Variant report

Variant	nsv881650
Chromosome Location	chr5:1892995-1944487
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:273)
CpG islands
(count:1956)
Chromatin interactive
region (count:43)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:273 , 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	ATF1	chr5:1933301-1933328	K562	blood:	n/a	n/a
2	BACH1	chr5:1919475-1919729	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr5:1931242-1932154	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr5:1896081-1896149	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr5:1908761-1908983	GM12878	blood:	n/a	n/a
6	BHLHE40	chr5:1934036-1934438	K562	blood:	n/a	n/a
7	BHLHE40	chr5:1909580-1909843	K562	blood:	n/a	n/a
8	BHLHE40	chr5:1927394-1927444	A549	lung:	n/a	n/a
9	CBX3	chr5:1934067-1934448	K562	blood:	n/a	n/a
10	CEBPB	chr5:1930222-1930375	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr5:1897933-1898143	HepG2	liver:	n/a	chr5:1898010-1898021 chr5:1898012-1898023 chr5:1898010-1898023
12	CEBPB	chr5:1928552-1928667	HepG2	liver:	n/a	chr5:1928599-1928610 chr5:1928598-1928611
13	CEBPB	chr5:1920834-1921014	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr5:1897896-1898132	K562	blood:	n/a	chr5:1898010-1898021 chr5:1898012-1898023 chr5:1898010-1898023
15	CHD1	chr5:1931546-1931606	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr5:1931533-1931640	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr5:1931111-1932029	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr5:1942544-1942617	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr5:1896628-1896846	GM12878	blood:	n/a	chr5:1896759-1896780 chr5:1896764-1896782 chr5:1896771-1896779
20	CTCF	chr5:1903720-1903870	GM12873	blood:	n/a	n/a
21	CTCF	chr5:1942580-1942730	A549	lung:	n/a	n/a
22	CTCF	chr5:1934349-1934497	K562	blood:	n/a	n/a
23	CTCF	chr5:1896740-1896890	WERI-Rb-1	eye:	n/a	chr5:1896759-1896780 chr5:1896764-1896782 chr5:1896771-1896779
24	CTCF	chr5:1903588-1903770	MCF-7	breast:	n/a	n/a
25	CTCF	chr5:1896766-1896819	GM19240	blood:	n/a	chr5:1896771-1896779
26	CTCF	chr5:1942520-1942670	MCF-7	breast:	n/a	n/a
27	CTCF	chr5:1934380-1934530	K562	blood:	n/a	n/a
28	CTCF	chr5:1929185-1930322	GM19239	blood:	n/a	n/a
29	CTCF	chr5:1942493-1942654	K562	blood:	n/a	n/a
30	CTCF	chr5:1909560-1909710	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr5:1931160-1931310	NHEK	skin:	n/a	n/a
32	CTCF	chr5:1929776-1929814	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr5:1943984-1944142	NHEK	skin:	n/a	n/a
34	CTCF	chr5:1942510-1942596	GM19239	blood:	n/a	n/a
35	CTCF	chr5:1942420-1942570	HRE	kidney:	n/a	n/a
36	CTCF	chr5:1929633-1929712	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr5:1930421-1930566	GM19239	blood:	n/a	n/a
38	CTCF	chr5:1934320-1934470	HepG2	liver:	n/a	n/a
39	CTCF	chr5:1929718-1929720	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr5:1930169-1930265	NHEK	skin:	n/a	n/a
41	CTCF	chr5:1929301-1929371	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr5:1942480-1942630	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr5:1934280-1934430	HCT-116	colon:	n/a	n/a
44	CTCF	chr5:1942521-1942601	HepG2	liver:	n/a	n/a
45	CTCF	chr5:1934256-1934519	K562	blood:	n/a	n/a
46	CTCF	chr5:1903629-1903736	GM19238	blood:	n/a	n/a
47	CTCF	chr5:1942440-1942590	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr5:1942480-1942630	K562	blood:	n/a	n/a
49	CTCF	chr5:1903489-1903843	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:1934324-1934533	K562	blood:	n/a	n/a

(count:1956 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:1931058-1931108	BE2_C	brain:	n/a
2	chr5:1910693-1910743	HCT-116	colon:	n/a
3	chr5:1923003-1923053	HEK293	kidney:	embryo
4	chr5:1910241-1910291	MCF10A-Er-Src	breast:	n/a
5	chr5:1931058-1931108	BE2_C	brain:	n/a
6	chr5:1910693-1910743	HCT-116	colon:	n/a
7	chr5:1923003-1923053	HEK293	kidney:	embryo
8	chr5:1910241-1910291	MCF10A-Er-Src	breast:	n/a
9	chr5:1912101-1912151	AG09319	gingival:	n/a
10	chr5:1923653-1923703	MCF10A-Er-Src	breast:	n/a
11	chr5:1931620-1931670	HEK293	kidney:	embryo
12	chr5:1938619-1938669	BJ	skin:	n/a
13	chr5:1931620-1931670	T-47D	breast:	n/a
14	chr5:1931058-1931108	MCF-7	breast:	n/a
15	chr5:1913923-1913973	H1-hESC	embryonic stem cell:	embryo
16	chr5:1938296-1938346	RPTEC	kidney:	n/a
17	chr5:1913983-1914033	SK-N-MC	brain:	n/a
18	chr5:1931781-1931831	IMR90	lung:	fetal
19	chr5:1924173-1924223	NHBE	bronchial:	n/a
20	chr5:1921738-1921788	IMR90	lung:	fetal
