Variant report

Variant	esv1820563
Chromosome Location	chr2:234263212-234282210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:299)
CpG islands
(count:244)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:234269125-234269671	K562	blood:	n/a	n/a
2	ATF2	chr2:234272299-234272984	GM12878	blood:	n/a	n/a
3	BACH1	chr2:234263723-234263984	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr2:234263832-234264395	A549	lung:	n/a	n/a
5	BCLAF1	chr2:234272334-234272873	GM12878	blood:	n/a	n/a
6	BCLAF1	chr2:234266970-234267551	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:234263584-234263970	GM12878	blood:	n/a	chr2:234263690-234263706 chr2:234263683-234263699
8	BHLHE40	chr2:234281609-234281863	K562	blood:	n/a	n/a
9	CCNT2	chr2:234269362-234269721	K562	blood:	n/a	n/a
10	CCNT2	chr2:234263138-234263393	K562	blood:	n/a	n/a
11	CEBPB	chr2:234278645-234278752	K562	blood:	n/a	n/a
12	CEBPB	chr2:234278545-234278864	IMR90	lung:	n/a	n/a
13	CEBPB	chr2:234280226-234280235	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr2:234265594-234265744	K562	blood:	n/a	n/a
15	CEBPB	chr2:234278535-234278834	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:234278580-234278809	A549	lung:	n/a	n/a
17	CEBPB	chr2:234265550-234265861	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:234265448-234265859	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr2:234269285-234269795	K562	blood:	n/a	n/a
20	CEBPD	chr2:234269362-234269682	K562	blood:	n/a	n/a
21	CHD1	chr2:234263792-234263916	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr2:234263733-234263918	GM12878	blood:	n/a	n/a
23	CREB1	chr2:234263143-234263404	A549	lung:	n/a	n/a
24	CTCF	chr2:234265000-234265150	HepG2	liver:	n/a	n/a
25	CTCF	chr2:234262855-234263289	K562	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
26	CTCF	chr2:234268656-234268709	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:234269430-234269658	K562	blood:	n/a	n/a
28	CTCF	chr2:234262710-234263224	GM12878	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
29	CTCF	chr2:234265740-234265760	GM19240	blood:	n/a	n/a
30	CTCF	chr2:234262292-234263363	SK-N-SH	brain:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
31	CTCF	chr2:234269500-234269650	HepG2	liver:	n/a	n/a
32	CTCF	chr2:234269460-234269610	Caco-2	colon:	n/a	n/a
33	CTCF	chr2:234265720-234265748	GM12891	blood:	n/a	n/a
34	CTCF	chr2:234269440-234269590	Caco-2	colon:	n/a	n/a
35	CUX1	chr2:234269810-234270005	K562	blood:	n/a	n/a
36	E2F6	chr2:234263118-234263269	K562	blood:	n/a	n/a
37	EBF1	chr2:234265580-234265868	GM12878	blood:	n/a	n/a
38	EGR1	chr2:234262807-234263313	GM12878	blood:	n/a	chr2:234262958-234262968 chr2:234263073-234263087
39	EGR1	chr2:234262819-234263283	K562	blood:	n/a	chr2:234262958-234262968 chr2:234263073-234263087
40	EGR1	chr2:234262781-234263322	K562	blood:	n/a	chr2:234262958-234262968 chr2:234263073-234263087
41	ELF1	chr2:234262601-234263475	GM12878	blood:	n/a	n/a
42	ELF1	chr2:234263898-234264310	GM12878	blood:	n/a	n/a
43	EP300	chr2:234269388-234269711	K562	blood:	n/a	n/a
44	EP300	chr2:234267115-234267286	GM12878	blood:	n/a	n/a
45	ETS1	chr2:234263091-234263327	K562	blood:	n/a	n/a
46	FAM48A	chr2:234269355-234269425	GM12878	blood:	n/a	n/a
47	FAM48A	chr2:234268133-234268247	GM12878	blood:	n/a	n/a
48	FOS	chr2:234278654-234278890	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr2:234278705-234278855	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:234278691-234278813	MCF10A-Er-Src	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234263251-234263301	PANC-1	pancreas:	n/a
2	chr2:234264163-234264213	GM19239	blood:	n/a
3	chr2:234264163-234264213	SKMC	muscle:	n/a
4	chr2:234281690-234281740	NT2-D1	testis:	n/a
5	chr2:234281690-234281740	CMK	blood:	n/a
6	chr2:234263251-234263301	NHDF-neo	bronchial:	n/a
7	chr2:234281690-234281740	PANC-1	pancreas:	n/a
8	chr2:234263768-234263818	ovcar-3	ovarian:	n/a
9	chr2:234264163-234264213	AG09319	gingival:	n/a
10	chr2:234263251-234263301	SKMC	muscle:	n/a
11	chr2:234264163-234264213	HL-60	blood:	n/a
12	chr2:234263768-234263818	ECC-1	luminal epithelium:	n/a
13	chr2:234264163-234264213	HPAEpiC	pulmonary alveolar:	n/a
14	chr2:234263768-234263818	HNPCEpiC	eye:	n/a
