Variant report

Variant	nsv898597
Chromosome Location	chr12:1928289-1962759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:424)
CpG islands
(count:1649)
Chromatin interactive
region (count:56)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:1947034-1947306	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:1934949-1935226	HepG2	liver:	n/a	n/a
3	ATF1	chr12:1950924-1951113	K562	blood:	n/a	n/a
4	BACH1	chr12:1929552-1929694	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr12:1940359-1940550	K562	blood:	n/a	n/a
6	BHLHE40	chr12:1940330-1940571	HepG2	liver:	n/a	n/a
7	BHLHE40	chr12:1934648-1935258	HepG2	liver:	n/a	chr12:1934844-1934853 chr12:1934844-1934853 chr12:1934838-1934859
8	BHLHE40	chr12:1934805-1934932	K562	blood:	n/a	chr12:1934844-1934853 chr12:1934844-1934853 chr12:1934838-1934859
9	BHLHE40	chr12:1931087-1931195	GM12878	blood:	n/a	n/a
10	BHLHE40	chr12:1931012-1931206	K562	blood:	n/a	n/a
11	CEBPB	chr12:1948985-1949607	MCF-7	breast:	n/a	n/a
12	CEBPB	chr12:1940264-1940533	K562	blood:	n/a	n/a
13	CEBPB	chr12:1944453-1944613	H1-hESC	embryonic stem cell:	n/a	chr12:1944546-1944557
14	CEBPB	chr12:1940191-1940633	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr12:1940057-1940681	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr12:1960290-1960578	IMR90	lung:	n/a	n/a
17	CEBPB	chr12:1949067-1949617	MCF-7	breast:	n/a	n/a
18	CEBPB	chr12:1940327-1940486	HepG2	liver:	n/a	n/a
19	CEBPB	chr12:1940232-1940588	HepG2	liver:	n/a	n/a
20	CEBPB	chr12:1940382-1940469	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr12:1934777-1935141	HepG2	liver:	n/a	n/a
22	CEBPB	chr12:1940234-1940593	HepG2	liver:	n/a	n/a
23	CEBPB	chr12:1940230-1940589	IMR90	lung:	n/a	n/a
24	CEBPB	chr12:1940068-1940655	MCF-7	breast:	n/a	n/a
25	CEBPB	chr12:1940161-1940619	MCF-7	breast:	n/a	n/a
26	CEBPB	chr12:1947056-1947318	HepG2	liver:	n/a	n/a
27	CEBPB	chr12:1944447-1944650	K562	blood:	n/a	chr12:1944546-1944557
28	CEBPB	chr12:1940232-1940619	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr12:1944440-1944697	HepG2	liver:	n/a	chr12:1944546-1944557
30	CHD2	chr12:1929523-1929547	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr12:1940237-1940604	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr12:1940220-1940542	ECC-1	luminal epithelium:	n/a	n/a
33	CTCF	chr12:1945335-1945429	GM12892	blood:	n/a	n/a
34	CTCF	chr12:1929440-1929590	SK-N-SH_RA	brain:	n/a	chr12:1929476-1929489
35	CTCF	chr12:1945301-1945414	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:1946360-1946510	HCPEpiC	choroid plexus:	n/a	chr12:1946470-1946488
37	CTCF	chr12:1946340-1946490	RPTEC	kidney:	n/a	chr12:1946470-1946488
38	CTCF	chr12:1946340-1946490	NHEK	skin:	n/a	chr12:1946470-1946488
39	CTCF	chr12:1946360-1946510	HepG2	liver:	n/a	chr12:1946470-1946488
40	CTCF	chr12:1945260-1945410	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr12:1940340-1940490	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr12:1945274-1945454	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:1945238-1945405	HepG2	liver:	n/a	n/a
44	CTCF	chr12:1945300-1945450	MCF-7	breast:	n/a	n/a
45	CTCF	chr12:1945260-1945410	Caco-2	colon:	n/a	n/a
46	CTCF	chr12:1945329-1945409	GM12891	blood:	n/a	n/a
47	CTCF	chr12:1942380-1942530	HPF	lung:	n/a	chr12:1942405-1942423
48	CTCF	chr12:1945320-1945420	HepG2	liver:	n/a	n/a
49	CTCF	chr12:1945380-1945530	GM12873	blood:	n/a	n/a
50	CTCF	chr12:1929620-1929770	SK-N-SH_RA	brain:	n/a	n/a

(count:1649 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1938156-1938206	HMEC	breast:	n/a
2	chr12:1948435-1948485	MCF10A-Er-Src	breast:	n/a
3	chr12:1938156-1938206	HMEC	breast:	n/a
4	chr12:1948435-1948485	MCF10A-Er-Src	breast:	n/a
5	chr12:1928689-1928739	SK-N-SH_RA	brain:	n/a
6	chr12:1949586-1949636	HIPEpiC	eye:	n/a
7	chr12:1940547-1940597	NT2-D1	testis:	n/a
8	chr12:1938156-1938206	NHBE	bronchial:	n/a
9	chr12:1949586-1949636	HEK293	kidney:	embryo
10	chr12:1947412-1947462	SAEC	small airway:	n/a
11	chr12:1937877-1937927	ovcar-3	ovarian:	n/a
12	chr12:1949586-1949636	SKMC	muscle:	n/a
13	chr12:1948648-1948698	H1-hESC	embryonic stem cell:	embryo
14	chr12:1928689-1928739	SK-N-MC	brain:	n/a
15	chr12:1929588-1929638	T-47D	breast:	n/a
16	chr12:1929588-1929638	Caco-2	colon:	n/a
17	chr12:1929588-1929638	ECC-1	luminal epithelium:	n/a
18	chr12:1938156-1938206	NT2-D1	testis:	n/a
19	chr12:1937968-1938018	SAEC	small airway:	n/a
20	chr12:1943722-1943772	HepG2	liver:	n/a
21	chr12:1940452-1940502	LNCaP	prostate:	n/a
22	chr12:1940380-1940430	HCM	heart:	n/a
