Variant report

Variant	nsv1040260
Chromosome Location	chr12:1947193-1983782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:202)
CpG islands
(count:1405)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:202 , 50 per page) page: 1 2 3 4 5

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	chr12:1974549-1974700	K562	blood:	n/a	n/a
4	BHLHE40	chr12:1979460-1979468	K562	blood:	n/a	n/a
5	CEBPB	chr12:1948985-1949607	MCF-7	breast:	n/a	n/a
6	CEBPB	chr12:1947056-1947318	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:1960290-1960578	IMR90	lung:	n/a	n/a
8	CEBPB	chr12:1949067-1949617	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:1949740-1949890	HepG2	liver:	n/a	n/a
10	CTCF	chr12:1947340-1947490	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr12:1980682-1980762	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr12:1962700-1962850	GM12872	blood:	n/a	chr12:1962840-1962848
13	CTCF	chr12:1980225-1980843	GM19239	blood:	n/a	n/a
14	CTCF	chr12:1966944-1966981	LNCaP	prostate:	n/a	n/a
15	CTCF	chr12:1980617-1980698	ProgFib	skin:	n/a	n/a
16	CTCF	chr12:1960540-1960690	AG10803	skin:	n/a	n/a
17	E2F4	chr12:1968881-1969065	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr12:1958924-1959064	MCF10A-Er-Src	breast:	n/a	n/a
19	EBF1	chr12:1951715-1952118	GM12878	blood:	n/a	chr12:1951932-1951941 chr12:1951931-1951942 chr12:1951932-1951942 chr12:1951932-1951941 chr12:1951907-1951918
20	EBF1	chr12:1951818-1952056	GM12878	blood:	n/a	chr12:1951932-1951941 chr12:1951931-1951942 chr12:1951932-1951942 chr12:1951932-1951941 chr12:1951907-1951918
21	ELF1	chr12:1974497-1974834	HepG2	liver:	n/a	chr12:1974668-1974679 chr12:1974667-1974680 chr12:1974668-1974679
22	ELF1	chr12:1974459-1974841	K562	blood:	n/a	chr12:1974668-1974679 chr12:1974667-1974680 chr12:1974668-1974679
23	ELF1	chr12:1974521-1974807	HepG2	liver:	n/a	chr12:1974668-1974679 chr12:1974667-1974680 chr12:1974668-1974679
24	EP300	chr12:1946883-1947411	HepG2	liver:	n/a	chr12:1947123-1947139
25	EP300	chr12:1947063-1947275	HepG2	liver:	n/a	chr12:1947123-1947139
26	EP300	chr12:1946961-1947410	HepG2	liver:	n/a	chr12:1947123-1947139
27	EP300	chr12:1947037-1947447	SK-N-SH_RA	brain:	n/a	chr12:1947123-1947139
28	EP300	chr12:1979216-1979485	T-47D	breast:	n/a	n/a
29	EP300	chr12:1946975-1947381	SK-N-SH_RA	brain:	n/a	chr12:1947123-1947139
30	EP300	chr12:1945462-1948182	SK-N-SH	brain:	n/a	chr12:1947123-1947139
31	FOS	chr12:1960364-1960660	HUVEC	blood vessel:	n/a	chr12:1960508-1960519
32	FOS	chr12:1971920-1971943	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr12:1960227-1960683	MCF10A-Er-Src	breast:	n/a	chr12:1960508-1960519
34	FOS	chr12:1968778-1969078	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr12:1968763-1969077	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr12:1960240-1960731	MCF10A-Er-Src	breast:	n/a	chr12:1960508-1960519
37	FOS	chr12:1960260-1960690	MCF10A-Er-Src	breast:	n/a	chr12:1960508-1960519
38	FOS	chr12:1960240-1960701	MCF10A-Er-Src	breast:	n/a	chr12:1960508-1960519
39	FOS	chr12:1961505-1961544	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr12:1968777-1969073	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr12:1968778-1969070	MCF10A-Er-Src	breast:	n/a	n/a
42	FOSL2	chr12:1946862-1947350	HepG2	liver:	n/a	n/a
43	FOSL2	chr12:1946957-1947345	HepG2	liver:	n/a	n/a
44	FOSL2	chr12:1960283-1960747	SK-N-SH	brain:	n/a	n/a
45	FOXA1	chr12:1946825-1947293	HepG2	liver:	n/a	n/a
46	FOXA1	chr12:1971224-1971579	T-47D	breast:	n/a	n/a
47	FOXA1	chr12:1946907-1947482	HepG2	liver:	n/a	n/a
48	FOXA1	chr12:1946865-1947448	HepG2	liver:	n/a	n/a
49	FOXA1	chr12:1968871-1969216	T-47D	breast:	n/a	n/a
50	FOXA1	chr12:1946882-1947414	HepG2	liver:	n/a	n/a

(count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1948648-1948698	HCF	heart:	n/a
2	chr12:1973367-1973417	K562	blood:	n/a
3	chr12:1948648-1948698	HCF	heart:	n/a
4	chr12:1973367-1973417	K562	blood:	n/a
5	chr12:1949586-1949636	AoSMC	blood vessel:	n/a
6	chr12:1973340-1973390	HPAEpiC	pulmonary alveolar:	n/a
7	chr12:1973208-1973258	AG09319	gingival:	n/a
8	chr12:1949586-1949636	ProgFib	skin:	n/a
9	chr12:1974724-1974774	HCT-116	colon:	n/a
10	chr12:1947479-1947529	K562	blood:	n/a
