Variant report

Variant	esv3327327
Chromosome Location	chr2:20211296-20213844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:795)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:20212407-20212580	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:20211742-20211922	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:20212535-20212750	IMR90	lung:	n/a	n/a
4	CEBPB	chr2:20212498-20212957	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:20212497-20212772	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr2:20212541-20212819	HepG2	liver:	n/a	n/a
7	CEBPD	chr2:20212001-20212749	HepG2	liver:	n/a	n/a
8	CHD1	chr2:20212566-20212679	H1-hESC	embryonic stem cell:	n/a	chr2:20212609-20212619
9	CHD1	chr2:20212953-20213244	H1-hESC	embryonic stem cell:	n/a	n/a
10	CREB1	chr2:20212164-20212716	A549	lung:	n/a	n/a
11	CTBP2	chr2:20212493-20212832	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr2:20211380-20211530	GM12866	blood:	n/a	n/a
13	CTCF	chr2:20213320-20213470	GM06990	blood:	n/a	n/a
14	E2F4	chr2:20212039-20212652	MCF10A-Er-Src	breast:	n/a	chr2:20212148-20212160
15	E2F4	chr2:20212896-20212898	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F6	chr2:20212309-20212771	A549	lung:	n/a	chr2:20212761-20212771
17	E2F6	chr2:20211884-20212355	H1-hESC	embryonic stem cell:	n/a	chr2:20212148-20212160
18	E2F6	chr2:20212338-20212574	K562	blood:	n/a	n/a
19	E2F6	chr2:20211866-20212879	A549	lung:	n/a	chr2:20212761-20212771 chr2:20212148-20212160
20	ELF1	chr2:20211797-20212460	GM12878	blood:	n/a	chr2:20212197-20212210
21	ELF1	chr2:20211999-20212586	HepG2	liver:	n/a	chr2:20212197-20212210
22	ELF1	chr2:20212041-20212404	HepG2	liver:	n/a	chr2:20212197-20212210
23	ELF1	chr2:20212056-20212358	K562	blood:	n/a	chr2:20212197-20212210
24	ELF1	chr2:20212977-20213292	HepG2	liver:	n/a	n/a
25	ELF1	chr2:20211909-20212367	MCF-7	breast:	n/a	chr2:20212197-20212210
26	ELF1	chr2:20212063-20212322	K562	blood:	n/a	chr2:20212197-20212210
27	EP300	chr2:20212317-20213285	HepG2	liver:	n/a	chr2:20212923-20212937 chr2:20212921-20212935
28	EP300	chr2:20212897-20213194	HepG2	liver:	n/a	chr2:20212923-20212937 chr2:20212921-20212935
29	EP300	chr2:20212452-20212566	HepG2	liver:	n/a	n/a
30	EP300	chr2:20212720-20213265	HepG2	liver:	n/a	chr2:20212923-20212937 chr2:20212921-20212935
31	FOXA1	chr2:20212290-20213320	HepG2	liver:	n/a	n/a
32	FOXA1	chr2:20211222-20211487	T-47D	breast:	n/a	n/a
33	FOXA1	chr2:20212756-20213328	HepG2	liver:	n/a	n/a
34	FOXA1	chr2:20212317-20213341	HepG2	liver:	n/a	n/a
35	FOXA1	chr2:20212375-20212683	T-47D	breast:	n/a	n/a
36	FOXA1	chr2:20212704-20213314	HepG2	liver:	n/a	n/a
37	FOXA2	chr2:20212313-20212817	A549	lung:	n/a	n/a
38	FOXA2	chr2:20212240-20212845	A549	lung:	n/a	n/a
39	FOXA2	chr2:20212421-20212688	HepG2	liver:	n/a	n/a
40	FOXA2	chr2:20212757-20213227	HepG2	liver:	n/a	n/a
41	FOXP2	chr2:20212017-20212856	PFSK-1	brain:	n/a	n/a
42	GATA2	chr2:20210875-20212091	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr2:20210645-20211957	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr2:20211108-20211535	T-47D	breast:	n/a	n/a
45	GATA3	chr2:20211195-20211977	MCF-7	breast:	n/a	n/a
46	GATA3	chr2:20211190-20211843	T-47D	breast:	n/a	n/a
47	GATA3	chr2:20211602-20211908	T-47D	breast:	n/a	n/a
48	GTF2F1	chr2:20213176-20213184	H1-hESC	embryonic stem cell:	n/a	n/a
49	HA-E2F1	chr2:20211865-20212771	MCF-7	breast:	n/a	chr2:20212761-20212771 chr2:20212148-20212160
50	HDAC2	chr2:20212339-20213087	HepG2	liver:	n/a	chr2:20212924-20212938 chr2:20212921-20212935 chr2:20212926-20212940 chr2:20212917-20212931 chr2:20212920-20212934 chr2:20212925-20212939

