Variant report

Variant	esv3425958
Chromosome Location	chr1:226410154-226412702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:226)
CpG islands
(count:794)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:226 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:226410737-226411118	HepG2	liver:	n/a	n/a
2	BACH1	chr1:226411781-226411906	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:226411172-226411387	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:226410854-226411899	HepG2	liver:	n/a	chr1:226411233-226411249
5	BHLHE40	chr1:226411368-226411513	GM12878	blood:	n/a	n/a
6	CCNT2	chr1:226411462-226411884	K562	blood:	n/a	n/a
7	CEBPB	chr1:226410732-226411150	HepG2	liver:	n/a	n/a
8	CEBPD	chr1:226410801-226411448	HepG2	liver:	n/a	n/a
9	CHD1	chr1:226411779-226411791	GM12878	blood:	n/a	n/a
10	CHD2	chr1:226410855-226411344	HepG2	liver:	n/a	n/a
11	CHD2	chr1:226411656-226411847	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr1:226411384-226411942	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr1:226411487-226411723	A549	lung:	n/a	n/a
14	CREB1	chr1:226411472-226412042	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr1:226411119-226411365	A549	lung:	n/a	n/a
16	CTCF	chr1:226411540-226411690	AG09319	gingival:	n/a	n/a
17	CTCF	chr1:226411834-226411905	GM19240	blood:	n/a	n/a
18	CTCF	chr1:226411582-226411706	GM20000	blood:	n/a	n/a
19	CTCF	chr1:226411600-226411750	GM12873	blood:	n/a	n/a
20	CTCF	chr1:226411546-226411715	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr1:226411387-226411838	K562	blood:	n/a	n/a
22	CTCF	chr1:226411475-226411694	K562	blood:	n/a	n/a
23	CTCF	chr1:226411600-226411750	AG09319	gingival:	n/a	n/a
24	CTCF	chr1:226411580-226411730	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr1:226411497-226411715	A549	lung:	n/a	n/a
26	CTCF	chr1:226411558-226411746	ProgFib	skin:	n/a	n/a
27	CTCF	chr1:226411520-226411670	AG04449	skin:	n/a	n/a
28	CTCF	chr1:226411560-226411710	GM12865	blood:	n/a	n/a
29	CTCF	chr1:226411570-226411693	K562	blood:	n/a	n/a
30	CTCF	chr1:226411542-226411725	GM13977	blood:	n/a	n/a
31	CTCF	chr1:226411511-226411919	GM12892	blood:	n/a	n/a
32	CTCF	chr1:226411631-226411681	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr1:226411558-226411748	Fibrobl	skin:	n/a	n/a
34	CTCF	chr1:226411580-226411730	HepG2	liver:	n/a	n/a
35	CTCF	chr1:226411740-226411890	AG09319	gingival:	n/a	n/a
36	CTCF	chr1:226411600-226411750	HPF	lung:	n/a	n/a
37	CTCF	chr1:226411831-226411919	Fibrobl	skin:	n/a	n/a
38	CTCF	chr1:226411540-226411690	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr1:226411580-226411730	GM12869	blood:	n/a	n/a
40	CTCF	chr1:226411560-226411710	GM12866	blood:	n/a	n/a
41	CTCF	chr1:226411260-226411410	GM12871	blood:	n/a	n/a
42	CTCF	chr1:226411580-226411730	GM12864	blood:	n/a	n/a
43	CTCF	chr1:226411560-226411710	SAEC	small airway:	n/a	n/a
44	CTCF	chr1:226411546-226411742	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr1:226411571-226411702	NHEK	skin:	n/a	n/a