11	chr12:1949503-1949553	AG04449	skin:	fetal
12	chr12:1974122-1974172	ProgFib	skin:	n/a
13	chr12:1964603-1964653	K562	blood:	n/a
14	chr12:1976671-1976721	AoSMC	blood vessel:	n/a
15	chr12:1947412-1947462	PrEC	prostate:	n/a
16	chr12:1949586-1949636	SAEC	small airway:	n/a
17	chr12:1947412-1947462	T-47D	breast:	n/a
18	chr12:1974122-1974172	GM12878	blood:	n/a
19	chr12:1949503-1949553	GM12878	blood:	n/a
20	chr12:1973208-1973258	PANC-1	pancreas:	n/a
21	chr12:1964603-1964653	LNCaP	prostate:	n/a
22	chr12:1976671-1976721	HEK293	kidney:	embryo
23	chr12:1973208-1973258	HIPEpiC	eye:	n/a
24	chr12:1973237-1973287	HPAEpiC	pulmonary alveolar:	n/a
25	chr12:1964603-1964653	Caco-2	colon:	n/a
26	chr12:1970170-1970220	ProgFib	skin:	n/a
27	chr12:1970170-1970220	GM12878	blood:	n/a
28	chr12:1963310-1963360	SKMC	muscle:	n/a
29	chr12:1978889-1978939	HRPEpiC	eye:	n/a
30	chr12:1973452-1973502	NB4	blood:	n/a
31	chr12:1949586-1949636	RPTEC	kidney:	n/a
32	chr12:1973237-1973287	SKMC	muscle:	n/a
33	chr12:1973872-1973922	AG09319	gingival:	n/a
34	chr12:1973237-1973287	SK-N-SH_RA	brain:	n/a
35	chr12:1974814-1974864	Hepatocyte	liver:	n/a
36	chr12:1952798-1952848	MCF-7	breast:	n/a
37	chr12:1949503-1949553	MCF-7	breast:	n/a
38	chr12:1947412-1947462	Jurkat	blood:	n/a
39	chr12:1973452-1973502	AG10803	skin:	n/a
40	chr12:1973340-1973390	HIPEpiC	eye:	n/a
41	chr12:1974122-1974172	SK-N-SH	brain:	n/a
42	chr12:1948578-1948628	SKMC	muscle:	n/a
43	chr12:1964603-1964653	ECC-1	luminal epithelium:	n/a
44	chr12:1976671-1976721	LNCaP	prostate:	n/a
45	chr12:1947412-1947462	HCM	heart:	n/a
46	chr12:1974724-1974774	HNPCEpiC	eye:	n/a
47	chr12:1949503-1949553	HRCEpiC	kidney:	n/a
48	chr12:1963310-1963360	HMEC	breast:	n/a
49	chr12:1973452-1973502	HRPEpiC	eye:	n/a
50	chr12:1949503-1949553	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:1910081..1912246-chr12:1949040..1950547,2	K562	blood:
2	chr12:1956703..1959604-chr12:1963408..1966102,2	MCF-7	breast:
3	chr12:1946363..1947932-chr12:2045137..2046691,2	MCF-7	breast:
4	chr12:1925102..1928805-chr12:1946979..1949915,3	MCF-7	breast:
5	chr12:1953795..1956547-chr12:1969421..1971021,2	MCF-7	breast:
6	chr12:1950335..1952773-chr12:1969860..1971374,2	MCF-7	breast:
7	chr12:1982062..1983660-chr12:1991935..1993547,2	MCF-7	breast:
8	chr12:1737994..1740960-chr12:1947307..1949303,2	MCF-7	breast:
9	chr12:1962397..1965390-chr12:1965944..1968413,2	K562	blood:
10	chr12:1876884..1877711-chr12:1950746..1951257,2	MCF-7	breast:
11	chr12:1947284..1949728-chr12:2036486..2038838,2	MCF-7	breast:
12	chr12:1951607..1953524-chr12:2057455..2059714,2	MCF-7	breast:
13	chr12:1947774..1950374-chr12:1986873..1988503,2	MCF-7	breast:
14	chr12:1949995..1951546-chr12:1955088..1956789,2	MCF-7	breast:
15	chr12:1968515..1969082-chr12:2040995..2041606,2	MCF-7	breast:
16	chr12:1947445..1949197-chr12:2016726..2018832,2	MCF-7	breast:
17	chr12:1952274..1954241-chr12:1954730..1957718,2	K562	blood:
18	chr12:1939207..1940397-chr12:1950388..1951271,5	MCF-7	breast:
19	chr12:1947643..1951345-chr12:1957413..1959557,3	MCF-7	breast:
20	chr12:1968515..1969333-chr12:2041106..2041850,2	MCF-7	breast:
21	chr12:1905343..1907993-chr12:1944504..1948626,5	MCF-7	breast:
22	chr12:1950359..1950994-chr12:2041053..2041904,2	MCF-7	breast:
23	chr12:1952274..1954241-chr12:1954730..1957718,2	K562	blood:
24	chr12:1901985..1907754-chr12:1946580..1951659,8	MCF-7	breast:
25	chr12:1877224..1880546-chr12:1949279..1951143,3	MCF-7	breast:
26	chr12:1920587..1924096-chr12:1946145..1949569,4	MCF-7	breast:
27	chr12:1950335..1952773-chr12:1969860..1971374,2	MCF-7	breast:
28	chr12:1959456..1961016-chr12:1962388..1965205,2	MCF-7	breast:
29	chr12:1947643..1951345-chr12:1957413..1959557,3	MCF-7	breast:
30	chr12:1944160..1952960-chr12:2039965..2049915,22	MCF-7	breast:
31	chr12:1929539..1932583-chr12:1944891..1948429,3	MCF-7	breast:
32	chr12:1949517..1951136-chr12:2022065..2024789,2	MCF-7	breast:
33	chr12:1945038..1946828-chr12:1971867..1974133,2	K562	blood:
34	chr12:1954206..1956342-chr12:2043639..2046868,3	MCF-7	breast:
35	chr12:1910843..1912522-chr12:1945003..1947651,2	MCF-7	breast:
36	chr12:1799987..1802012-chr12:1946925..1950411,3	MCF-7	breast:
37	chr12:1950359..1950994-chr12:2041053..2041904,3	MCF-7	breast:
38	chr12:1978767..1980595-chr12:2025590..2028373,2	MCF-7	breast:
39	chr12:1956703..1959604-chr12:1963408..1966102,2	MCF-7	breast:
40	chr12:1949995..1951546-chr12:1955088..1956789,2	MCF-7	breast:
41	chr12:1905374..1907142-chr12:1951674..1953593,2	MCF-7	breast:
42	chr12:1976877..1978383-chr12:1995618..1998420,2	MCF-7	breast:
43	chr12:1953795..1956547-chr12:1969421..1971021,2	MCF-7	breast:

No data

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

Extended variants
information (count: 1424 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1424 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10735004	chr12:1947193-1947194	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs370498348	chr12:1947195-1947196	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs545724041	chr12:1947210-1947211	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs144099046	chr12:1947217-1947218	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs560731281	chr12:1947218-1947219	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs115655166	chr12:1947253-1947254	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs56852539	chr12:1947254-1947255	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561515172	chr12:1947272-1947273	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs183894598	chr12:1947333-1947334	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs550203473	chr12:1947345-1947346	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs561704564	chr12:1947349-1947350	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs74854062	chr12:1947356-1947357	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs532340075	chr12:1947397-1947398	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs146500398	chr12:1947398-1947399	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs529252140	chr12:1947412-1947413	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs529923889	chr12:1947423-1947424	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs568420831	chr12:1947430-1947431	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs547285253	chr12:1947431-1947432	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs188787933	chr12:1947434-1947435	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs536750253	chr12:1947443-1947444	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs566004841	chr12:1947461-1947462	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs558581199	chr12:1947480-1947481	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs374908962	chr12:1947491-1947492	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs143204027	chr12:1947496-1947497	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs552981136	chr12:1947538-1947539	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs572809338	chr12:1947544-1947545	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs78245320	chr12:1947591-1947592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs554869728	chr12:1947612-1947613	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs576542438	chr12:1947622-1947623	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs543570173	chr12:1947634-1947635	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs565352498	chr12:1947664-1947665	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs532447834	chr12:1947668-1947669	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs541062943	chr12:1947682-1947683	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs559313857	chr12:1947700-1947701	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs151242834	chr12:1947829-1947830	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs192676209	chr12:1947905-1947906	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs9971758	chr12:1947930-1947931	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34041027	chr12:1947931-1947932	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs569767046	chr12:1947936-1947937	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs569760351	chr12:1947964-1947965	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs183739832	chr12:1948020-1948021	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs537103876	