Variant report

Variant	nsv1013561
Chromosome Location	chr1:95130666-95155399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:184)
Chromatin interactive
region (count:10)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:95134884-95134905	K562	blood:	n/a	n/a
2	ATF2	chr1:95154094-95154593	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr1:95154249-95154715	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr1:95143325-95143609	K562	blood:	n/a	n/a
5	BHLHE40	chr1:95143320-95143564	K562	blood:	n/a	n/a
6	CEBPB	chr1:95148526-95148547	HepG2	liver:	n/a	n/a
7	CEBPB	chr1:95143729-95144065	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:95152451-95152699	HepG2	liver:	n/a	n/a
9	CEBPB	chr1:95148455-95148686	Hela-S3	cervix:	n/a	chr1:95148548-95148559
10	CEBPB	chr1:95140890-95141377	IMR90	lung:	n/a	chr1:95141176-95141189
11	CEBPB	chr1:95132331-95132574	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr1:95138437-95138965	IMR90	lung:	n/a	n/a
13	CEBPB	chr1:95148401-95148713	IMR90	lung:	n/a	chr1:95148548-95148559
14	CHD2	chr1:95154200-95154634	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr1:95154170-95154639	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr1:95149955-95150077	H1-hESC	embryonic stem cell:	n/a	chr1:95150025-95150033
17	CTCF	chr1:95149920-95150070	HepG2	liver:	n/a	chr1:95150025-95150033
18	CTCF	chr1:95149960-95150110	HCT-116	colon:	n/a	chr1:95150025-95150033
19	CTCF	chr1:95149960-95150110	HEK293	kidney:	n/a	chr1:95150025-95150033
20	CTCF	chr1:95149991-95149994	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:95149973-95150081	MCF-7	breast:	n/a	chr1:95150025-95150033
22	CTCF	chr1:95149940-95150090	MCF-7	breast:	n/a	chr1:95150025-95150033
23	CTCF	chr1:95149983-95150055	MCF-7	breast:	n/a	chr1:95150025-95150033
24	CTCF	chr1:95154620-95154770	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr1:95148280-95148430	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr1:95149995-95150037	MCF-7	breast:	n/a	chr1:95150025-95150033
27	CTCF	chr1:95134240-95134390	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr1:95150040-95150106	Fibrobl	skin:	n/a	n/a
29	E2F4	chr1:95137227-95137374	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F6	chr1:95149871-95150217	H1-hESC	embryonic stem cell:	n/a	n/a
31	EP300	chr1:95134844-95134975	K562	blood:	n/a	n/a
32	EP300	chr1:95154046-95154617	H1-hESC	embryonic stem cell:	n/a	n/a
33	ESR1	chr1:95142127-95142755	ECC-1	luminal epithelium:	n/a	n/a
34	ESR1	chr1:95142164-95142730	ECC-1	luminal epithelium:	n/a	n/a
35	ESR1	chr1:95142321-95142714	ECC-1	luminal epithelium:	n/a	n/a
36	ESR1	chr1:95142263-95142651	ECC-1	luminal epithelium:	n/a	n/a
37	FOS	chr1:95143316-95143639	K562	blood:	n/a	n/a
38	FOXA1	chr1:95131200-95131489	HepG2	liver:	n/a	chr1:95131350-95131365
39	GATA1	chr1:95134491-95135353	PBDE	blood:	n/a	n/a
40	GATA3	chr1:95134665-95135267	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr1:95143908-95144255	MCF-7	breast:	n/a	chr1:95144037-95144046
42	GATA3	chr1:95134647-95135287	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr1:95143898-95144143	T-47D	breast:	n/a	chr1:95144037-95144046
44	GTF2F1	chr1:95154288-95154524	H1-hESC	embryonic stem cell:	n/a	n/a
45	HDAC2	chr1:95132354-95132585	H1-hESC	embryonic stem cell:	n/a	n/a
46	JUND	chr1:95154310-95154479	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr1:95148676-95148985	H1-hESC	embryonic stem cell:	n/a	chr1:95148807-95148815
48	JUND	chr1:95148728-95148893	H1-hESC	embryonic stem cell:	n/a	chr1:95148807-95148815
49	MAFF	chr1:95142674-95143010	HepG2	liver:	n/a	chr1:95142838-95142856
50	MAFF	chr1:95144917-95145234	HepG2	liver:	n/a	chr1:95145086-95145104