46	CTCF	chr1:226411620-226411770	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr1:226411560-226411710	GM12873	blood:	n/a	n/a
48	CTCF	chr1:226411640-226411790	BE2_C	brain:	n/a	n/a
49	CTCF	chr1:226411554-226411733	Medullo	brain:	n/a	n/a
50	CTCF	chr1:226411640-226411790	GM12864	blood:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226411259-226411309	IMR90	lung:	fetal
2	chr1:226411259-226411309	IMR90	lung:	fetal
3	chr1:226411818-226411868	AG09309	skin:	n/a
4	chr1:226411057-226411107	HIPEpiC	eye:	n/a
5	chr1:226411033-226411083	GM12878	blood:	n/a
6	chr1:226411247-226411297	CMK	blood:	n/a
7	chr1:226411259-226411309	Jurkat	blood:	n/a
8	chr1:226411033-226411083	HRCEpiC	kidney:	n/a
9	chr1:226411057-226411107	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:226411954-226412004	Hela-S3	cervix:	n/a
11	chr1:226411259-226411309	GM12892	blood:	n/a
12	chr1:226411033-226411083	HUVEC	blood vessel:	n/a
13	chr1:226410197-226410247	ovcar-3	ovarian:	n/a
14	chr1:226410871-226410921	ovcar-3	ovarian:	n/a
15	chr1:226411247-226411297	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:226410197-226410247	SK-N-SH_RA	brain:	n/a
17	chr1:226410871-226410921	SK-N-SH	brain:	n/a
18	chr1:226411715-226411765	HCM	heart:	n/a
19	chr1:226411270-226411320	SAEC	small airway:	n/a
20	chr1:226410197-226410247	GM12891	blood:	n/a
21	chr1:226411868-226411918	HCT-116	colon:	n/a
22	chr1:226411070-226411120	BE2_C	brain:	n/a
23	chr1:226411259-226411309	MCF10A-Er-Src	breast:	n/a
24	chr1:226411259-226411309	A549	lung:	n/a
25	chr1:226411070-226411120	RPTEC	kidney:	n/a
26	chr1:226411057-226411107	AG10803	skin:	n/a
27	chr1:226411818-226411868	NT2-D1	testis:	n/a
28	chr1:226411008-226411058	SK-N-SH	brain:	n/a
29	chr1:226411033-226411083	HCPEpiC	choroid plexus:	n/a
30	chr1:226410871-226410921	ECC-1	luminal epithelium:	n/a
31	chr1:226411270-226411320	NB4	blood:	n/a
32	chr1:226411057-226411107	HRE	kidney:	n/a
33	chr1:226411954-226412004	MCF-7	breast:	n/a
34	chr1:226410871-226410921	HL-60	blood:	n/a
35	chr1:226411033-226411083	PFSK-1	brain:	n/a
36	chr1:226411259-226411309	AG04450	lung:	fetal
37	chr1:226411954-226412004	GM12892	blood:	n/a
38	chr1:226411954-226412004	HEK293	kidney:	embryo
39	chr1:226411008-226411058	ECC-1	luminal epithelium:	n/a
40	chr1:226411057-226411107	HRCEpiC	kidney:	n/a
41	chr1:226411008-226411058	K562	blood:	n/a
42	chr1:226411868-226411918	SK-N-MC	brain:	n/a
43	chr1:226411818-226411868	HCF	heart:	n/a
44	chr1:226411954-226412004	Caco-2	colon:	n/a
45	chr1:226411070-226411120	Hepatocyte	liver:	n/a
46	chr1:226411715-226411765	PFSK-1	brain:	n/a
47	chr1:226411868-226411918	HRCEpiC	kidney:	n/a
48	chr1:226411868-226411918	A549	lung:	n/a
49	chr1:226411057-226411107	ovcar-3	ovarian:	n/a
50	chr1:226411270-226411320	NH-A	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226394091..226396385-chr1:226408482..226410465,2	K562	blood:
2	chr1:226401377..226404931-chr1:226406831..226410956,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIXL1-1	chr1:226410040-226410285	XLOC_000592

