs544439780	chr22:31364280-31364281	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs564253824	chr22:31364289-31364290	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs533301522	chr22:31364297-31364298	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs146433218	chr22:31364304-31364305	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs566895923	chr22:31364358-31364359	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs576211020	chr22:31364373-31364374	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs544982381	chr22:31364381-31364382	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs549218742	chr22:31364383-31364384	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs569375549	chr22:31364417-31364418	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs117192604	chr22:31364423-31364424	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs188135502	chr22:31364433-31364434	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs140881012	chr22:31364458-31364459	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs180896176	chr22:31364473-31364474	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs553995834	chr22:31364485-31364486	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs572511261	chr22:31364517-31364518	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs535472261	chr22:31364518-31364519	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs555063784	chr22:31364569-31364570	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs4820920	chr22:31364580-31364581	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543958150	chr22:31364583-31364584	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs564292512	chr22:31364682-31364683	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs532561835	chr22:31364703-31364704	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs577886386	chr22:31364768-31364769	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs140883256	chr22:31364793-31364794	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs552562012	chr22:31364794-31364795	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs577214698	chr22:31364820-31364821	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs560447990	chr22:31364825-31364826	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs529167089	chr22:31364842-31364843	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs540830288	chr22:31364860-31364861	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs77716124	chr22:31364993-31364994	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs186350801	chr22:31364996-31364997	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs189528428	chr22:31365005-31365006	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs538052206	chr22:31365007-31365008	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs181774802	chr22:31365049-31365050	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs545577529	chr22:31365085-31365086	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs534083052	chr22:31365126-31365127	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20858604	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31317600-31364000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31345400-31364000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:31345600-31364200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:31346000-31364400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:31346200-31364200	Weak transcription	Brain Substantia Nigra	brain
6	chr22:31347200-31364400	Weak transcription	Esophagus	oesophagus
7	chr22:31347600-31364000	Weak transcription	Fetal Kidney	kidney
8	chr22:31348800-31364000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:31349000-31364400	Weak transcription	Aorta	Aorta
10	chr22:31349200-31364200	Weak transcription	Thymus	Thymus
11	chr22:31349400-31364400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:31349800-31364200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr22:31350400-31364200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:31351000-31364400	Weak transcription	Ovary	ovary
15	chr22:31351800-31364000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr22:31352600-31364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:31352800-31364000	Weak transcription	Adipose Nuclei	Adipose
18	chr22:31352800-31364000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr22:31353400-31364200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr22:31355400-31364200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr22:31355400-31364200	Weak transcription	Placenta	Placenta
22	chr22:31355600-31364200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr22:31357600-31364600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:31357800-31364200	ZNF genes & repeats	Fetal Brain Female	brain
25	chr22:31358800-31364200	Weak transcription	Fetal Thymus	thymus
26	chr22:31360200-31364200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:31360600-31364400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
28	chr22:31361800-31364000	Strong transcription	HSMM	muscle
29	chr22:31362200-31364000	Enhancers	Liver	Liver
30	chr22:31362400-31365200	Flanking Active TSS	Dnd41	blood
31	chr22:31362600-31364200	Enhancers	Small Intestine	intestine
32	chr22:31362600-31364400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr22:31362800-31364000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
34	chr22:31362800-31364000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr22:31362800-31364000	Weak transcription	Fetal Stomach	stomach
36	chr22:31362800-31364200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr22:31362800-31364200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr22:31362800-31364200	Weak transcription	Left Ventricle	heart
39	chr22:31362800-31364200	ZNF genes & repeats	GM12878-XiMat	blood
40	chr22:31362800-31364400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr22:31362800-31364400	Weak transcription	Lung	lung
42	chr22:31363000-31364000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:31363000-31364000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr22:31363000-31364200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
45	chr22:31363000-31364200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:31363000-31364200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:31363000-31364400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:31363000-31364400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr22:31363000-31364400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
50	chr22:31363000-31364400	ZNF genes & repeats	A549	lung

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