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95149580-95149630	SK-N-SH_RA	brain:	n/a
2	chr1:95149580-95149630	SK-N-SH_RA	brain:	n/a
3	chr1:95149580-95149630	NB4	blood:	n/a
4	chr1:95141800-95141850	NB4	blood:	n/a
5	chr1:95149580-95149630	HMEC	breast:	n/a
6	chr1:95149580-95149630	HEEpiC	esophagus:	n/a
7	chr1:95149580-95149630	PANC-1	pancreas:	n/a
8	chr1:95141800-95141850	BE2_C	brain:	n/a
9	chr1:95141800-95141850	LNCaP	prostate:	n/a
10	chr1:95149580-95149630	HAEpiC	amniotic membrane:	n/a
11	chr1:95149580-95149630	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:95133907-95133957	RPTEC	kidney:	n/a
13	chr1:95149580-95149630	AG09319	gingival:	n/a
14	chr1:95149580-95149630	HRE	kidney:	n/a
15	chr1:95149580-95149630	SK-N-SH	brain:	n/a
16	chr1:95133907-95133957	NB4	blood:	n/a
17	chr1:95141800-95141850	AG04450	lung:	fetal
18	chr1:95149580-95149630	SAEC	small airway:	n/a
19	chr1:95149580-95149630	Hepatocyte	liver:	n/a
20	chr1:95141800-95141850	HRE	kidney:	n/a
21	chr1:95133907-95133957	CMK	blood:	n/a
22	chr1:95149580-95149630	K562	blood:	n/a
23	chr1:95141800-95141850	U87	brain:	n/a
24	chr1:95149580-95149630	AoSMC	blood vessel:	n/a
25	chr1:95149580-95149630	Caco-2	colon:	n/a
26	chr1:95141800-95141850	SAEC	small airway:	n/a
27	chr1:95149580-95149630	BE2_C	brain:	n/a
28	chr1:95149580-95149630	MCF10A-Er-Src	breast:	n/a
29	chr1:95133907-95133957	SAEC	small airway:	n/a
30	chr1:95133907-95133957	PrEC	prostate:	n/a
31	chr1:95141800-95141850	GM12892	blood:	n/a
32	chr1:95141800-95141850	HUVEC	blood vessel:	n/a
33	chr1:95141800-95141850	HRCEpiC	kidney:	n/a
34	chr1:95149580-95149630	AG04450	lung:	fetal
35	chr1:95141800-95141850	MCF-7	breast:	n/a
36	chr1:95141800-95141850	HEEpiC	esophagus:	n/a
37	chr1:95141800-95141850	AoSMC	blood vessel:	n/a
38	chr1:95141800-95141850	ProgFib	skin:	n/a
39	chr1:95141800-95141850	SKMC	muscle:	n/a
40	chr1:95133907-95133957	ProgFib	skin:	n/a
41	chr1:95149580-95149630	CMK	blood:	n/a
42	chr1:95133907-95133957	LNCaP	prostate:	n/a
43	chr1:95141800-95141850	Hepatocyte	liver:	n/a
44	chr1:95141800-95141850	AG09309	skin:	n/a
45	chr1:95149580-95149630	GM06990	blood:	n/a
46	chr1:95133907-95133957	PANC-1	pancreas:	n/a
47	chr1:95133907-95133957	H1-hESC	embryonic stem cell:	embryo
48	chr1:95133907-95133957	Caco-2	colon:	n/a
49	chr1:95141800-95141850	ECC-1	luminal epithelium:	n/a
50	chr1:95141800-95141850	HCPEpiC	choroid plexus:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:95143459..95146021-chr1:95146335..95147850,2	K562	blood:
2	chr1:95145448..95146125-chr1:113615023..113615898,2	K562	blood:
3	chr1:95130856..95133124-chr1:95137358..95139966,2	K562	blood:
4	chr1:95147936..95149911-chr1:95157813..95160581,2	K562	blood:
5	chr1:95143459..95146021-chr1:95146335..95147850,2	K562	blood:
6	chr1:95135759..95138517-chr1:95142176..95146453,3	K562	blood:
7	chr1:95134967..95137782-chr1:95144953..95147356,2	K562	blood:
8	chr1:95116283..95118037-chr1:95153158..95155389,2	K562	blood:
9	chr1:95135759..95138517-chr1:95142176..95146453,3	K562	blood:
10	chr1:95134967..95137782-chr1:95144953..95147356,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC44A3-2	chr1:95149016-95149176	XLOC_000303
2	lnc-F3-2	chr1:95138492-95138827	NONHSAT004608
3	lnc-SLC44A3-2	chr1:95153449-95155440	XLOC_000303
4	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
5	lnc-F3-2	chr1:95144981-95145163	NONHSAT004613
6	lnc-CNN3-3	chr1:95138685-95138827	ENSG00000224081.2
7	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
8	lnc-F3-2	chr1:95144981-95145163	NONHSAT004607
9	lnc-SLC44A3-2	chr1:95149856-95150619	XLOC_000303
10	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
11	lnc-SLC44A3-2	chr1:95148857-95149176	XLOC_000303
12	lnc-F3-2	chr1:95144981-95145163	NONHSAT004608
13	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
14	lnc-CNN3-3	chr1:95138453-95138827	ENSG00000224081.2
15	lnc-F3-2	chr1:95145136-95145163	ENSG00000224081.3
16	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
17	lnc-SLC44A3-2	chr1:95153449-95153875	XLOC_000303
18	lnc-F3-2	chr1:95144981-95145163	NONHSAT004609
19	lnc-F3-2	chr1:95138492-95138827	NONHSAT004609
20	lnc-SLC44A3-2	chr1:95143531-95144178	NONHSAT004611
21	lnc-SLC44A3-2	chr1:95144981-95145163	NONHSAT004611
22	lnc-SLC44A3-2	chr1:95143554-95143579	XLOC_000303
23	lnc-SLC44A3-2	chr1:95153449-95153875	XLOC_000303

