Variant report

Variant	esv3522461
Chromosome Location	chr2:97480625-97484323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:772)
CpG islands
(count:549)
Chromatin interactive
region (count:35)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:97481876-97482190	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:97481959-97482147	K562	blood:	n/a	n/a
3	BACH1	chr2:97482074-97482129	K562	blood:	n/a	n/a
4	BACH1	chr2:97481129-97483248	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr2:97481509-97482708	HepG2	liver:	n/a	n/a
6	BHLHE40	chr2:97481163-97482572	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:97481373-97482636	K562	blood:	n/a	n/a
8	BRCA1	chr2:97481977-97482143	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr2:97481983-97482365	HepG2	liver:	n/a	n/a
10	BRCA1	chr2:97481502-97482059	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr2:97481893-97482168	GM12878	blood:	n/a	n/a
12	BRCA1	chr2:97481415-97481615	H1-hESC	embryonic stem cell:	n/a	n/a
13	CBX3	chr2:97481792-97482205	K562	blood:	n/a	n/a
14	CCNT2	chr2:97481565-97483130	K562	blood:	n/a	n/a
15	CEBPB	chr2:97481031-97481758	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr2:97482133-97482657	Hela-S3	cervix:	n/a	n/a
17	CEBPD	chr2:97481551-97482537	HepG2	liver:	n/a	n/a
18	CEBPD	chr2:97481879-97482164	HepG2	liver:	n/a	n/a
19	CHD1	chr2:97481553-97481708	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr2:97481018-97482253	GM12878	blood:	n/a	chr2:97481966-97481976 chr2:97481961-97481971
21	CHD1	chr2:97483669-97483678	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr2:97481114-97482859	Hela-S3	cervix:	n/a	chr2:97481966-97481976 chr2:97481961-97481971
23	CHD2	chr2:97481473-97482297	GM12878	blood:	n/a	chr2:97481966-97481976 chr2:97481961-97481971
24	CHD2	chr2:97482968-97483166	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr2:97483124-97483180	HepG2	liver:	n/a	n/a
26	CHD2	chr2:97481112-97482654	HepG2	liver:	n/a	chr2:97481966-97481976 chr2:97481961-97481971
27	CHD2	chr2:97481321-97482238	H1-hESC	embryonic stem cell:	n/a	chr2:97481966-97481976 chr2:97481961-97481971
28	CHD2	chr2:97481348-97482319	K562	blood:	n/a	chr2:97481966-97481976 chr2:97481961-97481971
29	CREB1	chr2:97481710-97482193	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr2:97481057-97483477	HepG2	liver:	n/a	n/a
31	CREB1	chr2:97481684-97482319	GM12878	blood:	n/a	n/a
32	CREB1	chr2:97481499-97482739	A549	lung:	n/a	n/a
33	CTCF	chr2:97482600-97482750	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr2:97481920-97482070	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr2:97481920-97482070	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr2:97481860-97482010	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr2:97481900-97482050	HCT-116	colon:	n/a	n/a
38	CTCF	chr2:97481900-97482050	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr2:97481676-97482801	K562	blood:	n/a	n/a
40	CTCF	chr2:97481920-97482070	AG10803	skin:	n/a	n/a
41	CTCF	chr2:97481923-97482044	GM10266	blood:	n/a	n/a
42	CTCF	chr2:97481917-97482096	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:97481887-97482127	GM19239	blood:	n/a	n/a
44	CTCF	chr2:97482480-97482630	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr2:97482500-97482650	HMEC	breast:	n/a	n/a
46	CTCF	chr2:97481899-97482299	GM13977	blood:	n/a	n/a
47	CTCF	chr2:97481900-97482050	HEK293	kidney:	n/a	n/a
48	CTCF	chr2:97481815-97482196	HepG2	liver:	n/a	n/a
49	CTCF	chr2:97481920-97482070	BE2_C	brain:	n/a	n/a
50	CTCF	chr2:97481901-97482098	GM13976	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97481230-97481280	Jurkat	blood:	n/a
2	chr2:97482733-97482783	HMEC	breast:	n/a
3	chr2:97481963-97482013	ProgFib	skin:	n/a
4	chr2:97481507-97481557	GM06990	blood:	n/a
5	chr2:97482733-97482783	MCF-7	breast:	n/a
6	chr2:97482184-97482234	Hepatocyte	liver:	n/a
7	chr2:97481963-97482013	SK-N-SH	brain:	n/a
8	chr2:97481963-97482013	HRE	kidney:	n/a
9	chr2:97482733-97482783	K562	blood:	n/a
10	chr2:97482184-97482234	ovcar-3	ovarian:	n/a
11	chr2:97481963-97482013	T-47D	breast:	n/a
12	chr2:97481230-97481280	NHDF-neo	bronchial:	n/a
13	chr2:97481507-97481557	HepG2	liver:	n/a
14	chr2:97483133-97483183	HUVEC	blood vessel:	n/a
15	chr2:97481963-97482013	PFSK-1	brain:	n/a
16	chr2:97482059-97482109	HepG2	liver:	n/a
17	chr2:97483133-97483183	GM12892	blood:	n/a
