Variant report

Variant	nsv556999
Chromosome Location	chr12:1948947-1981450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:1101)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:1950924-1951113	K562	blood:	n/a	n/a
2	BHLHE40	chr12:1979460-1979468	K562	blood:	n/a	n/a
3	BHLHE40	chr12:1974549-1974700	K562	blood:	n/a	n/a
4	CEBPB	chr12:1960290-1960578	IMR90	lung:	n/a	n/a
5	CEBPB	chr12:1949067-1949617	MCF-7	breast:	n/a	n/a
6	CEBPB	chr12:1948985-1949607	MCF-7	breast:	n/a	n/a
7	CTCF	chr12:1962700-1962850	GM12872	blood:	n/a	chr12:1962840-1962848
8	CTCF	chr12:1960540-1960690	AG10803	skin:	n/a	n/a
9	CTCF	chr12:1980617-1980698	ProgFib	skin:	n/a	n/a
10	CTCF	chr12:1980682-1980762	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr12:1949740-1949890	HepG2	liver:	n/a	n/a
12	CTCF	chr12:1966944-1966981	LNCaP	prostate:	n/a	n/a
13	CTCF	chr12:1980225-1980843	GM19239	blood:	n/a	n/a
14	E2F4	chr12:1968881-1969065	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr12:1958924-1959064	MCF10A-Er-Src	breast:	n/a	n/a
16	EBF1	chr12:1951818-1952056	GM12878	blood:	n/a	chr12:1951932-1951941 chr12:1951931-1951942 chr12:1951932-1951942 chr12:1951932-1951941 chr12:1951907-1951918
17	EBF1	chr12:1951715-1952118	GM12878	blood:	n/a	chr12:1951932-1951941 chr12:1951931-1951942 chr12:1951932-1951942 chr12:1951932-1951941 chr12:1951907-1951918
18	ELF1	chr12:1974497-1974834	HepG2	liver:	n/a	chr12:1974668-1974679 chr12:1974667-1974680 chr12:1974668-1974679
19	ELF1	chr12:1974521-1974807	HepG2	liver:	n/a	chr12:1974668-1974679 chr12:1974667-1974680 chr12:1974668-1974679
20	ELF1	chr12:1974459-1974841	K562	blood:	n/a	chr12:1974668-1974679 chr12:1974667-1974680 chr12:1974668-1974679
21	EP300	chr12:1979216-1979485	T-47D	breast:	n/a	n/a
22	FOS	chr12:1960260-1960690	MCF10A-Er-Src	breast:	n/a	chr12:1960508-1960519
23	FOS	chr12:1960227-1960683	MCF10A-Er-Src	breast:	n/a	chr12:1960508-1960519
24	FOS	chr12:1960240-1960701	MCF10A-Er-Src	breast:	n/a	chr12:1960508-1960519
25	FOS	chr12:1968778-1969078	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr12:1971920-1971943	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr12:1960240-1960731	MCF10A-Er-Src	breast:	n/a	chr12:1960508-1960519
28	FOS	chr12:1968778-1969070	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr12:1968763-1969077	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr12:1968777-1969073	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr12:1961505-1961544	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr12:1960364-1960660	HUVEC	blood vessel:	n/a	chr12:1960508-1960519
33	FOSL2	chr12:1960283-1960747	SK-N-SH	brain:	n/a	n/a
34	FOXA1	chr12:1971224-1971579	T-47D	breast:	n/a	n/a
35	FOXA1	chr12:1971298-1971541	T-47D	breast:	n/a	n/a
36	FOXA1	chr12:1979174-1979614	T-47D	breast:	n/a	n/a
37	FOXA1	chr12:1968871-1969216	T-47D	breast:	n/a	n/a
38	GATA2	chr12:1972860-1973198	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr12:1948692-1949735	MCF-7	breast:	n/a	n/a
40	GATA3	chr12:1948836-1949598	MCF-7	breast:	n/a	n/a
41	GATA3	chr12:1960335-1960780	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr12:1949142-1949470	MCF-7	breast:	n/a	n/a
43	GATA3	chr12:1972819-1973121	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr12:1979269-1979600	T-47D	breast:	n/a	n/a
45	GATA3	chr12:1949118-1949477	MCF-7	breast:	n/a	n/a
46	GATA3	chr12:1979187-1979630	T-47D	breast:	n/a	n/a
47	GATA3	chr12:1968697-1969101	MCF-7	breast:	n/a	chr12:1969041-1969049
48	GATA3	chr12:1949033-1949450	T-47D	breast:	n/a	n/a
49	HA-E2F1	chr12:1948934-1949586	MCF-7	breast:	n/a	n/a
50	HDAC2	chr12:1948987-1949582	MCF-7	breast:	n/a	n/a

(count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1973367-1973417	HRE	kidney:	n/a
2	chr12:1963310-1963360	CMK	blood:	n/a
3	chr12:1949503-1949553	HCM	heart:	n/a
4	chr12:1973367-1973417	HRE	kidney:	n/a
5	chr12:1963310-1963360	CMK	blood:	n/a
6	chr12:1949503-1949553	HCM	heart:	n/a
7	chr12:1974724-1974774	NHDF-neo	bronchial:	n/a
8	chr12:1973208-1973258	SAEC	small airway:	n/a
9	chr12:1973340-1973390	HEK293	kidney:	embryo
10	chr12:1976671-1976721	HCT-116	colon:	n/a
11	chr12:1974122-1974172	HAEpiC	amniotic membrane:	n/a
12	chr12:1949586-1949636	NHDF-neo	bronchial:	n/a
13	chr12:1949586-1949636	T-47D	breast:	n/a
14	chr12:1949503-1949553	NHDF-neo	bronchial:	n/a
15	chr12:1973367-1973417	AG09319	gingival:	n/a
16	chr12:1970170-1970220	Caco-2	colon:	n/a
17	chr12:1973367-1973417	NHBE	bronchial:	n/a
18	chr12:1974168-1974218	A549	lung:	n/a
19	chr12:1978889-1978939	MCF-7	breast:	n/a
20	chr12:1978889-1978939	NT2-D1	testis:	n/a
21	chr12:1970170-1970220	HCM	heart:	n/a
22	chr12:1973367-1973417	H1-hESC	embryonic stem cell:	embryo