21	chr5:1938549-1938599	PrEC	prostate:	n/a
22	chr5:1931620-1931670	SKMC	muscle:	n/a
23	chr5:1921738-1921788	SKMC	muscle:	n/a
24	chr5:1934165-1934215	NT2-D1	testis:	n/a
25	chr5:1938549-1938599	Hela-S3	cervix:	n/a
26	chr5:1923003-1923053	BE2_C	brain:	n/a
27	chr5:1931544-1931594	Jurkat	blood:	n/a
28	chr5:1910518-1910568	SAEC	small airway:	n/a
29	chr5:1922911-1922961	HCT-116	colon:	n/a
30	chr5:1931781-1931831	HL-60	blood:	n/a
31	chr5:1924099-1924149	CMK	blood:	n/a
32	chr5:1938296-1938346	HEEpiC	esophagus:	n/a
33	chr5:1923003-1923053	GM19239	blood:	n/a
34	chr5:1927225-1927275	GM12892	blood:	n/a
35	chr5:1910241-1910291	PrEC	prostate:	n/a
36	chr5:1931376-1931426	HCM	heart:	n/a
37	chr5:1931620-1931670	HRPEpiC	eye:	n/a
38	chr5:1921941-1921991	NH-A	brain:	n/a
39	chr5:1923003-1923053	SKMC	muscle:	n/a
40	chr5:1910241-1910291	Jurkat	blood:	n/a
41	chr5:1925014-1925064	GM12878	blood:	n/a
42	chr5:1938296-1938346	ProgFib	skin:	n/a
43	chr5:1923122-1923172	NH-A	brain:	n/a
44	chr5:1931251-1931301	NHDF-neo	bronchial:	n/a
45	chr5:1924173-1924223	MCF10A-Er-Src	breast:	n/a
46	chr5:1912101-1912151	HCM	heart:	n/a
47	chr5:1925014-1925064	HRE	kidney:	n/a
48	chr5:1931058-1931108	GM19239	blood:	n/a
49	chr5:1912101-1912151	Caco-2	colon:	n/a
50	chr5:1931251-1931301	Caco-2	colon:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1914837..1916818-chr5:1921898..1924195,2	K562	blood:
2	chr5:1882666..1885618-chr5:1916398..1918605,2	MCF-7	breast:
3	chr5:1879733..1883410-chr5:1895321..1898945,3	MCF-7	breast:
4	chr5:1799936..1801867-chr5:1896753..1899712,3	MCF-7	breast:
5	chr5:1891939..1894177-chr5:1904493..1906172,2	MCF-7	breast:
6	chr5:1881423..1883600-chr5:1931817..1933419,2	MCF-7	breast:
7	chr5:1870945..1873659-chr5:1908651..1910521,2	K562	blood:
8	chr5:1922868..1925557-chr5:1925659..1927215,2	MCF-7	breast:
9	chr5:1923560..1925350-chr5:1937042..1939475,2	MCF-7	breast:
10	chr5:1798468..1802495-chr5:1900039..1904193,4	MCF-7	breast:
11	chr5:1920038..1922611-chr5:1924901..1927373,2	MCF-7	breast:
12	chr5:1936412..1938258-chr5:1944303..1946784,2	MCF-7	breast:
13	chr5:1882808..1884325-chr5:1918728..1920579,2	MCF-7	breast:
14	chr5:1889108..1891835-chr5:1894467..1896393,2	MCF-7	breast:
15	chr5:1899876..1901654-chr5:1903074..1905177,2	K562	blood:
16	chr5:1891939..1894177-chr5:1904493..1906172,2	MCF-7	breast:
17	chr5:1883304..1885074-chr5:1910121..1911989,2	MCF-7	breast:
18	chr5:1886018..1889904-chr5:1894024..1897247,4	MCF-7	breast:
19	chr5:1918788..1920999-chr5:1921103..1923606,2	K562	blood:
20	chr5:1905142..1908206-chr5:1909246..1911711,3	K562	blood:
21	chr5:1918788..1920999-chr5:1921103..1923606,2	K562	blood:
22	chr5:1905142..1908206-chr5:1909246..1911711,3	K562	blood:
23	chr5:1882461..1885296-chr5:1903613..1907009,4	MCF-7	breast:
24	chr5:1936412..1938258-chr5:1944303..1946784,2	MCF-7	breast:
25	chr5:1928752..1930799-chr5:1946292..1948777,2	MCF-7	breast:
26	chr5:1887761..1891597-chr5:1896215..1899107,3	K562	blood:
27	chr5:1912139..1914319-chr5:1915398..1917743,2	MCF-7	breast:
28	chr5:1922868..1925557-chr5:1925659..1927215,2	MCF-7	breast:
29	chr5:1888569..1892421-chr5:1897017..1899558,5	MCF-7	breast:
30	chr5:1914837..1916818-chr5:1921898..1924195,2	K562	blood:
31	chr5:1881475..1885354-chr5:1933918..1938503,4	MCF-7	breast:
32	chr5:1920038..1922611-chr5:1924901..1927373,2	MCF-7	breast:
33	chr5:1923560..1925350-chr5:1937042..1939475,2	MCF-7	breast:
34	chr5:1923598..1926065-chr5:2006441..2007973,2	K562	blood:
35	chr5:1899876..1901654-chr5:1903074..1905177,2	K562	blood:
36	chr5:1917131..1918758-chr5:1920730..1922563,2	K562	blood:
37	chr5:1814005..1815834-chr5:1902994..1904612,2	MCF-7	breast:
38	chr5:1891065..1892850-chr5:1899069..1900873,2	MCF-7	breast:
39	chr5:1885542..1887334-chr5:1913539..1916179,2	MCF-7	breast:
40	chr5:1887761..1890459-chr5:1897295..1899107,2	K562	blood:
41	chr5:1917131..1918758-chr5:1920730..1922563,2	K562	blood:
42	chr5:1886995..1888582-chr5:1914999..1916650,2	MCF-7	breast:
43	chr5:1912139..1914319-chr5:1915398..1917743,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFS6-4	chr5:1899156-1900604	NR_109912
2	lnc-NDUFS6-12	chr5:1917847-1917909	l_2847_chr5:1917846-1920996_testes
3	lnc-NDUFS6-5	chr5:1931131-1931503	XLOC_004250
4	lnc-IRX4-2	chr5:1929182-1929710	NONHSAT100080
5	lnc-NDUFS6-12	chr5:1920676-1920996	l_2847_chr5:1917846-1920996_testes
6	lnc-NDUFS6-4	chr5:1899156-1900607	XLOC_004249
7	lnc-IRX4-2	chr5:1930518-1930577	XLOC_004707
8	lnc-NDUFS6-5	chr5:1933923-1934099	XLOC_004250