15	chr2:234281690-234281740	SK-N-SH	brain:	n/a
16	chr2:234281690-234281740	Caco-2	colon:	n/a
17	chr2:234263251-234263301	ECC-1	luminal epithelium:	n/a
18	chr2:234281690-234281740	LNCaP	prostate:	n/a
19	chr2:234264163-234264213	Caco-2	colon:	n/a
20	chr2:234263768-234263818	Caco-2	colon:	n/a
21	chr2:234263251-234263301	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:234263251-234263301	T-47D	breast:	n/a
23	chr2:234281690-234281740	AG09309	skin:	n/a
24	chr2:234281690-234281740	HIPEpiC	eye:	n/a
25	chr2:234281690-234281740	SK-N-MC	brain:	n/a
26	chr2:234281690-234281740	NH-A	brain:	n/a
27	chr2:234281690-234281740	HRPEpiC	eye:	n/a
28	chr2:234263251-234263301	HEK293	kidney:	embryo
29	chr2:234281690-234281740	GM19239	blood:	n/a
30	chr2:234263251-234263301	AG09319	gingival:	n/a
31	chr2:234263768-234263818	NH-A	brain:	n/a
32	chr2:234281690-234281740	AG10803	skin:	n/a
33	chr2:234263251-234263301	HCF	heart:	n/a
34	chr2:234263251-234263301	NT2-D1	testis:	n/a
35	chr2:234281690-234281740	HCF	heart:	n/a
36	chr2:234263768-234263818	GM06990	blood:	n/a
37	chr2:234263768-234263818	NHDF-neo	bronchial:	n/a
38	chr2:234281690-234281740	NHBE	bronchial:	n/a
39	chr2:234281690-234281740	MCF10A-Er-Src	breast:	n/a
40	chr2:234281690-234281740	Hepatocyte	liver:	n/a
41	chr2:234264163-234264213	HCPEpiC	choroid plexus:	n/a
42	chr2:234264163-234264213	AoSMC	blood vessel:	n/a
43	chr2:234281690-234281740	BE2_C	brain:	n/a
44	chr2:234264163-234264213	HCF	heart:	n/a
45	chr2:234263768-234263818	GM12878	blood:	n/a
46	chr2:234281690-234281740	GM12891	blood:	n/a
47	chr2:234263251-234263301	PrEC	prostate:	n/a
48	chr2:234264163-234264213	PANC-1	pancreas:	n/a
49	chr2:234264163-234264213	IMR90	lung:	fetal
50	chr2:234263768-234263818	A549	lung:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234266865..234268565-chr2:234269887..234272310,2	K562	blood:
2	chr2:234262086..234263728-chr2:234268107..234269688,2	MCF-7	breast:
3	chr2:234266865..234268565-chr2:234269887..234272310,2	K562	blood:
4	chr2:234242282..234244298-chr2:234262922..234265541,2	MCF-7	breast:
5	chr2:234260930..234263276-chr20:55839671..55841991,2	MCF-7	breast:
6	chr2:234262735..234265593-chr2:234266002..234267611,2	K562	blood:
7	chr2:234263725..234265766-chr2:234287688..234290576,3	MCF-7	breast:
8	chr2:234261499..234266840-chr2:234267799..234272402,9	K562	blood:
9	chr2:234276899..234278989-chr2:234282956..234285583,2	K562	blood:
10	chr2:234238246..234240780-chr2:234263095..234264681,2	K562	blood:
11	chr2:234245499..234247293-chr2:234261946..234264130,2	K562	blood:
12	chr2:234262927..234266874-chr2:234267273..234270022,5	MCF-7	breast:
13	chr2:234264990..234266555-chr2:234275771..234278254,2	K562	blood:
14	chr2:234260877..234265191-chr2:234275776..234278717,4	K562	blood:
15	chr2:234160002..234161727-chr2:234263204..234265213,2	MCF-7	breast:
16	chr2:234195095..234197515-chr2:234263227..234265841,2	MCF-7	breast:
17	chr2:234268370..234271611-chr2:234272538..234274981,4	K562	blood:
18	chr2:234263404..234265699-chr2:234319043..234321996,3	MCF-7	breast:
19	chr2:234159288..234161886-chr2:234264094..234265602,2	MCF-7	breast:
20	chr2:234261747..234266752-chr2:234267799..234270221,5	K562	blood:
21	chr2:234268370..234271301-chr2:234272782..234274446,2	K562	blood:
22	chr2:234163205..234166188-chr2:234263952..234265730,2	MCF-7	breast:
23	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:
24	chr2:234265828..234267966-chr2:234273023..234275764,2	K562	blood:
25	chr2:234264479..234266031-chr2:234270714..234272402,2	K562	blood:
26	chr2:234282165..234285596-chr2:234285963..234289154,3	MCF-7	breast:
27	chr2:234264990..234266555-chr2:234275771..234278254,2	K562	blood:
28	chr2:234198551..234200102-chr2:234262598..234264638,2	MCF-7	breast:
29	chr2:234265828..234267966-chr2:234273023..234275764,2	K562	blood:
30	chr2:234268370..234271301-chr2:234272782..234274446,2	K562	blood:
31	chr2:233749631..233751772-chr2:234261254..234263295,2	MCF-7	breast:
32	chr2:234261878..234265511-chr2:234275799..234279097,3	MCF-7	breast:
33	chr2:234264479..234266031-chr2:234270714..234272402,2	K562	blood:
34	chr2:234268370..234271611-chr2:234272538..234274981,4	K562	blood:

No data

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

Extended variants
information (count: 756 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:756 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	rs545774589	chr2:234264199-234264200	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
24	rs1372099	chr2:234264211-234264212	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs562581024	chr2:234264241-234264242	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs116686041	chr2:234264265-234264266	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs548814097	chr2:234264269-234264270	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs562255908	chr2:234264287-234264288	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs567260642	chr2:234264357-234264358	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs183337864	chr2:234264438-234264439	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs150075838	chr2:234264466-234264467	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs114422374	chr2:234264478-234264479	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs116491413	chr2:234264480-234264481	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs67863435	chr2:234264490-234264491	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187282226	chr2:234264506-234264507	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs537446826	chr2:234264514-234264515	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs554814092	chr2:234264531-234264532	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs377067283	chr2:234264537-234264538	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs138538045	chr2:234264579-234264580	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs533965947	chr2:234264636-234264637	Bivalent Enhancer Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs73995919	chr2:234264653-234264654	Bivalent Enhancer Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs576915364	chr2:234264657-234264658	Bivalent Enhancer Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs544842472	chr2:234264684-234264685	Bivalent Enhancer Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs538185574	chr2:234264688-234264689	Bivalent Enhancer Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs545938527	chr2:234264716-234264717	Bivalent Enhancer Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs562643461	chr2:234264719-234264720	Bivalent Enhancer Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs576343024	chr2:234264724-234264725	Bivalent Enhancer Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs192011480	chr2:234264806-234264807	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs184465464	chr2:234264830-234264831	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs561421532	chr2:234264831-234264832	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region 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:1036 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234262000-234263800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr2:234262200-234264000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:234262200-234264000	Active TSS	Rectal Smooth Muscle	rectum
4	chr2:234262200-234264200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:234262400-234263600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:234262400-234263800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:234262400-234263800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:234262400-234264200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:234262400-234264400	Active TSS	Fetal Kidney	kidney
10	chr2:234262400-234265000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr2:234262600-234263600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:234262600-234263600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:234262600-234263800	Active TSS	Spleen	Spleen
14	chr2:234262600-234264000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:234262600-234264000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:234262600-234264000	Active TSS	Colon Smooth Muscle	Colon
17	chr2:234262600-234264000	Active TSS	Lung	lung
18	chr2:234262600-234264000	Bivalent/Poised TSS	HepG2	liver
19	chr2:234262600-234264200	Active TSS	Aorta	Aorta
20	chr2:234262600-234264200	Active TSS	Gastric	stomach
21	chr2:234262600-234264600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr2:234262600-234265000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr2:234262800-234263600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:234262800-234263600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:234262800-234263600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:234262800-234263600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:234262800-234263600	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr2:234262800-234263600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:234262800-234263600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:234262800-234263600	Active TSS	Adipose Nuclei	Adipose
31	chr2:234262800-234263600	Active TSS	Brain Germinal Matrix	brain
32	chr2:234262800-234263600	Active TSS	Fetal Muscle Trunk	muscle
33	chr2:234262800-234263600	Active TSS	Placenta	Placenta
34	chr2:234262800-234263600	Active TSS	Psoas Muscle	Psoas
35	chr2:234262800-234263600	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr2:234262800-234263600	Active TSS	Thymus	Thymus
37	chr2:234262800-234263800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:234262800-234263800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:234262800-234263800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:234262800-234263800	Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr2:234262800-234263800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:234262800-234263800	Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr2:234262800-234263800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr2:234262800-234263800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:234262800-234263800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:234262800-234263800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:234262800-234263800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:234262800-234263800	Active TSS	Brain Anterior Caudate	brain
49	chr2:234262800-234263800	Active TSS	Brain Cingulate Gyrus	brain
50	chr2:234262800-234263800	Active TSS	Brain Inferior Temporal Lobe	brain

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