Variant report

Variant	esv3445359
Chromosome Location	chr1:228743029-228783527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1828)
CpG islands
(count:734)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1828 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:228783364-228783625	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:228743385-228743565	HepG2	liver:	n/a	n/a
3	ATF3	chr1:228783161-228783846	A549	lung:	n/a	n/a
4	ATF3	chr1:228743369-228743629	K562	blood:	n/a	n/a
5	BACH1	chr1:228782482-228782665	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL11A	chr1:228756724-228756902	GM12878	blood:	n/a	chr1:228756756-228756769 chr1:228756760-228756769 chr1:228756837-228756850 chr1:228756750-228756763 chr1:228756749-228756762
7	BCL3	chr1:228757836-228758031	GM12878	blood:	n/a	n/a
8	BCL3	chr1:228771159-228771418	GM12878	blood:	n/a	n/a
9	BCL3	chr1:228757842-228758009	GM12878	blood:	n/a	n/a
10	BCL3	chr1:228782408-228783961	A549	lung:	n/a	chr1:228783302-228783315 chr1:228783943-228783956 chr1:228783147-228783156 chr1:228782764-228782773
11	BCL3	chr1:228782396-228784122	A549	lung:	n/a	chr1:228784016-228784025 chr1:228783302-228783315 chr1:228783943-228783956 chr1:228783147-228783156 chr1:228782764-228782773
12	BHLHE40	chr1:228745511-228745711	HepG2	liver:	n/a	chr1:228745571-228745587 chr1:228745576-228745592
13	BHLHE40	chr1:228771339-228771364	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:228771166-228771539	K562	blood:	n/a	n/a
15	BHLHE40	chr1:228782393-228782773	K562	blood:	n/a	n/a
16	BHLHE40	chr1:228747752-228747952	HepG2	liver:	n/a	chr1:228747812-228747828 chr1:228747817-228747833
17	BHLHE40	chr1:228782373-228782758	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:228782486-228782780	HepG2	liver:	n/a	n/a
19	BRCA1	chr1:228771344-228771359	GM12878	blood:	n/a	n/a
20	BRCA1	chr1:228782522-228782954	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr1:228783354-228784332	Hela-S3	cervix:	n/a	chr1:228783960-228783967
22	CBX3	chr1:228767906-228768647	K562	blood:	n/a	n/a
23	CBX3	chr1:228765596-228766337	K562	blood:	n/a	n/a
24	CBX3	chr1:228759936-228766629	K562	blood:	n/a	n/a
25	CBX3	chr1:228746546-228747624	K562	blood:	n/a	n/a
26	CBX3	chr1:228753214-228754269	K562	blood:	n/a	n/a
27	CBX3	chr1:228756779-228759666	K562	blood:	n/a	n/a
28	CBX3	chr1:228770193-228771056	K562	blood:	n/a	n/a
29	CBX3	chr1:228764417-228765547	K562	blood:	n/a	n/a
30	CBX3	chr1:228770156-228772097	K562	blood:	n/a	n/a
31	CBX3	chr1:228763642-228764366	K562	blood:	n/a	n/a
32	CBX3	chr1:228776817-228778581	K562	blood:	n/a	n/a
33	CBX3	chr1:228780079-228780837	K562	blood:	n/a	n/a
34	CBX3	chr1:228747705-228750045	K562	blood:	n/a	n/a
35	CBX3	chr1:228768957-228769762	K562	blood:	n/a	n/a
36	CBX3	chr1:228774646-228775517	K562	blood:	n/a	n/a
37	CBX3	chr1:228755385-228756425	K562	blood:	n/a	n/a
38	CBX3	chr1:228752250-228753181	K562	blood:	n/a	n/a
39	CBX3	chr1:228768708-228770057	K562	blood:	n/a	n/a
40	CBX3	chr1:228744029-228745432	K562	blood:	n/a	n/a
41	CBX3	chr1:228767896-228768693	K562	blood:	n/a	n/a
42	CBX3	chr1:228752230-228754427	K562	blood:	n/a	n/a
43	CBX3	chr1:228771125-228772105	K562	blood:	n/a	n/a
44	CBX3	chr1:228754548-228755287	K562	blood:	n/a	n/a
45	CBX3	chr1:228779767-228780083	K562	blood:	n/a	n/a
46	CBX3	chr1:228744333-228746248	K562	blood:	n/a	n/a
47	CBX3	chr1:228760952-228762196	K562	blood:	n/a	n/a
48	CBX3	chr1:228748818-228752205	K562	blood:	n/a	n/a
49	CBX3	chr1:228773494-228774641	K562	blood:	n/a	n/a
50	CBX3	chr1:228772113-228773276	K562	blood:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228782809-228782859	AG09319	gingival:	n/a
2	chr1:228743373-228743423	AG09319	gingival:	n/a
3	chr1:228782809-228782859	AG09319	gingival:	n/a
4	chr1:228743373-228743423	AG09319	gingival:	n/a
5	chr1:228756714-228756764	HCM	heart:	n/a
6	chr1:228743131-228743181	NB4	blood:	n/a
7	chr1:228756789-228756839	SK-N-SH	brain:	n/a
8	chr1:228743131-228743181	HL-60	blood:	n/a
9	chr1:228743373-228743423	AG04449	skin:	fetal
10	chr1:228756711-228756761	IMR90	lung:	fetal
11	chr1:228743373-228743423	RPTEC	kidney:	n/a
12	chr1:228744111-228744161	ECC-1	luminal epithelium:	n/a
13	chr1:228743131-228743181	U87	brain:	n/a
14	chr1:228756789-228756839	T-47D	breast:	n/a
15	chr1:228783383-228783433	T-47D	breast:	n/a
16	chr1:228756789-228756839	GM12891	blood:	n/a
17	chr1:228773514-228773564	T-47D	breast:	n/a
18	chr1:228783383-228783433	GM12891	blood:	n/a
19	chr1:228783274-228783324	BJ	skin:	n/a
20	chr1:228744111-228744161	BE2_C	brain:	n/a
21	chr1:228783383-228783433	SK-N-MC	brain:	n/a
22	chr1:228756711-228756761	CMK	blood:	n/a
23	chr1:228744111-228744161	Caco-2	colon:	n/a
24	chr1:228756711-228756761	HCM	heart:	n/a
25	chr1:228744111-228744161	GM12891	blood:	n/a
26	chr1:228773514-228773564	RPTEC	kidney:	n/a
27	chr1:228743373-228743423	Caco-2	colon:	n/a
28	chr1:228783274-228783324	SAEC	small airway:	n/a
29	chr1:228783383-228783433	ProgFib	skin:	n/a
30	chr1:228773514-228773564	SK-N-SH	brain:	n/a
31	chr1:228743373-228743423	SK-N-SH	brain:	n/a
32	chr1:228782809-228782859	HIPEpiC	eye:	n/a
33	chr1:228744111-228744161	SKMC	muscle:	n/a