23	chr12:1974814-1974864	HEEpiC	esophagus:	n/a
24	chr12:1970170-1970220	HMEC	breast:	n/a
25	chr12:1973237-1973287	AG04450	lung:	fetal
26	chr12:1973340-1973390	HUVEC	blood vessel:	n/a
27	chr12:1970170-1970220	MCF10A-Er-Src	breast:	n/a
28	chr12:1973367-1973417	HCM	heart:	n/a
29	chr12:1976671-1976721	K562	blood:	n/a
30	chr12:1963310-1963360	MCF10A-Er-Src	breast:	n/a
31	chr12:1963310-1963360	K562	blood:	n/a
32	chr12:1974168-1974218	HIPEpiC	eye:	n/a
33	chr12:1973237-1973287	AG10803	skin:	n/a
34	chr12:1973340-1973390	RPTEC	kidney:	n/a
35	chr12:1974168-1974218	GM12892	blood:	n/a
36	chr12:1970170-1970220	PrEC	prostate:	n/a
37	chr12:1974724-1974774	CMK	blood:	n/a
38	chr12:1974814-1974864	RPTEC	kidney:	n/a
39	chr12:1949586-1949636	K562	blood:	n/a
40	chr12:1974724-1974774	H1-hESC	embryonic stem cell:	embryo
41	chr12:1976671-1976721	NH-A	brain:	n/a
42	chr12:1964603-1964653	NT2-D1	testis:	n/a
43	chr12:1970170-1970220	BE2_C	brain:	n/a
44	chr12:1978889-1978939	K562	blood:	n/a
45	chr12:1973237-1973287	HCPEpiC	choroid plexus:	n/a
46	chr12:1973872-1973922	HAEpiC	amniotic membrane:	n/a
47	chr12:1949503-1949553	T-47D	breast:	n/a
48	chr12:1973452-1973502	HNPCEpiC	eye:	n/a
49	chr12:1974724-1974774	NH-A	brain:	n/a
50	chr12:1974814-1974864	H1-hESC	embryonic stem cell:	embryo

(count:38 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1270 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1270 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs758166	chr12:1948947-1948948	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373370766	chr12:1948953-1948954	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs721159	chr12:1948977-1948978	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574513356	chr12:1949057-1949058	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs11835121	chr12:1949065-1949066	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563515414	chr12:1949071-1949072	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs575534088	chr12:1949072-1949073	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs189313243	chr12:1949082-1949083	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs182011258	chr12:1949097-1949098	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs185022743	chr12:1949098-1949099	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs373108961	chr12:1949114-1949115	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs189830172	chr12:1949115-1949116	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs561797013	chr12:1949117-1949118	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs181143444	chr12:1949134-1949135	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs546199431	chr12:1949186-1949187	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs758165	chr12:1949234-1949235	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10744554	chr12:1949309-1949310	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537753821	chr12:1949323-1949324	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs552411049	chr12:1949334-1949335	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs73047908	chr12:1949387-1949388	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs68174430	chr12:1949411-1949412	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529240040	chr12:1949414-1949415	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs377716278	chr12:1949454-1949455	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs10744555	chr12:1949463-1949464	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150758503	chr12:1949608-1949609	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs34273805	chr12:1949614-1949615	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs535566737	chr12:1949656-1949657	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs571695648	chr12:1949689-1949690	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs559364509	chr12:1949694-1949695	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs557370329	chr12:1949717-1949718	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs191637534	chr12:1949776-1949777	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs112913129	chr12:1949783-1949784	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs546096128	chr12:1949794-1949795	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs564347831	chr12:1949826-1949827	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs573156722	chr12:1949858-1949859	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs183421147	chr12:1949896-1949897	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs376597005	chr12:1949897-1949898	