23	chr12:1949586-1949636	BE2_C	brain:	n/a
24	chr12:1929348-1929398	PFSK-1	brain:	n/a
25	chr12:1947412-1947462	SK-N-SH	brain:	n/a
26	chr12:1937877-1937927	GM19239	blood:	n/a
27	chr12:1928689-1928739	HCF	heart:	n/a
28	chr12:1937877-1937927	AG04449	skin:	fetal
29	chr12:1943889-1943939	LNCaP	prostate:	n/a
30	chr12:1948648-1948698	HepG2	liver:	n/a
31	chr12:1940618-1940668	HMEC	breast:	n/a
32	chr12:1938156-1938206	HPAEpiC	pulmonary alveolar:	n/a
33	chr12:1928481-1928531	H1-hESC	embryonic stem cell:	embryo
34	chr12:1929265-1929315	GM06990	blood:	n/a
35	chr12:1949586-1949636	HAEpiC	amniotic membrane:	n/a
36	chr12:1928689-1928739	AG09309	skin:	n/a
37	chr12:1938156-1938206	AG09319	gingival:	n/a
38	chr12:1943722-1943772	HCF	heart:	n/a
39	chr12:1948435-1948485	HRE	kidney:	n/a
40	chr12:1940452-1940502	NHDF-neo	bronchial:	n/a
41	chr12:1937968-1938018	HNPCEpiC	eye:	n/a
42	chr12:1930326-1930376	HAEpiC	amniotic membrane:	n/a
43	chr12:1949586-1949636	A549	lung:	n/a
44	chr12:1940618-1940668	BJ	skin:	n/a
45	chr12:1940547-1940597	HMEC	breast:	n/a
46	chr12:1929265-1929315	SK-N-SH_RA	brain:	n/a
47	chr12:1943889-1943939	NT2-D1	testis:	n/a
48	chr12:1947479-1947529	HCM	heart:	n/a
49	chr12:1952798-1952848	SKMC	muscle:	n/a
50	chr12:1928689-1928739	NH-A	brain:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:1737994..1740960-chr12:1947307..1949303,2	MCF-7	breast:
2	chr12:1953795..1956547-chr12:1969421..1971021,2	MCF-7	breast:
3	chr12:1905343..1907993-chr12:1944504..1948626,5	MCF-7	breast:
4	chr12:1910081..1912246-chr12:1949040..1950547,2	K562	blood:
5	chr12:1901985..1907754-chr12:1946580..1951659,8	MCF-7	breast:
6	chr12:1920587..1924096-chr12:1946145..1949569,4	MCF-7	breast:
7	chr12:1945750..1946705-chr12:2048995..2049750,2	MCF-7	breast:
8	chr12:1905406..1906059-chr12:1939762..1940329,2	MCF-7	breast:
9	chr12:1933541..1935951-chr12:1940567..1942424,2	K562	blood:
10	chr12:1949995..1951546-chr12:1955088..1956789,2	MCF-7	breast:
11	chr12:1910843..1912522-chr12:1945003..1947651,2	MCF-7	breast:
12	chr12:1930362..1931932-chr12:1934662..1936789,2	MCF-7	breast:
13	chr12:1936574..1939225-chr12:1940094..1944386,3	K562	blood:
14	chr12:1932447..1935067-chr12:1939828..1942115,3	MCF-7	breast:
15	chr12:1933541..1935951-chr12:1940567..1942424,2	K562	blood:
16	chr12:1947643..1951345-chr12:1957413..1959557,3	MCF-7	breast:
17	chr12:1947643..1951345-chr12:1957413..1959557,3	MCF-7	breast:
18	chr12:1930362..1931932-chr12:1934662..1936789,2	MCF-7	breast:
19	chr12:1797292..1800039-chr12:1940442..1943362,2	MCF-7	breast:
20	chr12:1929539..1932583-chr12:1944891..1948429,3	MCF-7	breast:
21	chr12:1945477..1946181-chr12:2041443..2042003,2	MCF-7	breast:
22	chr12:1939207..1940397-chr12:1950388..1951271,5	MCF-7	breast:
23	chr12:1939207..1940397-chr12:1950388..1951271,5	MCF-7	breast:
24	chr12:1946363..1947932-chr12:2045137..2046691,2	MCF-7	breast:
25	chr12:1947774..1950374-chr12:1986873..1988503,2	MCF-7	breast:
26	chr12:1952274..1954241-chr12:1954730..1957718,2	K562	blood:
27	chr12:1877224..1880546-chr12:1949279..1951143,3	MCF-7	breast:
28	chr12:1909603..1910441-chr12:1945244..1945817,2	MCF-7	breast:
29	chr12:1940153..1940669-chr12:2041125..2041895,2	MCF-7	breast:
30	chr12:1947284..1949728-chr12:2036486..2038838,2	MCF-7	breast:
31	chr12:1950359..1950994-chr12:2041053..2041904,2	MCF-7	breast:
32	chr12:1954206..1956342-chr12:2043639..2046868,3	MCF-7	breast:
33	chr12:1918012..1920353-chr12:1939627..1941633,2	MCF-7	breast:
34	chr12:1959456..1961016-chr12:1962388..1965205,2	MCF-7	breast:
35	chr12:1952274..1954241-chr12:1954730..1957718,2	K562	blood:
36	chr12:1950359..1950994-chr12:2041053..2041904,3	MCF-7	breast:
37	chr12:1925102..1928805-chr12:1946979..1949915,3	MCF-7	breast:
38	chr12:1951607..1953524-chr12:2057455..2059714,2	MCF-7	breast:
39	chr12:1929860..1932457-chr12:1936925..1938863,2	K562	blood:
40	chr12:1949517..1951136-chr12:2022065..2024789,2	MCF-7	breast:
41	chr12:1932447..1935067-chr12:1939828..1942115,3	MCF-7	breast:
42	chr12:1944160..1952960-chr12:2039965..2049915,22	MCF-7	breast:
43	chr12:1741511..1744510-chr12:1943871..1945697,2	K562	blood:
44	chr12:1905054..1907716-chr12:1943766..1946105,3	MCF-7	breast:
45	chr12:1949995..1951546-chr12:1955088..1956789,2	MCF-7	breast:
46	chr12:1923072..1925795-chr12:1938699..1940589,2	MCF-7	breast:
47	chr12:1905042..1905969-chr12:1944742..1945885,3	MCF-7	breast:
48	chr12:1950335..1952773-chr12:1969860..1971374,2	MCF-7	breast:
49	chr12:1905374..1907142-chr12:1951674..1953593,2	MCF-7	breast:
50	chr12:1945038..1946828-chr12:1971867..1974133,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADIPOR2-2	chr12:1929649-1929980	NONHSAT025427
2	lnc-ADIPOR2-2	chr12:1936576-1936796	NONHSAT025431
3	lnc-ADIPOR2-2	chr12:1929750-1929980	NONHSAT025431
4	lnc-ADIPOR2-2	chr12:1936895-1936982	NONHSAT025431
5	lnc-ADIPOR2-2	chr12:1936576-1936760	NONHSAT025428
6	lnc-ADIPOR2-2	chr12:1929676-1929980	NONHSAT025428
7	lnc-ADIPOR2-2	chr12:1936576-1936796	NONHSAT025429
8	lnc-ADIPOR2-2	chr12:1936895-1936963	NONHSAT025428
9	lnc-ADIPOR2-2	chr12:1937242-1937381	NONHSAT025429
10	lnc-ADIPOR2-2	chr12:1929738-1929980	NONHSAT025429
11	lnc-ADIPOR2-2	chr12:1940101-1940134	NONHSAT025429
12	lnc-ADIPOR2-2	chr12:1936573-1936894	NONHSAT025427

No data

Variant related genes	Relation type
LRTM2	TF binding region
LRTM2	CpG island
ENSG00000235049	chromatin interactions
ENSG00000151062	chromatin interactions
ENSG00000006831	chromatin interactions
ENSG00000166159	chromatin interactions
ENSG00000111186	chromatin interactions

Extended variants
information (count: 1709 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1709 , 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	rs10744553	chr12:1928289-1928290	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138515954	chr12:1928311-1928312	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs59962311	chr12:1928338-1928339	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373021048	chr12:1928342-1928343	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545218894	chr12:1928360-1928361	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs116764973	chr12:1928376-1928377	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186682882	chr12:1928379-1928380	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs76140106	chr12:1928486-1928487	Bivalent Enhancer Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs377657097	chr12:1928530-1928531	Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs531599406	chr12:1928538-1928539	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs141160737	chr12:1928562-1928563	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs112922242	chr12:1928569-1928570	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs150735589	chr12:1928600-1928601	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532335253	chr12:1928652-1928653	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs547217778	chr12:1928678-1928679	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs565398872	chr12:1928697-1928698	Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs545639689	chr12:1928748-1928749	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs149497645	chr12:1928750-1928751	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs557420913	chr12:1928752-1928753	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs370957543	chr12:1928755-1928756	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs190349153	chr12:1928784-1928785	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs144034120	chr12:1928871-1928872	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs571789305	chr12:1928873-1928874	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs77773567	chr12:1928990-1928991	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs140548264	chr12:1928991-1928992	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201555613	chr12:1928999-1929000	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs572541305	chr12:1929000-1929001	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111556529	chr12:1929024-1929025	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs370079003	chr12:1929077-1929078	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs576090157	chr12:1929102-1929103	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs543401005	chr12:1929136-1929137	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs187455319	chr12:1929138-1929139	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs532218445	chr12:1929151-1929152	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs189545537	chr12:1929181-1929182	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs144500161	chr12:1929188-1929189	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs559044245	chr12:1929195-1929196	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs182208617	chr12:1929202-1929203	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs59012815	chr12:1929204-1929205	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569357685	chr12:1929239-1929240	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs113683986	