34	chr1:228773464-228773514	HRE	kidney:	n/a
35	chr1:228783274-228783324	Caco-2	colon:	n/a
36	chr1:228756714-228756764	HMEC	breast:	n/a
37	chr1:228756789-228756839	HCT-116	colon:	n/a
38	chr1:228756714-228756764	NHBE	bronchial:	n/a
39	chr1:228756711-228756761	NHBE	bronchial:	n/a
40	chr1:228773514-228773564	HCPEpiC	choroid plexus:	n/a
41	chr1:228756711-228756761	PFSK-1	brain:	n/a
42	chr1:228756789-228756839	A549	lung:	n/a
43	chr1:228756714-228756764	T-47D	breast:	n/a
44	chr1:228783274-228783324	HIPEpiC	eye:	n/a
45	chr1:228782809-228782859	ECC-1	luminal epithelium:	n/a
46	chr1:228756711-228756761	SK-N-MC	brain:	n/a
47	chr1:228782809-228782859	AG04450	lung:	fetal
48	chr1:228773464-228773514	IMR90	lung:	fetal
49	chr1:228773464-228773514	Hela-S3	cervix:	n/a
50	chr1:228756789-228756839	BE2_C	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228783138..228784040-chr9:140135254..140135781,2	HCT-116	colon:
2	chr1:228783070..228784014-chr12:123011279..123011841,2	Hela-S3	cervix:
3	chr1:228782241..228785119-chr1:228785249..228788137,2	K562	blood:
4	chr1:228783048..228783985-chr16:3070059..3070679,2	HCT-116	colon:
5	chr1:228783073..228784051-chr7:5569241..5569745,2	Hela-S3	cervix:
6	chr1:17231506..17232339-chr1:228782832..228783652,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
RNA5S3	TF binding region
RNA5S17	TF binding region
RNA5S7	TF binding region
RNA5S1	TF binding region
RNA5S13	TF binding region
RNA5S10	TF binding region
RNA5S5	TF binding region
RNA5S4	TF binding region
RNA5S15	TF binding region
RNA5SP19	TF binding region
RNA5S6	TF binding region
ENSG00000206878	TF binding region
DUSP5P1	TF binding region
RNA5S2	TF binding region
RNA5S8	TF binding region
RNA5S12	TF binding region
RNA5S9	TF binding region
RNA5S14	TF binding region
RNA5S11	TF binding region
RNA5S16	TF binding region
RNA5S3	CpG island
RNA5S17	CpG island
RNA5S7	CpG island
RNA5S1	CpG island
RNA5S13	CpG island
RNA5S10	CpG island
RNA5S5	CpG island
RNA5S4	CpG island
RNA5S15	CpG island
RNA5SP19	CpG island
RNA5S6	CpG island
ENSG00000206878	CpG island
DUSP5P1	CpG island
RNA5S2	CpG island
RNA5S8	CpG island
RNA5S12	CpG island
RNA5S9	CpG island
RNA5S14	CpG island
RNA5S11	CpG island
RNA5S16	CpG island
ENSG00000075624	chromatin interactions
ENSG00000183929	chromatin interactions
ENSG00000184697	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000184445	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000006327	chromatin interactions

Extended variants
information (count: 582 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549124944	chr1:228743051-228743052	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs138270838	chr1:228743058-228743059	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs185936516	chr1:228743060-228743061	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs530575112	chr1:228743086-228743087	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs550284200	chr1:228743088-228743089	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs570560163	chr1:228743127-228743128	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs539110981	chr1:228743129-228743130	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs190645029	chr1:228743141-228743142	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
9	rs566280656	chr1:228743150-228743151	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
10	rs142773872	chr1:228743151-228743152	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
11	rs370138941	chr1:228743163-228743164	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
12	rs79963770	chr1:228743177-228743178	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
13	rs575448463	chr1:228743194-228743195	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs544623955	chr1:228743215-228743216	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs72765760	chr1:228743222-228743223	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs578156654	chr1:228743230-228743231	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs540704290	chr1:228743238-228743239	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	CpG island	2 gene(s)	Overlapped CNVs	n/a
18	rs560672093	chr1:228743243-228743244	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	CpG island	2 gene(s)	Overlapped CNVs	n/a
19	rs376681534	chr1:228743245-228743246	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	CpG island	2 gene(s)	Overlapped CNVs	n/a
20	rs529469880	chr1:228743282-228743283	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
21	rs572192116	chr1:228743285-228743286	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
22	rs146049887	chr1:228743288-228743289	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs140192319	chr1:228743295-228743296	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs142445376	chr1:228743302-228743303	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs369050710	chr1:228743305-228743306	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs533732062	chr1:228743308-228743309	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs372501771	chr1:228743326-228743327	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs12028431	chr1:228743331-228743332	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543030332	chr1:228743350-228743351	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs532865004	chr1:228743360-228743361	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs546245368	chr1:228743364-228743365	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs115001639	chr1:228743395-228743396	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
