Variant report

Variant	esv3421822
Chromosome Location	chr2:234262038-234264786
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	ATF2	chr2:234262604-234263118	GM12878	blood:	n/a	n/a
2	BACH1	chr2:234263723-234263984	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr2:234263832-234264395	A549	lung:	n/a	n/a
4	BCLAF1	chr2:234262238-234262967	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:234262241-234262644	K562	blood:	n/a	n/a
6	BHLHE40	chr2:234263584-234263970	GM12878	blood:	n/a	chr2:234263690-234263706 chr2:234263683-234263699
7	CCNT2	chr2:234262308-234262911	K562	blood:	n/a	chr2:234262453-234262473
8	CCNT2	chr2:234263138-234263393	K562	blood:	n/a	n/a
9	CHD1	chr2:234263792-234263916	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr2:234262645-234263169	GM12878	blood:	n/a	n/a
11	CHD2	chr2:234262322-234263203	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr2:234263733-234263918	GM12878	blood:	n/a	n/a
13	CHD2	chr2:234262889-234262951	HepG2	liver:	n/a	n/a
14	CHD2	chr2:234262554-234262887	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr2:234263143-234263404	A549	lung:	n/a	n/a
16	CTCF	chr2:234262882-234263080	SK-N-SH_RA	brain:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
17	CTCF	chr2:234262940-234263090	GM12870	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
18	CTCF	chr2:234262900-234263050	WERI-Rb-1	eye:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
19	CTCF	chr2:234262920-234263070	HCPEpiC	choroid plexus:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
20	CTCF	chr2:234262940-234263090	HCT-116	colon:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
21	CTCF	chr2:234262920-234263070	GM12875	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
22	CTCF	chr2:234262920-234263070	K562	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
23	CTCF	chr2:234262900-234263050	GM12867	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
24	CTCF	chr2:234262914-234263133	GM12891	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
25	CTCF	chr2:234262920-234263070	GM12872	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
26	CTCF	chr2:234262940-234263090	GM12878	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
27	CTCF	chr2:234262900-234263050	HA-sp	spinal cord:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
28	CTCF	chr2:234262880-234263030	HEK293	kidney:	n/a	n/a
29	CTCF	chr2:234262938-234263114	LNCaP	prostate:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
30	CTCF	chr2:234263000-234263150	HPAF	blood vessel:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
31	CTCF	chr2:234262919-234263107	Medullo	brain:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
32	CTCF	chr2:234262900-234263050	GM12864	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
33	CTCF	chr2:234262800-234262809	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:234262940-234263090	MCF-7	breast:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
35	CTCF	chr2:234262900-234263050	HCPEpiC	choroid plexus:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
36	CTCF	chr2:234262640-234262790	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr2:234262920-234263070	AG09319	gingival:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
38	CTCF	chr2:234262900-234263050	HepG2	liver:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
39	CTCF	chr2:234262689-234262773	K562	blood:	n/a	n/a
40	CTCF	chr2:234262940-234263090	AG04449	skin:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
41	CTCF	chr2:234262900-234263050	HPF	lung:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
42	CTCF	chr2:234262151-234262152	GM12891	blood:	n/a	n/a
43	CTCF	chr2:234262600-234262750	SAEC	small airway:	n/a	n/a
44	CTCF	chr2:234262900-234263050	HBMEC	blood vessel:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
45	CTCF	chr2:234262912-234263165	LNCaP	prostate:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
46	CTCF	chr2:234262920-234263070	SAEC	small airway:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
47	CTCF	chr2:234262680-234262830	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr2:234262959-234263096	GM12878	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
49	CTCF	chr2:234262693-234262820	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr2:234262540-234262690	HPF	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234262710-234262760	NHBE	bronchial:	n/a
2	chr2:234262964-234263014	HUVEC	blood vessel:	n/a
3	chr2:234262784-234262834	A549	lung:	n/a
4	chr2:234262348-234262398	PrEC	prostate:	n/a
5	chr2:234264163-234264213	K562	blood:	n/a
6	chr2:234262710-234262760	SK-N-SH	brain:	n/a
7	chr2:234262978-234263028	HCM	heart:	n/a
8	chr2:234262978-234263028	SAEC	small airway:	n/a
9	chr2:234262784-234262834	HRCEpiC	kidney:	n/a
10	chr2:234263768-234263818	HRCEpiC	kidney:	n/a
11	chr2:234264163-234264213	GM19239	blood:	n/a
12	chr2:234263768-234263818	A549	lung:	n/a
13	chr2:234262964-234263014	HRCEpiC	kidney:	n/a
14	chr2:234262978-234263028	HUVEC	blood vessel:	n/a
15	chr2:234262710-234262760	PrEC	prostate:	n/a
16	chr2:234262710-234262760	MCF10A-Er-Src	breast:	n/a
17	chr2:234263251-234263301	K562	blood:	n/a
18	chr2:234263768-234263818	LNCaP	prostate:	n/a
19	chr2:234263251-234263301	BJ	skin:	n/a
20	chr2:234263768-234263818	K562	blood:	n/a
21	chr2:234262348-234262398	PFSK-1	brain:	n/a
22	chr2:234262952-234263002	ovcar-3	ovarian:	n/a
23	chr2:234262710-234262760	AoSMC	blood vessel:	n/a
24	chr2:234262952-234263002	HL-60	blood:	n/a