No data

Variant related genes	Relation type
PGBD4P7	TF binding region
PGBD4P7	CpG island
ENSG00000238198	chromatin interactions
ENSG00000198799	chromatin interactions
ENSG00000244433	chromatin interactions
ENSG00000232857	chromatin interactions
FUBP1	miRNA target sites
SPTLC1	miRNA target sites

Extended variants
information (count: 927 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:927 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142196930	chr1:95130695-95130696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs376810761	chr1:95130698-95130699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs34937715	chr1:95130782-95130783	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530219049	chr1:95130834-95130835	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs550102925	chr1:95130909-95130910	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570012439	chr1:95130925-95130926	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531212559	chr1:95130969-95130970	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551317213	chr1:95131035-95131036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11165196	chr1:95131039-95131040	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533857956	chr1:95131045-95131046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201758187	chr1:95131123-95131124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547303273	chr1:95131167-95131168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12093503	chr1:95131234-95131235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12079366	chr1:95131238-95131239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181223903	chr1:95131304-95131305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567502825	chr1:95131329-95131330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4847332	chr1:95131391-95131392	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556542929	chr1:95131399-95131400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576356735	chr1:95131412-95131413	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558333847	chr1:95131473-95131474	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545080924	chr1:95131542-95131543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571844104	chr1:95131612-95131613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10127958	chr1:95131622-95131623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186498906	chr1:95131646-95131647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs841349	chr1:95131681-95131682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561040191	chr1:95131694-95131695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs188743765	chr1:95131752-95131753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543564976	chr1:95131819-95131820	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs116047929	chr1:95131901-95131902	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532807283	chr1:95131902-95131903	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373509390	chr1:95131923-95131924	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550479541	chr1:95131924-95131925	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10127519	chr1:95131929-95131930	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs180765967	chr1:95131947-95131948	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542629099	chr1:95131957-95131958	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148005278	chr1:95131976-95131977	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4847333	chr1:95132116-95132117	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536451843	chr1:95132120-95132121	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549959532	chr1:95132141-95132142	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569864242	chr1:95132191-95132192	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538894445	chr1:95132247-95132248	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558560296	chr1:95132337-95132338	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141687823	chr1:95132338-95132339	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534707570	chr1:95132340-95132341	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4847211	chr1:95132411-95132412	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4847334	chr1:95132450-95132451	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543625754	chr1:95132485-95132486	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs55966239	chr1:95132518-95132519	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577345151	chr1:95132528-95132529	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185327746	chr1:95132541-95132542	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95124200-95131800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:95125000-95133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:95126800-95133000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:95126800-95137800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:95126800-95141600	Weak transcription	Pancreas	Pancrea
6	chr1:95126800-95164200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:95127600-95133200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:95127600-95133400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:95127600-95134600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:95128400-95131800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:95128400-95134200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:95128400-95134400	Weak transcription	Fetal Intestine Large	intestine
13	chr1:95128400-95154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:95128800-95131800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:95128800-95134200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:95129400-95131000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr1:95130000-95131000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr1:95130400-95133200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:95130400-95133200	Weak transcription	Stomach Mucosa	stomach
20	chr1:95130600-95131400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:95130600-95131800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:95131000-95131400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:95131000-95131800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:95131400-95131800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:95131400-95132000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:95131400-95132800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:95131400-95135200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:95131400-95135400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:95131600-95132000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:95131600-95132600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:95131800-95132000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:95131800-95132000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:95131800-95132000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:95131800-95133200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:95131800-95133400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr1:95131800-95133400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr1:95131800-95133400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:95131800-95135600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:95132000-95132200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:95132000-95132200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:95132000-95133400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:95132200-95132400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:95132200-95132400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:95132400-95133400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:95132400-95135000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:95132600-95134400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:95132800-95133000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:95132800-95133400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:95132800-95134000	Enhancers	Small Intestine	intestine
50	chr1:95133000-95133200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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