33	rs535314549	chr1:228743396-228743397	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
34	rs548885954	chr1:228743399-228743400	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
35	rs181970276	chr1:228743402-228743403	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
36	rs537716676	chr1:228743404-228743405	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
37	rs370301490	chr1:228743409-228743410	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
38	rs368274851	chr1:228743410-228743411	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
39	rs558155561	chr1:228743423-228743424	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
40	rs536305191	chr1:228743432-228743433	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs534297928	chr1:228743434-228743435	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs187057648	chr1:228743438-228743439	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs574160417	chr1:228743445-228743446	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs554277442	chr1:228743448-228743449	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs562905266	chr1:228743456-228743457	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs576694942	chr1:228743473-228743474	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs545328121	chr1:228743480-228743481	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs563746282	chr1:228743491-228743492	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs373656486	chr1:228743492-228743493	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs28654108	chr1:228743496-228743497	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:601 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228742800-228743200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr1:228742800-228743200	Bivalent Enhancer	Placenta	Placenta
3	chr1:228742800-228743400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:228742800-228743400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:228743000-228743200	Bivalent/Poised TSS	HepG2	liver
6	chr1:228743000-228743400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:228743000-228743600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:228743000-228744000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:228743200-228743600	Active TSS	HepG2	liver
10	chr1:228743200-228744000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:228743400-228743800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:228743800-228744000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:228756400-228756600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:228756400-228756800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:228756600-228756800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:228756600-228756800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr1:228756600-228756800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
21	chr1:228756600-228756800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
23	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
24	chr1:228756600-228756800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:228756600-228756800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:228756600-228756800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr1:228756600-228756800	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr1:228756600-228756800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr1:228756600-228756800	Bivalent Enhancer	Fetal Thymus	thymus
36	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	Gastric	stomach
37	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
38	chr1:228756600-228756800	Bivalent/Poised TSS	Small Intestine	intestine
39	chr1:228756600-228756800	Flanking Bivalent TSS/Enh	Spleen	Spleen
40	chr1:228756600-228757000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:228756600-228757000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:228756600-228757000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:228756600-228757000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:228756600-228757000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr1:228756600-228757000	Enhancers	Primary B cells from peripheral blood	blood
46	chr1:228756600-228757000	Active TSS	Primary T cells from cord blood	blood
47	chr1:228756600-228757000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr1:228756600-228757000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr1:228756600-228757000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:228756600-228757000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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