25	chr2:234263251-234263301	HL-60	blood:	n/a
26	chr2:234262784-234262834	NB4	blood:	n/a
27	chr2:234263251-234263301	MCF10A-Er-Src	breast:	n/a
28	chr2:234264163-234264213	SAEC	small airway:	n/a
29	chr2:234262978-234263028	HIPEpiC	eye:	n/a
30	chr2:234262952-234263002	H1-hESC	embryonic stem cell:	embryo
31	chr2:234264163-234264213	HCPEpiC	choroid plexus:	n/a
32	chr2:234262348-234262398	GM12892	blood:	n/a
33	chr2:234263768-234263818	MCF-7	breast:	n/a
34	chr2:234262978-234263028	HRCEpiC	kidney:	n/a
35	chr2:234263251-234263301	Jurkat	blood:	n/a
36	chr2:234263768-234263818	GM12892	blood:	n/a
37	chr2:234264163-234264213	HL-60	blood:	n/a
38	chr2:234262784-234262834	GM12878	blood:	n/a
39	chr2:234263768-234263818	HRPEpiC	eye:	n/a
40	chr2:234262978-234263028	HEEpiC	esophagus:	n/a
41	chr2:234263251-234263301	RPTEC	kidney:	n/a
42	chr2:234262964-234263014	HCT-116	colon:	n/a
43	chr2:234262952-234263002	LNCaP	prostate:	n/a
44	chr2:234262710-234262760	NH-A	brain:	n/a
45	chr2:234262784-234262834	ProgFib	skin:	n/a
46	chr2:234262952-234263002	ECC-1	luminal epithelium:	n/a
47	chr2:234262964-234263014	HPAEpiC	pulmonary alveolar:	n/a
48	chr2:234262964-234263014	AG04450	lung:	fetal
49	chr2:234262348-234262398	SK-N-SH_RA	brain:	n/a
50	chr2:234263251-234263301	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234264479..234266031-chr2:234270714..234272402,2	K562	blood:
2	chr2:234263404..234265699-chr2:234319043..234321996,3	MCF-7	breast:
3	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:
4	chr2:234260930..234263276-chr20:55839671..55841991,2	MCF-7	breast:
5	chr2:234263725..234265766-chr2:234287688..234290576,3	MCF-7	breast:
6	chr2:234238246..234240780-chr2:234263095..234264681,2	K562	blood:
7	chr2:234242282..234244298-chr2:234262922..234265541,2	MCF-7	breast:
8	chr2:234163205..234166188-chr2:234263952..234265730,2	MCF-7	breast:
9	chr2:234160002..234161727-chr2:234263204..234265213,2	MCF-7	breast:
10	chr2:234159288..234161886-chr2:234264094..234265602,2	MCF-7	breast:
11	chr2:234195095..234197515-chr2:234263227..234265841,2	MCF-7	breast:
12	chr2:233749631..233751772-chr2:234261254..234263295,2	MCF-7	breast:
13	chr2:234245499..234247293-chr2:234261946..234264130,2	K562	blood:
14	chr2:234198551..234200102-chr2:234262598..234264638,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP40-1	chr2:234259778-234262062	ENSG00000259793.1
2	lnc-USP40-1	chr2:234260441-234262062	NONHSAT077479

Variant related genes	Relation type
DGKD	TF binding region
ENSG00000259793	TF binding region
ENSG00000243637	TF binding region
DGKD	CpG island
ENSG00000259793	CpG island
ENSG00000243637	CpG island
ENSG00000226308	chromatin interactions
ENSG00000130561	chromatin interactions
ENSG00000085978	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000251791	chromatin interactions
ENSG00000077044	chromatin interactions
ENSG00000201013	chromatin interactions
ENSG00000066248	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74320205	chr2:234262152-234262153	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs367899551	chr2:234262207-234262208	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs386656346	chr2:234262210-234262211	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs59044229	chr2:234262212-234262213	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs75644749	chr2:234262255-234262256	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs528631313	chr2:234262305-234262306	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs190719090	chr2:234262349-234262350	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs569223710	chr2:234262378-234262379	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs143496448	chr2:234262391-234262392	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs148018243	chr2:234262392-234262393	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs567232105	chr2:234262414-234262415	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs536384459	chr2:234262471-234262472	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs552688452	chr2:234262514-234262515	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs572832085	chr2:234262545-234262546	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs545034884	chr2:234262568-234262569	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs377355256	chr2:234262582-234262583	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs558859119	chr2:234262585-234262586	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs73995918	chr2:234262663-234262664	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544400223	chr2:234262754-234262755	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs183133099	chr2:234262779-234262780	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs530127844	chr2:234262829-234262830	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs533975674	chr2:234262860-234262861	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs115485962	chr2:234262920-234262921	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs369472590	chr2:234262950-234262951	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs373884985	chr2:234262965-234262966	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs200819727	chr2:234262973-234262974	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs2340832	chr2:234262974-234262975	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs186389146	chr2:234263011-234263012	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs191197082	chr2:234263449-234263450	