Variant report

Variant	nsv898599
Chromosome Location	chr12:1942752-1989355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:268)
CpG islands
(count:1709)
Chromatin interactive
region (count:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:268 , 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	ARID3A	chr12:1947034-1947306	HepG2	liver:	n/a	n/a
2	ATF1	chr12:1950924-1951113	K562	blood:	n/a	n/a
3	BHLHE40	chr12:1979460-1979468	K562	blood:	n/a	n/a
4	BHLHE40	chr12:1974549-1974700	K562	blood:	n/a	n/a
5	CEBPB	chr12:1948985-1949607	MCF-7	breast:	n/a	n/a
6	CEBPB	chr12:1944447-1944650	K562	blood:	n/a	chr12:1944546-1944557
7	CEBPB	chr12:1960290-1960578	IMR90	lung:	n/a	n/a
8	CEBPB	chr12:1944453-1944613	H1-hESC	embryonic stem cell:	n/a	chr12:1944546-1944557
9	CEBPB	chr12:1947056-1947318	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:1944440-1944697	HepG2	liver:	n/a	chr12:1944546-1944557
11	CEBPB	chr12:1949067-1949617	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:1945329-1945409	GM12891	blood:	n/a	n/a
13	CTCF	chr12:1960540-1960690	AG10803	skin:	n/a	n/a
14	CTCF	chr12:1945304-1945424	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:1945311-1945430	MCF-7	breast:	n/a	n/a
16	CTCF	chr12:1945332-1945388	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr12:1945340-1945490	NB4	blood:	n/a	n/a
18	CTCF	chr12:1980225-1980843	GM19239	blood:	n/a	n/a
19	CTCF	chr12:1946340-1946490	RPTEC	kidney:	n/a	chr12:1946470-1946488
20	CTCF	chr12:1945300-1945450	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:1946360-1946510	HCPEpiC	choroid plexus:	n/a	chr12:1946470-1946488
22	CTCF	chr12:1945301-1945414	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:1946360-1946510	HepG2	liver:	n/a	chr12:1946470-1946488
24	CTCF	chr12:1962700-1962850	GM12872	blood:	n/a	chr12:1962840-1962848
25	CTCF	chr12:1945300-1945450	GM12878	blood:	n/a	n/a
26	CTCF	chr12:1945320-1945420	HepG2	liver:	n/a	n/a
27	CTCF	chr12:1945380-1945530	GM12873	blood:	n/a	n/a
28	CTCF	chr12:1966944-1966981	LNCaP	prostate:	n/a	n/a
29	CTCF	chr12:1945238-1945405	HepG2	liver:	n/a	n/a
30	CTCF	chr12:1945300-1945450	HepG2	liver:	n/a	n/a
31	CTCF	chr12:1945274-1945454	MCF-7	breast:	n/a	n/a
32	CTCF	chr12:1945260-1945410	Caco-2	colon:	n/a	n/a
33	CTCF	chr12:1945335-1945429	GM12892	blood:	n/a	n/a
34	CTCF	chr12:1947340-1947490	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr12:1980617-1980698	ProgFib	skin:	n/a	n/a
36	CTCF	chr12:1980682-1980762	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr12:1949740-1949890	HepG2	liver:	n/a	n/a
38	CTCF	chr12:1946340-1946490	NHEK	skin:	n/a	chr12:1946470-1946488
39	CTCF	chr12:1945313-1945406	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:1945260-1945410	WERI-Rb-1	eye:	n/a	n/a
41	E2F4	chr12:1968881-1969065	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr12:1958924-1959064	MCF10A-Er-Src	breast:	n/a	n/a
43	EBF1	chr12:1951715-1952118	GM12878	blood:	n/a	chr12:1951932-1951941 chr12:1951931-1951942 chr12:1951932-1951942 chr12:1951932-1951941 chr12:1951907-1951918
44	EBF1	chr12:1951818-1952056	GM12878	blood:	n/a	chr12:1951932-1951941 chr12:1951931-1951942 chr12:1951932-1951942 chr12:1951932-1951941 chr12:1951907-1951918
45	ELF1	chr12:1945719-1946467	MCF-7	breast:	n/a	n/a
46	ELF1	chr12:1974521-1974807	HepG2	liver:	n/a	chr12:1974668-1974679 chr12:1974667-1974680 chr12:1974668-1974679
47	ELF1	chr12:1974459-1974841	K562	blood:	n/a	chr12:1974668-1974679 chr12:1974667-1974680 chr12:1974668-1974679
48	ELF1	chr12:1974497-1974834	HepG2	liver:	n/a	chr12:1974668-1974679 chr12:1974667-1974680 chr12:1974668-1974679
49	EP300	chr12:1946961-1947410	HepG2	liver:	n/a	chr12:1947123-1947139
50	EP300	chr12:1947063-1947275	HepG2	liver:	n/a	chr12:1947123-1947139

(count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1974724-1974774	MCF-7	breast:	n/a
2	chr12:1974724-1974774	MCF-7	breast:	n/a
3	chr12:1948578-1948628	Hepatocyte	liver:	n/a
4	chr12:1947412-1947462	Caco-2	colon:	n/a
5	chr12:1974168-1974218	SK-N-MC	brain:	n/a
6	chr12:1964603-1964653	HCF	heart:	n/a
7	chr12:1943722-1943772	BE2_C	brain:	n/a
8	chr12:1946957-1947007	T-47D	breast:	n/a
9	chr12:1973237-1973287	NHDF-neo	bronchial:	n/a
10	chr12:1945300-1945350	AG04450	lung:	fetal
11	chr12:1948648-1948698	U87	brain:	n/a
12	chr12:1945300-1945350	Hepatocyte	liver:	n/a
13	chr12:1943758-1943808	HRCEpiC	kidney:	n/a