chr12:1929307-1929308	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs561493344	chr12:1929308-1929309	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs185249002	chr12:1929315-1929316	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs550216569	chr12:1929345-1929346	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs571862242	chr12:1929349-1929350	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs538880951	chr12:1929364-1929365	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs572984660	chr12:1929412-1929413	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs528893060	chr12:1929413-1929414	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs558408386	chr12:1929414-1929415	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369234817	chr12:1929419-1929420	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs542495404	chr12:1929437-1929438	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	22488967	CNVD

Chromatin state (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1905600-1928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:1920000-1939400	Weak transcription	Gastric	stomach
3	chr12:1928200-1928400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
4	chr12:1928200-1928400	Flanking Active TSS	HepG2	liver
5	chr12:1928200-1928600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:1928200-1929200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:1928200-1929400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:1928400-1928600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:1928400-1928600	Enhancers	HepG2	liver
10	chr12:1928400-1929000	Enhancers	Fetal Brain Female	brain
11	chr12:1928400-1929200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr12:1928400-1929200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:1928400-1929800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:1928400-1933000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr12:1928400-1933200	Enhancers	Fetal Brain Male	brain
16	chr12:1928600-1928800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:1928600-1929000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr12:1928600-1929000	Bivalent Enhancer	HepG2	liver
19	chr12:1928600-1929200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:1928600-1929200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:1928600-1929200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:1928600-1929400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
23	chr12:1928600-1930000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:1928600-1930800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr12:1928800-1929000	Enhancers	Brain Angular Gyrus	brain
26	chr12:1928800-1929200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
27	chr12:1928800-1929200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr12:1928800-1929200	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr12:1928800-1929400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:1928800-1929800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr12:1928800-1931400	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr12:1929000-1929200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:1929000-1929200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chr12:1929000-1929200	Bivalent Enhancer	Brain Germinal Matrix	brain
35	chr12:1929000-1929200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
36	chr12:1929000-1929400	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr12:1929000-1929600	Active TSS	Brain Anterior Caudate	brain
38	chr12:1929000-1929800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr12:1929000-1929800	Enhancers	Spleen	Spleen
40	chr12:1929000-1930000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr12:1929000-1930200	Bivalent Enhancer	Fetal Thymus	thymus
42	chr12:1929000-1930800	Bivalent Enhancer	Placenta	Placenta
43	chr12:1929000-1931200	Flanking Active TSS	Fetal Brain Female	brain
44	chr12:1929200-1929400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
45	chr12:1929200-1929400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
46	chr12:1929200-1929400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:1929200-1929400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:1929200-1929600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:1929200-1929600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr12:1929200-1929600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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