Variant report

Variant	nsv596890
Chromosome Location	chr5:1820557-1855301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:259)
CpG islands
(count:2810)
Chromatin interactive
region (count:72)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:259 , 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	BACH1	chr5:1851240-1851581	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr5:1851814-1852239	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr5:1827942-1828198	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr5:1843062-1843396	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:1837595-1837614	K562	blood:	n/a	n/a
6	BHLHE40	chr5:1837450-1837779	HepG2	liver:	n/a	n/a
7	BHLHE40	chr5:1839235-1839324	K562	blood:	n/a	chr5:1839269-1839282 chr5:1839271-1839280 chr5:1839271-1839280
8	BHLHE40	chr5:1841455-1841653	K562	blood:	n/a	chr5:1841550-1841559 chr5:1841550-1841559 chr5:1841544-1841565 chr5:1841551-1841560
9	CCNT2	chr5:1824741-1824821	K562	blood:	n/a	n/a
10	CEBPB	chr5:1839666-1839750	K562	blood:	n/a	n/a
11	CEBPB	chr5:1842251-1842385	A549	lung:	n/a	n/a
12	CEBPD	chr5:1845121-1845760	K562	blood:	n/a	n/a
13	CHD2	chr5:1851378-1851644	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr5:1851049-1852348	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:1824627-1824735	GM12892	blood:	n/a	n/a
16	CTCF	chr5:1824490-1824762	GM12891	blood:	n/a	n/a
17	CTCF	chr5:1824580-1824730	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr5:1824593-1824655	GM12878	blood:	n/a	n/a
19	CTCF	chr5:1824580-1824730	K562	blood:	n/a	n/a
20	CTCF	chr5:1824563-1824696	GM19240	blood:	n/a	n/a
21	CTCF	chr5:1821380-1821530	GM12872	blood:	n/a	n/a
22	CTCF	chr5:1824580-1824730	RPTEC	kidney:	n/a	n/a
23	CTCF	chr5:1824657-1824667	GM13977	blood:	n/a	n/a
24	CTCF	chr5:1824545-1824731	MCF-7	breast:	n/a	n/a
25	CTCF	chr5:1824593-1824738	A549	lung:	n/a	n/a
26	CTCF	chr5:1824599-1824699	Gliobla	brain:	n/a	n/a
27	CTCF	chr5:1824560-1824710	HepG2	liver:	n/a	n/a
28	CTCF	chr5:1824520-1824670	GM12875	blood:	n/a	n/a
29	CTCF	chr5:1824580-1824730	GM12871	blood:	n/a	n/a
30	CTCF	chr5:1824540-1824690	GM12870	blood:	n/a	n/a
31	CTCF	chr5:1824680-1824830	GM12868	blood:	n/a	n/a
32	CTCF	chr5:1824560-1824710	GM12873	blood:	n/a	n/a
33	CTCF	chr5:1824622-1824690	Fibrobl	skin:	n/a	n/a
34	CTCF	chr5:1827610-1827665	GM13976	blood:	n/a	n/a
35	CTCF	chr5:1824560-1824710	HEK293	kidney:	n/a	n/a
36	CTCF	chr5:1824520-1824670	GM12873	blood:	n/a	n/a
37	CTCF	chr5:1824640-1824790	K562	blood:	n/a	n/a
38	CTCF	chr5:1824620-1824770	HCT-116	colon:	n/a	n/a
39	CTCF	chr5:1824660-1824692	GM10266	blood:	n/a	n/a
40	CTCF	chr5:1824578-1824732	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr5:1843120-1843216	MCF-7	breast:	n/a	n/a
42	CTCF	chr5:1824540-1824690	GM12872	blood:	n/a	n/a
43	CTCF	chr5:1824540-1824690	GM06990	blood:	n/a	n/a
44	CTCF	chr5:1824520-1824670	A549	lung:	n/a	n/a
45	CTCF	chr5:1824587-1824710	GM19239	blood:	n/a	n/a
46	CTCF	chr5:1826519-1826568	MCF-7	breast:	n/a	n/a
47	CTCF	chr5:1824534-1824787	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr5:1824520-1824670	GM12864	blood:	n/a	n/a
49	CTCF	chr5:1824500-1824650	GM12870	blood:	n/a	n/a
50	CTCF	chr5:1824580-1824730	GM12865	blood:	n/a	n/a

(count:2810 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:1836719-1836769	AoSMC	blood vessel:	n/a
2	chr5:1852664-1852714	NHBE	bronchial:	n/a
3	chr5:1839631-1839681	HNPCEpiC	eye:	n/a
4	chr5:1851563-1851613	GM06990	blood:	n/a
5	chr5:1836719-1836769	AoSMC	blood vessel:	n/a
6	chr5:1852664-1852714	NHBE	bronchial:	n/a
7	chr5:1839631-1839681	HNPCEpiC	eye:	n/a
8	chr5:1851563-1851613	GM06990	blood:	n/a
9	chr5:1855043-1855093	SK-N-MC	brain:	n/a
10	chr5:1841622-1841672	GM12892	blood:	n/a
11	chr5:1855043-1855093	Jurkat	blood:	n/a
12	chr5:1839346-1839396	IMR90	lung:	fetal
13	chr5:1828311-1828361	AG04449	skin:	fetal
14	chr5:1839286-1839336	NT2-D1	testis:	n/a
15	chr5:1836719-1836769	GM12892	blood:	n/a
16	chr5:1840347-1840397	RPTEC	kidney:	n/a
17	chr5:1852253-1852303	PFSK-1	brain:	n/a
18	chr5:1835623-1835673	HNPCEpiC	eye:	n/a
19	chr5:1851563-1851613	HEEpiC	esophagus:	n/a
20	chr5:1840272-1840322	HCF	heart:	n/a
21	chr5:1826997-1827047	ECC-1	luminal epithelium:	n/a
22	chr5:1855043-1855093	SK-N-SH_RA	brain:	n/a