9	lnc-NDUFS6-5	chr5:1933977-1934099	XLOC_004250
10	lnc-IRX4-2	chr5:1929007-1930243	XLOC_004707
11	lnc-NDUFS6-4	chr5:1898159-1898233	NR_109912
12	lnc-NDUFS6-5	chr5:1933923-1934099	XLOC_004250
13	lnc-IRX4-2	chr5:1929770-1930148	NONHSAT100080
14	lnc-NDUFS6-5	chr5:1939884-1939896	XLOC_004250
15	lnc-NDUFS6-4	chr5:1898159-1898233	XLOC_004249
16	lnc-NDUFS6-5	chr5:1931298-1931503	XLOC_004250
17	lnc-NDUFS6-13	chr5:1937594-1937754	l_2848_chr5:1936214-1937754_heart
18	lnc-NDUFS6-5	chr5:1931105-1931503	XLOC_004250
19	lnc-NDUFS6-5	chr5:1939886-1940055	XLOC_004250
20	lnc-NDUFS6-5	chr5:1933923-1934099	XLOC_004250
21	lnc-NDUFS6-5	chr5:1931371-1931503	XLOC_004250
22	lnc-NDUFS6-13	chr5:1936215-1936660	l_2848_chr5:1936214-1937754_heart
23	lnc-NDUFS6-5	chr5:1933923-1934099	XLOC_004250

No data

Variant related genes	Relation type
ENSG00000248994	TF binding region
ENSG00000248994	CpG island
ENSG00000249116	chromatin interactions
ENSG00000113430	chromatin interactions
ENSG00000249326	chromatin interactions
ENSG00000171421	chromatin interactions
ENSG00000145494	chromatin interactions
UTRN	miRNA target sites
PFAS	miRNA target sites
LEPRE1	miRNA target sites
UTP15	miRNA target sites
RARA	miRNA target sites

Extended variants
information (count: 2450 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:2450 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6863642	chr5:1892995-1892996	Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548955296	chr5:1893009-1893010	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs182953981	chr5:1893021-1893022	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs145060190	chr5:1893022-1893023	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548537261	chr5:1893027-1893028	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs377376928	chr5:1893041-1893042	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148693851	chr5:1893071-1893072	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371358955	chr5:1893076-1893077	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566289901	chr5:1893102-1893103	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536927666	chr5:1893137-1893138	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs142248451	chr5:1893147-1893148	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs115345715	chr5:1893149-1893150	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs187214035	chr5:1893151-1893152	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs190138728	chr5:1893164-1893165	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563530096	chr5:1893206-1893207	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs541105724	chr5:1893207-1893208	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147889400	chr5:1893216-1893217	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs572279291	chr5:1893241-1893242	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141638098	chr5:1893280-1893281	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs183215576	chr5:1893310-1893311	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs560815493	chr5:1893324-1893325	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114172095	chr5:1893369-1893370	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs111875915	chr5:1893384-1893385	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs188178711	chr5:1893393-1893394	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532227374	chr5:1893442-1893443	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs571331678	chr5:1893443-1893444	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs112078181	chr5:1893524-1893525	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs567049780	chr5:1893546-1893547	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs535836399	chr5:1893638-1893639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548921051	chr5:1893647-1893648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368618964	chr5:1893674-1893675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533687968	chr5:1893720-1893721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545807930	chr5:1893721-1893722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147071480	chr5:1893722-1893723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192461745	chr5:1893726-1893727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13160679	chr5:1893727-1893728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574792283	