18	chr2:97483133-97483183	ECC-1	luminal epithelium:	n/a
19	chr2:97482184-97482234	SK-N-SH	brain:	n/a
20	chr2:97483133-97483183	GM06990	blood:	n/a
21	chr2:97481853-97481903	HepG2	liver:	n/a
22	chr2:97482059-97482109	AG10803	skin:	n/a
23	chr2:97481230-97481280	AG09319	gingival:	n/a
24	chr2:97482059-97482109	CMK	blood:	n/a
25	chr2:97481230-97481280	RPTEC	kidney:	n/a
26	chr2:97482733-97482783	ovcar-3	ovarian:	n/a
27	chr2:97481507-97481557	K562	blood:	n/a
28	chr2:97483133-97483183	Jurkat	blood:	n/a
29	chr2:97482733-97482783	HNPCEpiC	eye:	n/a
30	chr2:97481230-97481280	ovcar-3	ovarian:	n/a
31	chr2:97481230-97481280	SKMC	muscle:	n/a
32	chr2:97482059-97482109	GM12878	blood:	n/a
33	chr2:97481230-97481280	Hela-S3	cervix:	n/a
34	chr2:97481853-97481903	ECC-1	luminal epithelium:	n/a
35	chr2:97481843-97481893	IMR90	lung:	fetal
36	chr2:97483133-97483183	NB4	blood:	n/a
37	chr2:97481963-97482013	GM19239	blood:	n/a
38	chr2:97483133-97483183	HCPEpiC	choroid plexus:	n/a
39	chr2:97482184-97482234	H1-hESC	embryonic stem cell:	embryo
40	chr2:97481843-97481893	Hepatocyte	liver:	n/a
41	chr2:97481963-97482013	NB4	blood:	n/a
42	chr2:97482059-97482109	ECC-1	luminal epithelium:	n/a
43	chr2:97481843-97481893	NB4	blood:	n/a
44	chr2:97481507-97481557	BJ	skin:	n/a
45	chr2:97482184-97482234	Caco-2	colon:	n/a
46	chr2:97481843-97481893	HRCEpiC	kidney:	n/a
47	chr2:97481853-97481903	HL-60	blood:	n/a
48	chr2:97481853-97481903	HRCEpiC	kidney:	n/a
49	chr2:97482059-97482109	NT2-D1	testis:	n/a
50	chr2:97482059-97482109	NHBE	bronchial:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97482077..97484941-chr2:97522185..97524472,2	MCF-7	breast:
2	chr2:97303859..97305572-chr2:97481972..97484956,2	K562	blood:
3	chr2:97481720..97483625-chr2:97563695..97565331,2	MCF-7	breast:
4	chr2:97424794..97426969-chr2:97483336..97486103,2	MCF-7	breast:
5	chr2:97426447..97426998-chr2:97482596..97483465,2	MCF-7	breast:
6	chr2:97481193..97483827-chr2:97615548..97618256,2	MCF-7	breast:
7	chr2:97302952..97305022-chr2:97481063..97483448,2	MCF-7	breast:
8	chr2:97481539..97482070-chr4:6695226..6696046,2	Hela-S3	cervix:
9	chr2:97481330..97485256-chr2:97521136..97525640,5	K562	blood:
10	chr2:88315676..88316345-chr2:97482030..97482627,2	HCT-116	colon:
11	chr2:97483777..97486201-chr2:97534208..97536891,3	K562	blood:
12	chr2:97483756..97486105-chr2:97524140..97526668,2	K562	blood:
13	chr1:113161829..113162386-chr2:97481549..97482238,2	Hela-S3	cervix:
14	chr2:97481114..97483138-chr2:97559703..97563563,4	MCF-7	breast:
15	chr2:97480034..97481965-chr2:97506952..97509258,2	MCF-7	breast:
16	chr2:97481562..97482123-chr7:10979299..10980019,2	Hela-S3	cervix:
17	chr17:57913918..57915795-chr2:97481404..97483312,2	MCF-7	breast:
18	chr2:97480973..97483903-chr2:97621623..97628750,6	MCF-7	breast:
19	chr2:97481648..97486150-chr2:97531417..97538119,10	MCF-7	breast:
20	chr2:97482924..97486110-chr2:97522270..97524804,3	MCF-7	breast:
21	chr2:97480158..97482561-chr2:97778545..97780856,2	MCF-7	breast:
22	chr2:97482548..97484049-chr5:176980916..176982734,2	MCF-7	breast:
23	chr2:97302043..97304772-chr2:97480834..97485283,4	K562	blood:
24	chr2:97481962..97482603-chr3:195163221..195164183,2	Hela-S3	cervix:
25	chr2:97480273..97481938-chr2:97629439..97631749,2	MCF-7	breast:
26	chr2:97480014..97482644-chr2:97518894..97524629,5	MCF-7	breast:
27	chr2:97481636..97484312-chr2:97528160..97530681,3	MCF-7	breast:
28	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
29	chr2:97481295..97481867-chr5:137878471..137879396,2	Hela-S3	cervix:
30	chr2:97481330..97483685-chr2:97521136..97525158,3	K562	blood:
31	chr2:97302401..97304754-chr2:97481583..97484330,2	MCF-7	breast:
32	chr2:97482890..97484803-chr2:97649558..97651545,2	MCF-7	breast:
33	chr2:97482549..97484070-chr5:176981046..176982847,2	MCF-7	breast:
34	chr2:97484195..97486441-chr2:97527704..97530439,2	K562	blood:
35	chr2:97480844..97484629-chr2:97532869..97536982,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD23-2	chr2:97480684-97481990	NONHSAT072586
2	lnc-ANKRD23-2	chr2:97480968-97481762	NONHSAT072587
3	lnc-ANKRD23-2	chr2:97482197-97482303	NONHSAT072587

No data

Variant related genes	Relation type
CNNM3	TF binding region
ENSG00000273265	TF binding region
CNNM3	CpG island
ENSG00000273265	CpG island