No data

Variant related genes	Relation type
MIXL1	TF binding region
MIXL1	CpG island
DNMT3A	miRNA target sites

Extended variants
information (count: 72 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188157915	chr1:226410179-226410180	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs535290002	chr1:226410211-226410212	Enhancers Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs553614151	chr1:226410280-226410281	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs542846821	chr1:226410293-226410294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575040466	chr1:226410308-226410309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541993289	chr1:226410352-226410353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141891408	chr1:226410367-226410368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563243849	chr1:226410427-226410428	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs575232407	chr1:226410469-226410470	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs545461884	chr1:226410481-226410482	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs564083755	chr1:226410493-226410494	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs559078580	chr1:226410500-226410501	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs528395328	chr1:226410541-226410542	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs540099305	chr1:226410543-226410544	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs150625733	chr1:226410594-226410595	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529052694	chr1:226410622-226410623	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs548305651	chr1:226410671-226410672	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs114745444	chr1:226410685-226410686	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs181856111	chr1:226410707-226410708	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs552312050	chr1:226410714-226410715	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs570777453	chr1:226410754-226410755	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535346291	chr1:226410755-226410756	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs71168970	chr1:226410756-226410757	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs547303575	chr1:226410845-226410846	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs138700061	chr1:226410869-226410870	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs536035158	chr1:226410937-226410938	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs10753416	chr1:226410949-226410950	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs374484931	chr1:226411033-226411034	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs368878549	chr1:226411073-226411074	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs575257081	chr1:226411084-226411085	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs34459331	chr1:226411097-226411098	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs185707907	chr1:226411129-226411130	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs10915961	chr1:226411135-226411136	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
34	rs572790562	chr1:226411195-226411196	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs10915962	chr1:226411317-226411318	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs561629601	chr1:226411371-226411372	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs561539798	chr1:226411435-226411436	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs573535355	chr1:226411517-226411518	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs544018802	chr1:226411520-226411521	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs562675827	chr1:226411539-226411540	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs530912535	chr1:226411572-226411573	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs552600359	chr1:226411602-226411603	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs564363689	chr1:226411612-226411613	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs541154897	chr1:226411662-226411663	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs367839182	chr1:226411664-226411665	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs371299422	chr1:226411667-226411668	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs202005618	chr1:226411686-226411687	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547343887	chr1:226411699-226411700	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs202018885	chr1:226411754-226411755	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs561029640	chr1:226411789-226411790	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Acute lymphoblastic leukemia	21098271	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	22522925	CNVD

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226375200-226411000	Weak transcription	Right Atrium	heart
2	chr1:226399000-226411200	Weak transcription	Gastric	stomach
3	chr1:226401000-226410800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:226403400-226410800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:226403600-226410800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:226408600-226411000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:226408800-226410600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:226408800-226411600	Weak transcription	K562	blood
9	chr1:226409000-226411000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:226409200-226410200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:226409800-226410600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:226409800-226410600	Enhancers	HepG2	liver
13	chr1:226410200-226410800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:226410400-226410800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr1:226410600-226410800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:226410600-226411000	Flanking Active TSS	HepG2	liver
17	chr1:226410600-226411200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:226410600-226412200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:226410600-226412400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:226410600-226412800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:226410800-226411000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr1:226410800-226411000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:226410800-226411000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:226410800-226411000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:226410800-226411000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr1:226410800-226411000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr1:226410800-226411000	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
28	chr1:226410800-226411000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:226410800-226411000	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr1:226410800-226411000	Enhancers	Right Ventricle	heart
31	chr1:226410800-226411200	Active TSS	Primary hematopoietic stem cells	blood
32	chr1:226410800-226411200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
33	chr1:226410800-226411200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:226410800-226411200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:226410800-226411200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:226410800-226411200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
37	chr1:226410800-226411200	Bivalent Enhancer	Placenta	Placenta
38	chr1:226410800-226411200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr1:226410800-226411200	Enhancers	GM12878-XiMat	blood
40	chr1:226410800-226411400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
41	chr1:226410800-226411600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:226410800-226411600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
43	chr1:226410800-226411800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:226410800-226411800	Enhancers	Fetal Heart	heart
45	chr1:226410800-226412000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:226410800-226412000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr1:226410800-226412000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:226410800-226412200	Active TSS	H9 Cell Line	embryonic stem cell
49	chr1:226410800-226412200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:226410800-226412400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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