14	chr12:1974814-1974864	HUVEC	blood vessel:	n/a
15	chr12:1949503-1949553	PFSK-1	brain:	n/a
16	chr12:1974814-1974864	Hepatocyte	liver:	n/a
17	chr12:1973452-1973502	SAEC	small airway:	n/a
18	chr12:1946957-1947007	U87	brain:	n/a
19	chr12:1943722-1943772	HRE	kidney:	n/a
20	chr12:1963310-1963360	IMR90	lung:	fetal
21	chr12:1946957-1947007	Caco-2	colon:	n/a
22	chr12:1974814-1974864	AG04449	skin:	fetal
23	chr12:1973237-1973287	HRPEpiC	eye:	n/a
24	chr12:1974168-1974218	Caco-2	colon:	n/a
25	chr12:1974122-1974172	AG09309	skin:	n/a
26	chr12:1943758-1943808	PrEC	prostate:	n/a
27	chr12:1943889-1943939	HRCEpiC	kidney:	n/a
28	chr12:1978889-1978939	GM19239	blood:	n/a
29	chr12:1973340-1973390	RPTEC	kidney:	n/a
30	chr12:1974122-1974172	NHDF-neo	bronchial:	n/a
31	chr12:1948578-1948628	AG09309	skin:	n/a
32	chr12:1949586-1949636	PANC-1	pancreas:	n/a
33	chr12:1976671-1976721	HEEpiC	esophagus:	n/a
34	chr12:1974724-1974774	Hela-S3	cervix:	n/a
35	chr12:1964603-1964653	SAEC	small airway:	n/a
36	chr12:1947479-1947529	NB4	blood:	n/a
37	chr12:1973367-1973417	AG04449	skin:	fetal
38	chr12:1970170-1970220	NT2-D1	testis:	n/a
39	chr12:1973208-1973258	SK-N-SH	brain:	n/a
40	chr12:1952798-1952848	PrEC	prostate:	n/a
41	chr12:1973367-1973417	AG09309	skin:	n/a
42	chr12:1945300-1945350	HAEpiC	amniotic membrane:	n/a
43	chr12:1943889-1943939	HCF	heart:	n/a
44	chr12:1974122-1974172	AoSMC	blood vessel:	n/a
45	chr12:1948578-1948628	NHBE	bronchial:	n/a
46	chr12:1974168-1974218	HEEpiC	esophagus:	n/a
47	chr12:1964603-1964653	HRPEpiC	eye:	n/a
48	chr12:1974168-1974218	BE2_C	brain:	n/a
49	chr12:1970170-1970220	T-47D	breast:	n/a
50	chr12:1943758-1943808	AG09309	skin:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:1950335..1952773-chr12:1969860..1971374,2	MCF-7	breast:
2	chr12:1946363..1947932-chr12:2045137..2046691,2	MCF-7	breast:
3	chr12:1976877..1978383-chr12:1995618..1998420,2	MCF-7	breast:
4	chr12:1920587..1924096-chr12:1946145..1949569,4	MCF-7	breast:
5	chr12:1876884..1877711-chr12:1950746..1951257,2	MCF-7	breast:
6	chr12:1982062..1983660-chr12:1991935..1993547,2	MCF-7	breast:
7	chr12:1962397..1965390-chr12:1965944..1968413,2	K562	blood:
8	chr12:1936574..1939225-chr12:1940094..1944386,3	K562	blood:
9	chr12:1910843..1912522-chr12:1945003..1947651,2	MCF-7	breast:
10	chr12:1956703..1959604-chr12:1963408..1966102,2	MCF-7	breast:
11	chr12:1949995..1951546-chr12:1955088..1956789,2	MCF-7	breast:
12	chr12:1968515..1969082-chr12:2040995..2041606,2	MCF-7	breast:
13	chr12:1901985..1907754-chr12:1946580..1951659,8	MCF-7	breast:
14	chr12:1950359..1950994-chr12:2041053..2041904,3	MCF-7	breast:
15	chr12:1952274..1954241-chr12:1954730..1957718,2	K562	blood:
16	chr12:1947774..1950374-chr12:1986873..1988503,2	MCF-7	breast:
17	chr12:1953795..1956547-chr12:1969421..1971021,2	MCF-7	breast:
18	chr12:1950359..1950994-chr12:2041053..2041904,2	MCF-7	breast:
19	chr12:1877224..1880546-chr12:1949279..1951143,3	MCF-7	breast:
20	chr12:1954206..1956342-chr12:2043639..2046868,3	MCF-7	breast:
21	chr12:1950335..1952773-chr12:1969860..1971374,2	MCF-7	breast:
22	chr12:1944160..1952960-chr12:2039965..2049915,22	MCF-7	breast:
23	chr12:1905374..1907142-chr12:1951674..1953593,2	MCF-7	breast:
24	chr12:1953795..1956547-chr12:1969421..1971021,2	MCF-7	breast:
25	chr12:1909603..1910441-chr12:1945244..1945817,2	MCF-7	breast:
26	chr12:1945477..1946181-chr12:2041443..2042003,2	MCF-7	breast:
27	chr12:1949517..1951136-chr12:2022065..2024789,2	MCF-7	breast:
28	chr12:1797292..1800039-chr12:1940442..1943362,2	MCF-7	breast:
29	chr12:1947643..1951345-chr12:1957413..1959557,3	MCF-7	breast:
30	chr12:1929539..1932583-chr12:1944891..1948429,3	MCF-7	breast:
31	chr12:1925102..1928805-chr12:1946979..1949915,3	MCF-7	breast:
32	chr12:1959456..1961016-chr12:1962388..1965205,2	MCF-7	breast:
33	chr12:1947774..1950374-chr12:1986873..1988503,2	MCF-7	breast:
34	chr12:1956703..1959604-chr12:1963408..1966102,2	MCF-7	breast:
35	chr12:1952274..1954241-chr12:1954730..1957718,2	K562	blood:
36	chr12:1741511..1744510-chr12:1943871..1945697,2	K562	blood:
37	chr12:1945038..1946828-chr12:1971867..1974133,2	K562	blood:
38	chr12:1962744..1965202-chr12:1987725..1990187,2	MCF-7	breast:
39	chr12:1968515..1969333-chr12:2041106..2041850,2	MCF-7	breast:
40	chr12:1947284..1949728-chr12:2036486..2038838,2	MCF-7	breast:
41	chr12:1949995..1951546-chr12:1955088..1956789,2	MCF-7	breast:
42	chr12:1945750..1946705-chr12:2048995..2049750,2	MCF-7	breast:
43	chr12:1939207..1940397-chr12:1950388..1951271,5	MCF-7	breast:
44	chr12:1905343..1907993-chr12:1944504..1948626,5	MCF-7	breast:
45	chr12:1905042..1905969-chr12:1944742..1945885,3	MCF-7	breast:
46	chr12:1951607..1953524-chr12:2057455..2059714,2	MCF-7	breast:
47	chr12:1947445..1949197-chr12:2016726..2018832,2	MCF-7	breast:
48	chr12:1905054..1907716-chr12:1943766..1946105,3	MCF-7	breast:
49	chr12:1910081..1912246-chr12:1949040..1950547,2	K562	blood:
50	chr12:1947643..1951345-chr12:1957413..1959557,3	MCF-7	breast:

No data

Variant related genes	Relation type
CACNA2D4	TF binding region
CACNA2D4	CpG island
ENSG00000235049	chromatin interactions
ENSG00000006831	chromatin interactions
ENSG00000256706	chromatin interactions
ENSG00000111186	chromatin interactions
ENSG00000166159	chromatin interactions
ENSG00000151062	chromatin interactions

Extended variants
information (count: 1858 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1858 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7303599	chr12:1942752-1942753	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576733699	chr12:1942765-1942766	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs193239383	chr12:1942778-1942779	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs185635747	chr12:1942837-1942838	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7303742	chr12:1942840-1942841	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368763707	chr12:1942843-1942844	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560569196	chr12:1942888-1942889	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs144074012	chr12:1942889-1942890	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189315906	chr12:1942901-1942902	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548095252	chr12:1942903-1942904	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540525116	chr12:1942924-1942925	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191463067	chr12:1942997-1942998	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555784926	chr12:1943018-1943019	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs560690381	chr12:1943023-1943024	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs552120096	chr12:1943032-1943033	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147332406	chr12:1943067-1943068	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs554446279	chr12:1943110-1943111	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs80093051	chr12:1943116-1943117	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552983585	chr12:1943132-1943133	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs139421410	chr12:1943140-1943141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535415655	chr12:1943157-1943158	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs556977003	chr12:1943208-1943209	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs149880077	chr12:1943210-1943211	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570712629	chr12:1943213-1943214	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs144921500	chr12:1943227-1943228	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs565386229	chr12:1943258-1943259	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs377553051	chr12:1943266-1943267	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577321509	chr12:1943280-1943281	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs541175224	chr12:1943310-1943311	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369719454	chr12:1943324-1943325	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs79174514	chr12:1943384-1943385	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371260705	chr12:1943398-1943399	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375490061	chr12:1943409-1943410	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148636689	chr12:1943439-1943440	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541848800	chr12:1943446-1943447	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370258224	chr12:1943492-1943493	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563325706	chr12:1943497-1943498	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530752035	chr12:1943521-1943522	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142959308	chr12:1943524-1943525	