ENSG00000114982	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000163126	chromatin interactions
ENSG00000114331	chromatin interactions
ENSG00000168758	chromatin interactions
ENSG00000213337	chromatin interactions
ENSG00000120705	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000146067	chromatin interactions
ENSG00000189043	chromatin interactions
ENSG00000272459	chromatin interactions
ENSG00000252845	chromatin interactions
ENSG00000135976	chromatin interactions
ENSG00000168754	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000158158	chromatin interactions
ENSG00000163993	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534244423	chr2:97480657-97480658	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs550691747	chr2:97480666-97480667	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs59276949	chr2:97480681-97480682	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs11320953	chr2:97480730-97480731	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs551841991	chr2:97480867-97480868	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
6	rs571583724	chr2:97480915-97480916	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
7	rs530910011	chr2:97480942-97480943	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
8	rs536446495	chr2:97480975-97480976	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
9	rs550962423	chr2:97481012-97481013	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
10	rs370041735	chr2:97481024-97481025	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
11	rs536902060	chr2:97481039-97481040	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
12	rs553652100	chr2:97481110-97481111	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
13	rs185967253	chr2:97481194-97481195	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
14	rs534455022	chr2:97481206-97481207	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
15	rs557813131	chr2:97481213-97481214	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
16	rs577636565	chr2:97481267-97481268	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
17	rs543029944	chr2:97481269-97481270	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
18	rs556497493	chr2:97481304-97481305	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
19	rs373220096	chr2:97481307-97481308	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
20	rs563473057	chr2:97481309-97481310	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
21	rs115413297	chr2:97481312-97481313	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
22	rs533244532	chr2:97481333-97481334	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
23	rs542508351	chr2:97481343-97481344	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
24	rs190578686	chr2:97481361-97481362	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
25	rs528271799	chr2:97481408-97481409	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
26	rs545196762	chr2:97481457-97481458	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
27	rs369744421	chr2:97481508-97481509	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
28	rs565397585	chr2:97481544-97481545	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
29	rs530694408	chr2:97481577-97481578	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
30	rs530872167	chr2:97481590-97481591	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
31	rs551000874	chr2:97481677-97481678	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
32	rs376160260	chr2:97481713-97481714	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
33	rs567664147	chr2:97481719-97481720	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
34	rs111269485	chr2:97481745-97481746	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
35	rs530460302	chr2:97481750-97481751	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
36	rs370498065	chr2:97481807-97481808	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
37	rs182418962	chr2:97481823-97481824	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
38	rs566981774	chr2:97481828-97481829	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
39	rs539244262	chr2:97481887-97481888	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
40	rs558850826	chr2:97481977-97481978	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