23	chr5:1828311-1828361	HCM	heart:	n/a
24	chr5:1851563-1851613	HRE	kidney:	n/a
25	chr5:1843077-1843127	Caco-2	colon:	n/a
26	chr5:1840272-1840322	HAEpiC	amniotic membrane:	n/a
27	chr5:1851071-1851121	PANC-1	pancreas:	n/a
28	chr5:1839346-1839396	RPTEC	kidney:	n/a
29	chr5:1834527-1834577	HCT-116	colon:	n/a
30	chr5:1839415-1839465	ECC-1	luminal epithelium:	n/a
31	chr5:1839581-1839631	MCF-7	breast:	n/a
32	chr5:1850655-1850705	IMR90	lung:	fetal
33	chr5:1840347-1840397	HUVEC	blood vessel:	n/a
34	chr5:1850140-1850190	NT2-D1	testis:	n/a
35	chr5:1840181-1840231	NT2-D1	testis:	n/a
36	chr5:1852664-1852714	HEEpiC	esophagus:	n/a
37	chr5:1839631-1839681	AG04449	skin:	fetal
38	chr5:1850261-1850311	ECC-1	luminal epithelium:	n/a
39	chr5:1836719-1836769	Hela-S3	cervix:	n/a
40	chr5:1840229-1840279	GM19239	blood:	n/a
41	chr5:1835210-1835260	SK-N-MC	brain:	n/a
42	chr5:1831308-1831358	AoSMC	blood vessel:	n/a
43	chr5:1840632-1840682	H1-hESC	embryonic stem cell:	embryo
44	chr5:1841594-1841644	HNPCEpiC	eye:	n/a
45	chr5:1840181-1840231	AG09309	skin:	n/a
46	chr5:1841594-1841644	A549	lung:	n/a
47	chr5:1836719-1836769	PFSK-1	brain:	n/a
48	chr5:1841594-1841644	MCF10A-Er-Src	breast:	n/a
49	chr5:1839581-1839631	NHDF-neo	bronchial:	n/a
50	chr5:1839581-1839631	HRE	kidney:	n/a

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:1827997..1830349-chr5:1831198..1833616,2	K562	blood:
2	chr5:1839174..1841241-chr5:1841860..1844355,2	MCF-7	breast:
3	chr5:1835886..1837626-chr5:1848451..1851113,2	K562	blood:
4	chr5:1830811..1833725-chr5:1879674..1882912,3	MCF-7	breast:
5	chr5:1814461..1816981-chr5:1818018..1821210,3	MCF-7	breast:
6	chr5:1831220..1833843-chr5:1846162..1848165,2	MCF-7	breast:
7	chr5:1800176..1801704-chr5:1827305..1828805,2	MCF-7	breast:
8	chr5:1831927..1834401-chr5:1847567..1850200,2	MCF-7	breast:
9	chr5:1799884..1801831-chr5:1830027..1832433,4	MCF-7	breast:
10	chr5:1825659..1827441-chr5:1889600..1892524,2	MCF-7	breast:
11	chr5:1820025..1823818-chr5:1823864..1826357,3	K562	blood:
12	chr5:1830290..1836159-chr5:1836315..1840959,6	MCF-7	breast:
13	chr5:1798514..1801939-chr5:1819696..1823981,5	MCF-7	breast:
14	chr5:1824774..1826571-chr5:1836421..1838392,2	K562	blood:
15	chr5:1851660..1854180-chr5:1947393..1949890,2	MCF-7	breast:
16	chr5:1836463..1838135-chr5:1838419..1840189,2	MCF-7	breast:
17	chr5:1830984..1834061-chr5:1881188..1884936,4	MCF-7	breast:
18	chr5:1837498..1841930-chr5:1863565..1866352,4	MCF-7	breast:
19	chr5:1823993..1826824-chr5:1830176..1831799,2	K562	blood:
20	chr5:1820025..1823818-chr5:1823864..1826357,3	K562	blood:
21	chr5:1831220..1833843-chr5:1846162..1848165,2	MCF-7	breast:
22	chr5:1836646..1838690-chr5:1842727..1844259,2	MCF-7	breast:
23	chr5:1838271..1841357-chr5:1880849..1883964,3	MCF-7	breast:
24	chr5:1823993..1826824-chr5:1830176..1831799,2	K562	blood:
25	chr5:1832864..1834515-chr5:1836517..1838024,2	MCF-7	breast:
26	chr5:1830147..1834486-chr5:1837031..1839898,4	K562	blood:
27	chr5:1801086..1802656-chr5:1824054..1826100,2	MCF-7	breast:
28	chr5:1803153..1805432-chr5:1831999..1834113,2	MCF-7	breast:
29	chr5:1830147..1834486-chr5:1837031..1839898,4	K562	blood:
30	chr5:1818595..1823818-chr5:1824144..1826436,4	K562	blood:
31	chr5:1823993..1826108-chr5:1830299..1832827,2	K562	blood:
32	chr5:1800280..1802259-chr5:1836913..1840600,4	MCF-7	breast:
33	chr5:1849470..1851802-chr5:1854635..1856428,2	MCF-7	breast:
34	chr5:1824315..1827809-chr5:1864869..1867236,3	MCF-7	breast:
35	chr5:1815435..1817756-chr5:1831860..1834084,2	MCF-7	breast:
36	chr5:1836646..1838690-chr5:1842727..1844259,2	MCF-7	breast:
37	chr5:1824982..1826633-chr5:1882223..1884332,2	MCF-7	breast:
38	chr5:1801625..1804390-chr5:1831978..1833592,2	K562	blood:
39	chr5:1838108..1839824-chr5:1882679..1884833,2	MCF-7	breast:
40	chr5:1816206..1818077-chr5:1836982..1838844,2	K562	blood:
41	chr5:1836463..1838135-chr5:1838419..1840189,2	MCF-7	breast:
42	chr5:1813864..1817727-chr5:1823867..1827166,3	MCF-7	breast:
43	chr5:1810746..1813176-chr5:1830895..1832841,2	MCF-7	breast:
44	chr5:1823728..1826019-chr5:1881609..1883896,2	MCF-7	breast:
45	chr5:1823492..1825147-chr5:1825325..1826849,2	MCF-7	breast:
46	chr5:1831073..1835336-chr5:1866302..1869597,4	MCF-7	breast:
47	chr5:1819853..1822198-chr5:1823585..1825204,2	MCF-7	breast:
48	chr5:1798421..1802098-chr5:1826976..1829813,3	K562	blood:
49	chr5:1827997..1830349-chr5:1831198..1833616,2	K562	blood:
50	chr5:1797383..1801692-chr5:1833304..1835855,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249966	TF binding region
ENSG00000249966	CpG island
ENSG00000171421	chromatin interactions
ENSG00000249966	chromatin interactions
ENSG00000113430	chromatin interactions
ENSG00000249116	chromatin interactions
ENSG00000188002	chromatin interactions
ENSG00000145494	chromatin interactions

Extended variants
information (count: 1713 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1713 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6864000	chr5:1820557-1820558	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571326719	chr5:1820582-1820583	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs6864281	chr5:1820665-1820666	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs150391832	chr5:1820674-1820675	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11748857	chr5:1820720-1820721	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs187124456	chr5:1820722-1820723	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372921263	chr5:1820739-1820740	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs377497575	chr5:1820746-1820747	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370993762	chr5:1820762-1820763	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576778343	chr5:1820776-1820777	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs537651815	chr5:1820870-1820871	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558839236	chr5:1820871-1820872	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577315306	chr5:1820904-1820905	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs543648575	chr5:1820939-1820940	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568849580	chr5:1820967-1820968	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541158413	chr5:1820970-1820971	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559730931	chr5:1821022-1821023	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574470255	chr5:1821042-1821043	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138179349	chr5:1821056-1821057	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs541791787	chr5:1821085-1821086	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs191597368	chr5:1821131-1821132	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11948846	chr5:1821144-1821145	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs549949075	chr5:1821182-1821183	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs183694831	chr5:1821247-1821248	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs34491608	chr5:1821330-1821331	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs532272242	chr5:1821345-1821346	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs547157770	chr5:1821359-1821360	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11133912	chr5:1821366-1821367	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536270665	chr5:1821370-1821371	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548169070	chr5:1821450-1821451	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570368456	chr5:1821509-1821510	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs537341518	chr5:1821540-1821541	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs188020643	chr5:1821585-1821586	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs577351035	chr5:1821682-1821683	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371399655	chr5:1821697-1821698	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535147248	chr5:1821712-1821713	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs201836077	chr5:1821739-1821740	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs375471670	chr5:1821740-1821741	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553211770	chr5:1821746-1821747	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566415481	chr5:1821814-1821815	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs541828670	chr5:1821827-1821828	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs192399984	chr5:1821842-1821843	