chr12:1948027-1948028	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs111303054	chr12:1948079-1948080	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs372088315	chr12:1948090-1948091	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs191696142	chr12:1948100-1948101	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs555506343	chr12:1948146-1948147	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs7138109	chr12:1948158-1948159	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536956840	chr12:1948169-1948170	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs55900766	chr12:1948171-1948172	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs370794827	chr12:1948206-1948207	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 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:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1940200-1949400	Weak transcription	Right Atrium	heart
2	chr12:1940800-1953400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:1943200-1948600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:1944400-1948400	Enhancers	Brain Cingulate Gyrus	brain
5	chr12:1944600-1949200	Enhancers	Fetal Brain Male	brain
6	chr12:1944800-1949200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:1945000-1948200	Enhancers	Brain Hippocampus Middle	brain
8	chr12:1945200-1950600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:1945400-1947400	Enhancers	Fetal Brain Female	brain
10	chr12:1945800-1948400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr12:1945800-1950000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:1945800-1950600	Enhancers	Brain Germinal Matrix	brain
13	chr12:1946000-1947600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:1946000-1948000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:1946000-1948000	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr12:1946000-1948400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:1946000-1949000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:1946000-1949800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:1946000-1950400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:1946200-1947200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:1946200-1947400	Flanking Active TSS	HepG2	liver
22	chr12:1946200-1947600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:1946200-1951000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:1946400-1947600	Weak transcription	Brain Angular Gyrus	brain
25	chr12:1946400-1947800	Enhancers	A549	lung
26	chr12:1946400-1948400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr12:1946400-1948600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:1946600-1947400	Enhancers	Brain Substantia Nigra	brain
29	chr12:1946600-1947600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:1946600-1947800	Enhancers	NHDF-Ad	bronchial
31	chr12:1946600-1948400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:1946600-1948400	Weak transcription	Spleen	Spleen
33	chr12:1946600-1948800	Enhancers	Brain Anterior Caudate	brain
34	chr12:1946600-1949800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:1946800-1952600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:1947000-1947200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr12:1947000-1947200	Bivalent Enhancer	Fetal Stomach	stomach
38	chr12:1947000-1947400	Enhancers	HSMMtube	muscle
39	chr12:1947000-1947600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:1947000-1947600	Bivalent Enhancer	NH-A	brain
41	chr12:1947000-1947800	Enhancers	HSMM	muscle
42	chr12:1947200-1947400	Enhancers	Fetal Kidney	kidney
43	chr12:1947200-1953400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:1947400-1948200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:1947400-1948200	Flanking Active TSS	Fetal Brain Female	brain
46	chr12:1947400-1948400	Weak transcription	Fetal Kidney	kidney
47	chr12:1947400-1950800	Enhancers	HepG2	liver
48	chr12:1947600-1948000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:1947600-1948600	Enhancers	Brain Angular Gyrus	brain
50	chr12:1947600-1948800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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