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs533220267	chr12:1949904-1949905	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs540468160	chr12:1949915-1949916	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs369000289	chr12:1949924-1949925	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs79821996	chr12:1949927-1949928	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs200977656	chr12:1949932-1949933	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs377756881	chr12:1949933-1949934	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs33972365	chr12:1949939-1949940	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs146752598	chr12:1949940-1949941	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs199688605	chr12:1949957-1949958	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs532757608	chr12:1949958-1949959	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs576179739	chr12:1949966-1949967	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs376350677	chr12:1949978-1949979	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs552472772	chr12:1949979-1949980	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 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:188 , 50 per page) page: 1 2 3 4

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	chr12:1944600-1949200	Enhancers	Fetal Brain Male	brain
4	chr12:1944800-1949200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:1945200-1950600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:1945800-1950000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:1945800-1950600	Enhancers	Brain Germinal Matrix	brain
8	chr12:1946000-1949000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:1946000-1949800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:1946000-1950400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:1946200-1951000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:1946600-1949800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:1946800-1952600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:1947200-1953400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:1947400-1950800	Enhancers	HepG2	liver
16	chr12:1948200-1950000	Enhancers	Fetal Brain Female	brain
17	chr12:1948400-1949000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:1948400-1949200	Enhancers	Fetal Kidney	kidney
19	chr12:1948600-1949000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:1948600-1949600	Weak transcription	Spleen	Spleen
21	chr12:1948600-1954000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:1948800-1949000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:1948800-1950200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:1948800-1950600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr12:1949000-1949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:1949000-1949800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:1949000-1949800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:1949000-1950000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:1949000-1952400	Enhancers	Primary B cells from cord blood	blood
30	chr12:1949000-1952800	Enhancers	Primary B cells from peripheral blood	blood
31	chr12:1949200-1949400	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:1949200-1949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:1949200-1949600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:1949200-1949600	Weak transcription	Fetal Brain Male	brain
35	chr12:1949400-1951000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:1949600-1950200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:1949600-1950600	Enhancers	Fetal Brain Male	brain
38	chr12:1949800-1950000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:1949800-1950000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr12:1949800-1950000	Enhancers	Fetal Thymus	thymus
41	chr12:1949800-1950200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr12:1949800-1950400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr12:1949800-1950400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:1949800-1950400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:1949800-1950400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:1949800-1950400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:1950000-1950200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:1950000-1950200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
49	chr12:1950000-1952600	Weak transcription	Fetal Brain Female	brain
50	chr12:1950200-1950400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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