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs372858018	chr5:1821843-1821844	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs563295022	chr5:1821882-1821883	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533887850	chr5:1821892-1821893	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs367815786	chr5:1821900-1821901	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs543339847	chr5:1821942-1821943	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs185304724	chr5:1821961-1821962	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs532230704	chr5:1821989-1821990	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547535968	chr5:1822009-1822010	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1802200-1827800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:1802800-1821800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:1802800-1821800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:1802800-1822000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr5:1802800-1822800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:1802800-1823000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:1802800-1823600	Strong transcription	Primary B cells from cord blood	blood
8	chr5:1802800-1825000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:1802800-1825800	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:1802800-1826400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:1802800-1828400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:1803000-1822400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:1803000-1822400	Strong transcription	A549	lung
14	chr5:1803000-1822600	Strong transcription	Placenta	Placenta
15	chr5:1803000-1822800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:1803000-1822800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:1803000-1822800	Strong transcription	Osteobl	bone
18	chr5:1803000-1823800	Strong transcription	Fetal Thymus	thymus
19	chr5:1803000-1825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:1803000-1825000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr5:1803000-1825600	Strong transcription	Liver	Liver
22	chr5:1803000-1826000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:1803000-1826200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:1803000-1826200	Strong transcription	Adipose Nuclei	Adipose
25	chr5:1803000-1826600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr5:1803000-1826800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:1803000-1827200	Strong transcription	Fetal Brain Female	brain
28	chr5:1803000-1828000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr5:1803200-1821800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:1803200-1822600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:1803200-1823000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr5:1803200-1825600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr5:1803200-1825800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr5:1803200-1826800	Strong transcription	Primary T cells from cord blood	blood
35	chr5:1803400-1821600	Strong transcription	Fetal Stomach	stomach
36	chr5:1803400-1822800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:1803400-1823600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:1803600-1823600	Strong transcription	Hela-S3	cervix
39	chr5:1803600-1826800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:1803800-1822200	Strong transcription	HepG2	liver
41	chr5:1804000-1825000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:1804200-1822200	Strong transcription	Brain Germinal Matrix	brain
43	chr5:1804200-1823000	Strong transcription	K562	blood
44	chr5:1804200-1824600	Weak transcription	Fetal Brain Male	brain
45	chr5:1804400-1821600	Strong transcription	GM12878-XiMat	blood
46	chr5:1804600-1821600	Strong transcription	Spleen	Spleen
47	chr5:1808600-1821800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:1808600-1825800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:1808800-1825000	Strong transcription	Brain Anterior Caudate	brain
50	chr5:1808800-1826200	Strong transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

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