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527879594	chr12:1943540-1943541	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552915594	chr12:1943606-1943607	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200104979	chr12:1943610-1943611	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs151123520	chr12:1943617-1943618	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377646243	chr12:1943628-1943629	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528257141	chr12:1943634-1943635	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546741957	chr12:1943643-1943644	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs202193340	chr12:1943672-1943673	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs139863701	chr12:1943677-1943678	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371056648	chr12:1943683-1943684	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535530328	chr12:1943685-1943686	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1935200-1946000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:1940200-1949400	Weak transcription	Right Atrium	heart
3	chr12:1940400-1945800	Weak transcription	Brain Germinal Matrix	brain
4	chr12:1940600-1944400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:1940600-1946000	Weak transcription	Spleen	Spleen
6	chr12:1940800-1944000	Weak transcription	Gastric	stomach
7	chr12:1940800-1944400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:1940800-1946200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:1940800-1953400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:1942000-1943200	Enhancers	Fetal Brain Female	brain
11	chr12:1942000-1943400	Enhancers	Fetal Brain Male	brain
12	chr12:1942400-1942800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr12:1942600-1942800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:1942600-1943200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:1942600-1943200	Enhancers	Brain Anterior Caudate	brain
16	chr12:1942800-1945000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:1943200-1944800	Weak transcription	Fetal Brain Female	brain
18	chr12:1943200-1945600	Weak transcription	Brain Anterior Caudate	brain
19	chr12:1943200-1948600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:1943400-1944600	Weak transcription	Fetal Brain Male	brain
21	chr12:1944200-1944400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:1944400-1945000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:1944400-1948400	Enhancers	Brain Cingulate Gyrus	brain
24	chr12:1944600-1945000	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:1944600-1949200	Enhancers	Fetal Brain Male	brain
26	chr12:1944800-1945000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:1944800-1945000	Enhancers	Fetal Brain Female	brain
28	chr12:1944800-1945000	Bivalent Enhancer	HepG2	liver
29	chr12:1944800-1949200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:1945000-1945400	Weak transcription	Fetal Brain Female	brain
31	chr12:1945000-1945800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:1945000-1946000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:1945000-1946200	Enhancers	HepG2	liver
34	chr12:1945000-1948200	Enhancers	Brain Hippocampus Middle	brain
35	chr12:1945200-1950600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:1945400-1947400	Enhancers	Fetal Brain Female	brain
37	chr12:1945600-1946000	Enhancers	Brain Anterior Caudate	brain
38	chr12:1945800-1946400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:1945800-1948400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr12:1945800-1950000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:1945800-1950600	Enhancers	Brain Germinal Matrix	brain
42	chr12:1946000-1946200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:1946000-1946400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
44	chr12:1946000-1946400	Enhancers	Brain Angular Gyrus	brain
45	chr12:1946000-1946400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:1946000-1946600	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr12:1946000-1946600	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr12:1946000-1946600	Enhancers	Spleen	Spleen
49	chr12:1946000-1946800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:1946000-1947600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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