41	rs571328605	chr2:97481982-97481983	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
42	rs536700315	chr2:97481983-97481984	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
43	rs186606513	chr2:97482001-97482002	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs573290906	chr2:97482014-97482015	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs536174643	chr2:97482031-97482032	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs373318478	chr2:97482042-97482043	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs146227689	chr2:97482098-97482099	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs545201213	chr2:97482101-97482102	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs370611199	chr2:97482104-97482105	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs373902792	chr2:97482168-97482169	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:97454600-97481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:97454600-97481000	Weak transcription	NHEK	skin
4	chr2:97462000-97480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:97464600-97480800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:97465200-97481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:97465400-97481200	Weak transcription	Small Intestine	intestine
8	chr2:97466000-97481200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:97466800-97481000	Weak transcription	HMEC	breast
10	chr2:97467800-97481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:97467800-97481000	Weak transcription	Fetal Brain Male	brain
12	chr2:97468000-97480800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:97468000-97480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:97468000-97481000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:97468400-97480800	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:97473000-97481000	Weak transcription	Primary B cells from cord blood	blood
17	chr2:97473200-97480800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:97473200-97480800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:97473600-97481000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:97473800-97481000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:97474000-97480800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:97474200-97480800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:97474200-97480800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:97474200-97480800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:97474200-97481000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:97474400-97480800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:97474600-97481000	Weak transcription	Ovary	ovary
28	chr2:97475200-97481000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:97475400-97480800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:97475400-97481000	Weak transcription	Aorta	Aorta
31	chr2:97476200-97480800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:97476200-97480800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:97476200-97481000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:97476200-97481200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:97476400-97480800	Weak transcription	Brain Angular Gyrus	brain
36	chr2:97476400-97480800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:97476400-97481000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:97476400-97481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:97476400-97481000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:97476400-97481000	Weak transcription	Pancreas	Pancrea
41	chr2:97476400-97481000	Weak transcription	Stomach Mucosa	stomach
42	chr2:97476600-97480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:97476600-97480800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:97476600-97480800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:97476600-97481000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:97476600-97481000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:97476600-97481000	Weak transcription	Colonic Mucosa	Colon
48	chr2:97476600-97481200	Weak transcription	Esophagus	oesophagus
49	chr2:97476800-97480800	Weak transcription	Dnd41	blood
50	chr2:97476800-97481000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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