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20212524-20212574	GM12891	blood:	n/a
2	chr2:20212600-20212650	IMR90	lung:	fetal
3	chr2:20212524-20212574	GM12891	blood:	n/a
4	chr2:20212600-20212650	IMR90	lung:	fetal
5	chr2:20212423-20212473	PrEC	prostate:	n/a
6	chr2:20212440-20212490	HIPEpiC	eye:	n/a
7	chr2:20212509-20212559	HCT-116	colon:	n/a
8	chr2:20212602-20212652	HPAEpiC	pulmonary alveolar:	n/a
9	chr2:20212600-20212650	U87	brain:	n/a
10	chr2:20212524-20212574	HCF	heart:	n/a
11	chr2:20212831-20212881	AG09319	gingival:	n/a
12	chr2:20212423-20212473	HCT-116	colon:	n/a
13	chr2:20212423-20212473	HCF	heart:	n/a
14	chr2:20211868-20211918	CMK	blood:	n/a
15	chr2:20211771-20211821	H1-hESC	embryonic stem cell:	embryo
16	chr2:20213110-20213160	HIPEpiC	eye:	n/a
17	chr2:20212524-20212574	ovcar-3	ovarian:	n/a
18	chr2:20212602-20212652	NHBE	bronchial:	n/a
19	chr2:20213110-20213160	A549	lung:	n/a
20	chr2:20212423-20212473	AG10803	skin:	n/a
21	chr2:20212440-20212490	HepG2	liver:	n/a
22	chr2:20212509-20212559	AG04449	skin:	fetal
23	chr2:20212524-20212574	HEEpiC	esophagus:	n/a
24	chr2:20212440-20212490	LNCaP	prostate:	n/a
25	chr2:20212517-20212567	AG04450	lung:	fetal
26	chr2:20212440-20212490	HL-60	blood:	n/a
27	chr2:20211771-20211821	HPAEpiC	pulmonary alveolar:	n/a
28	chr2:20212524-20212574	Hepatocyte	liver:	n/a
29	chr2:20212509-20212559	BJ	skin:	n/a
30	chr2:20212509-20212559	RPTEC	kidney:	n/a
31	chr2:20212423-20212473	Hela-S3	cervix:	n/a
32	chr2:20211868-20211918	NHBE	bronchial:	n/a
33	chr2:20211771-20211821	HIPEpiC	eye:	n/a
34	chr2:20212597-20212647	CMK	blood:	n/a
35	chr2:20212440-20212490	PrEC	prostate:	n/a
36	chr2:20212600-20212650	Caco-2	colon:	n/a
37	chr2:20213110-20213160	K562	blood:	n/a
38	chr2:20211868-20211918	H1-hESC	embryonic stem cell:	embryo
39	chr2:20211771-20211821	SK-N-MC	brain:	n/a
40	chr2:20212602-20212652	AG10803	skin:	n/a
41	chr2:20211868-20211918	PANC-1	pancreas:	n/a
42	chr2:20212501-20212551	AG09319	gingival:	n/a
43	chr2:20212517-20212567	PrEC	prostate:	n/a
44	chr2:20212524-20212574	PANC-1	pancreas:	n/a
45	chr2:20212423-20212473	NHDF-neo	bronchial:	n/a
46	chr2:20212440-20212490	HEK293	kidney:	embryo
47	chr2:20212440-20212490	GM19239	blood:	n/a
48	chr2:20212423-20212473	SK-N-MC	brain:	n/a
49	chr2:20212423-20212473	AG04450	lung:	fetal
50	chr2:20212517-20212567	Hela-S3	cervix:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20100174..20102610-chr2:20210231..20211976,2	MCF-7	breast:
2	chr2:20188544..20190994-chr2:20211302..20213941,2	MCF-7	breast:
3	chr2:20212620..20214988-chr2:20250395..20252051,2	MCF-7	breast:
4	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:
5	chr2:20213655..20215850-chr2:20273111..20274656,2	MCF-7	breast:
6	chr2:20187710..20189541-chr2:20212607..20214933,2	K562	blood:
7	chr2:20212605..20214922-chr2:20216980..20220655,3	MCF-7	breast:
8	chr2:20209928..20212604-chr2:20250418..20252144,2	MCF-7	breast:
9	chr2:20213361..20215470-chr2:20241959..20243915,2	MCF-7	breast:
10	chr2:20213367..20215755-chr2:20296083..20298973,4	MCF-7	breast:
11	chr2:20196234..20199275-chr2:20211073..20214096,3	MCF-7	breast:
12	chr2:20210810..20211522-chr2:20297641..20298165,2	MCF-7	breast:
13	chr2:20187189..20189541-chr2:20212582..20214933,2	K562	blood:
14	chr11:356190..356865-chr2:20212456..20212956,2	MCF-7	breast:

No data

Variant related genes	Relation type
MATN3	TF binding region
MATN3	CpG island
ENSG00000223734	chromatin interactions
ENSG00000068697	chromatin interactions
ENSG00000132031	chromatin interactions
ENSG00000271991	chromatin interactions
ENSG00000183891	chromatin interactions
ENSG00000118965	chromatin interactions
ENSG00000227210	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571016219	chr2:20211313-20211314	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs367568927	chr2:20211336-20211337	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs550465954	chr2:20211343-20211344	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs570341392	chr2:20211352-20211353	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs75185141	chr2:20211366-20211367	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs555391397	chr2:20211451-20211452	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs565631463	chr2:20211550-20211551	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs183331787	chr2:20211712-20211713	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs557436870	chr2:20211919-20211920	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs577389744	chr2:20211983-20211984	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs374832651	chr2:20212072-20212073	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs104893640	chr2:20212184-20212185	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs3816644	chr2:20212206-20212207	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556961636	chr2:20212289-20212290	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs573907581	chr2:20212331-20212332	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs541854715	chr2:20212361-20212362	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs562153429	chr2:20212431-20212432	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs188620236	chr2:20212468-20212469	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs375765000	chr2:20212474-20212475	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs8176066	chr2:20212475-20212476	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs541489709	chr2:20212522-20212523	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs564590803	chr2:20212543-20212544	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs191887902	chr2:20212601-20212602	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs62109424	chr2:20212647-20212648	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570253007	chr2:20212667-20212668	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs192782979	chr2:20212701-20212702	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs529635220	chr2:20212702-20212703	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs183319610	chr2:20212703-20212704	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs369672778	chr2:20212732-20212733	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs373818691	chr2:20212738-20212739	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs141193443	chr2:20212820-20212821	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs73220322	chr2:20212864-20212865	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571044170	chr2:20212928-20212929	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs62109425	chr2:20212942-20212943	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs150754964	chr2:20212957-20212958	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs573843628	chr2:20212985-20212986	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs188336790	chr2:20212997-20212998	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs552994714	chr2:20213012-20213013	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs138268578	chr2:20213017-20213018	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs191628136	chr2:20213025-20213026	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs143992331	chr2:20213028-20213029	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs578161190	chr2:20213104-20213105	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs75297878	chr2:20213126-20213127	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs373225393	chr2:20213165-20213166	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs546638516	chr2:20213171-20213172	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs567175560	chr2:20213208-20213209	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs532827169	chr2:20213215-20213216	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs549625999	chr2:20213221-20213222	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs552821947	chr2:20213225-20213226	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs147314519	chr2:20213255-20213256	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20190600-20211400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:20200200-20211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:20201800-20211400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:20201800-20212400	Weak transcription	Gastric	stomach
5	chr2:20210000-20211600	Flanking Active TSS	HepG2	liver
6	chr2:20210400-20211400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:20210400-20212800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:20210600-20211400	Enhancers	A549	lung
9	chr2:20210800-20211400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:20211000-20211400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:20211200-20211600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:20211200-20212000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:20211400-20211600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:20211400-20211600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr2:20211400-20211600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:20211400-20211600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr2:20211400-20211600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:20211400-20211600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:20211400-20211800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:20211400-20212000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:20211400-20212000	Flanking Active TSS	A549	lung
22	chr2:20211400-20213200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr2:20211600-20211800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:20211600-20211800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:20211600-20211800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr2:20211600-20211800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:20211600-20211800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:20211600-20211800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:20211600-20211800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:20211600-20211800	Bivalent Enhancer	Brain Hippocampus Middle	brain
31	chr2:20211600-20211800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
32	chr2:20211600-20211800	Enhancers	HUVEC	blood vessel
33	chr2:20211600-20211800	Bivalent Enhancer	NHEK	skin
34	chr2:20211600-20212000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr2:20211600-20212000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
36	chr2:20211600-20212000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr2:20211600-20212000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr2:20211600-20212000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:20211600-20212000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr2:20211600-20212000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
41	chr2:20211600-20212000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
42	chr2:20211600-20212000	Bivalent Enhancer	Adipose Nuclei	Adipose
43	chr2:20211600-20212000	Bivalent Enhancer	Liver	Liver
44	chr2:20211600-20212000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:20211600-20212000	Enhancers	Brain Substantia Nigra	brain
46	chr2:20211600-20212000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
47	chr2:20211600-20212000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr2:20211600-20212000	Enhancers	Ovary	ovary
49	chr2:20211600-20212000	Bivalent/Poised TSS	Hela-S3	cervix
50	chr2:20211600-20212000	Flanking Bivalent TSS/Enh	HepG2	liver

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