chr5:1893749-1893750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141024881	chr5:1893750-1893751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528169077	chr5:1893767-1893768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560853756	chr5:1893789-1893790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182679551	chr5:1893822-1893823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546413697	chr5:1893843-1893844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564713352	chr5:1893892-1893893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150231160	chr5:1893916-1893917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532139508	chr5:1893921-1893922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547483379	chr5:1893928-1893929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12186763	chr5:1893960-1893961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529694512	chr5:1893982-1893983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548166933	chr5:1893983-1893984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570402339	chr5:1894008-1894009	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Schizophrenia	23813976	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1884200-1898200	Weak transcription	Gastric	stomach
2	chr5:1891800-1895600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:1892800-1893600	Bivalent/Poised TSS	Hela-S3	cervix
4	chr5:1894000-1894200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:1894200-1894400	Bivalent Enhancer	Hela-S3	cervix
6	chr5:1895400-1896200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:1895600-1895800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:1895600-1895800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:1895600-1896200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:1895600-1897000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr5:1895800-1896000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:1895800-1896200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:1895800-1896800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:1896000-1896400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr5:1896800-1897600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:1897000-1899000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:1897600-1897800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:1897600-1898000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:1897800-1898200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:1898200-1898400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:1898400-1899200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:1899000-1899400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:1899200-1899400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:1899400-1899600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr5:1900600-1900800	Enhancers	NHDF-Ad	bronchial
26	chr5:1900600-1902200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:1900800-1901600	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr5:1909000-1909200	ZNF genes & repeats	Right Atrium	heart
29	chr5:1909200-1912000	Weak transcription	Right Atrium	heart
30	chr5:1911000-1911200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:1911200-1913400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:1912000-1912200	Enhancers	Gastric	stomach
33	chr5:1912200-1913000	Weak transcription	Gastric	stomach
34	chr5:1913000-1913600	ZNF genes & repeats	Gastric	stomach
35	chr5:1913400-1913600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:1914800-1915800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:1915200-1917200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:1917200-1923800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:1917800-1918200	Enhancers	HMEC	breast
40	chr5:1918000-1918200	Enhancers	Pancreas	Pancrea
41	chr5:1918000-1919000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr5:1918200-1918400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:1918200-1919800	Weak transcription	HMEC	breast
44	chr5:1918800-1919000	Enhancers	Pancreas	Pancrea
45	chr5:1919400-1920000	Bivalent Enhancer	K562	blood
46	chr5:1919800-1920400	Enhancers	HMEC	breast
47	chr5:1922000-1922200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
48	chr5:1923600-1924400	Bivalent/Poised TSS	Hela-S3	cervix
49	chr5:1923800-1924000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:1923800-1924400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links