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs532337881	chr2:234263655-234263656	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs552173826	chr2:234263670-234263671	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs562556803	chr2:234263724-234263725	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs569185364	chr2:234263742-234263743	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs531914131	chr2:234263776-234263777	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs548484365	chr2:234263800-234263801	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs370408026	chr2:234263801-234263802	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs534130831	chr2:234263889-234263890	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs552994146	chr2:234263891-234263892	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs566589172	chr2:234263895-234263896	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs531822062	chr2:234263927-234263928	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs558615717	chr2:234263983-234263984	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs182562646	chr2:234264030-234264031	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs187881669	chr2:234264044-234264045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs554465475	chr2:234264088-234264089	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs1372098	chr2:234264093-234264094	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs574534451	chr2:234264105-234264106	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs372150117	chr2:234264108-234264109	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs547569257	chr2:234264118-234264119	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs560604493	chr2:234264141-234264142	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs191023499	chr2:234264178-234264179	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	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	chr2:234255800-234262400	Weak transcription	Right Atrium	heart
2	chr2:234256400-234262400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr2:234256800-234262400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:234257000-234262200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:234257800-234263000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:234258200-234262600	Weak transcription	Psoas Muscle	Psoas
7	chr2:234258400-234262200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:234258400-234262400	Weak transcription	Ovary	ovary
9	chr2:234258600-234262200	Weak transcription	Primary T cells from cord blood	blood
10	chr2:234258600-234262400	Weak transcription	Fetal Kidney	kidney
11	chr2:234258800-234262600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:234259200-234262400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:234259400-234262400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:234259400-234263200	Weak transcription	Small Intestine	intestine
15	chr2:234259600-234262200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:234259800-234262200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:234259800-234262400	Weak transcription	HSMMtube	muscle
18	chr2:234259800-234262400	Weak transcription	NHLF	lung
19	chr2:234260000-234262200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:234260000-234262200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:234260200-234262200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:234260200-234262400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:234260200-234262400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:234260400-234262200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:234260400-234262200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:234260400-234262200	Weak transcription	HMEC	breast
27	chr2:234260400-234262200	Weak transcription	HUVEC	blood vessel
28	chr2:234260400-234262400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:234260400-234262400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:234260400-234262400	Weak transcription	HSMM	muscle
31	chr2:234260400-234262400	Weak transcription	NH-A	brain
32	chr2:234260400-234262400	Weak transcription	NHDF-Ad	bronchial
33	chr2:234260400-234262400	Weak transcription	Osteobl	bone
34	chr2:234260400-234262600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:234261000-234262200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:234261000-234262400	Enhancers	Liver	Liver
37	chr2:234261200-234262400	Enhancers	Placenta	Placenta
38	chr2:234261400-234262200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:234261400-234262400	Enhancers	K562	blood
40	chr2:234261400-234262800	Flanking Active TSS	GM12878-XiMat	blood
41	chr2:234261400-234263000	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr2:234261600-234262200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:234261600-234262200	Enhancers	Brain Hippocampus Middle	brain
44	chr2:234261600-234262200	Enhancers	A549	lung
45	chr2:234261600-234262800	Enhancers	Stomach Mucosa	stomach
46	chr2:234261600-234262800	Flanking Active TSS	Hela-S3	cervix
47	chr2:234261800-234262200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:234261800-234262200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:234261800-234262200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr2:234261800-234262200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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