Variant report

Variant	nsv455734
Chromosome Location	chr12:124511908-124772515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2938)
CpG islands
(count:2263)
Chromatin interactive
region (count:162)
LncRNA
region (count:37)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2938 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:124521147-124521501	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:124673142-124673342	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:124615209-124615614	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:124743841-124744695	K562	blood:	n/a	n/a
5	ARID3A	chr12:124633863-124633864	K562	blood:	n/a	n/a
6	ATF1	chr12:124675443-124675916	K562	blood:	n/a	n/a
7	ATF1	chr12:124646901-124647100	K562	blood:	n/a	n/a
8	ATF1	chr12:124744241-124744599	K562	blood:	n/a	n/a
9	ATF1	chr12:124714691-124715007	K562	blood:	n/a	n/a
10	ATF1	chr12:124594322-124594607	K562	blood:	n/a	n/a
11	ATF1	chr12:124663213-124663277	K562	blood:	n/a	n/a
12	ATF1	chr12:124674907-124675162	K562	blood:	n/a	n/a
13	ATF1	chr12:124743729-124744010	K562	blood:	n/a	n/a
14	ATF1	chr12:124511579-124512075	K562	blood:	n/a	n/a
15	ATF1	chr12:124712862-124712967	K562	blood:	n/a	n/a
16	ATF1	chr12:124730390-124730718	K562	blood:	n/a	n/a
17	ATF2	chr12:124758134-124758553	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr12:124611385-124611914	GM12878	blood:	n/a	n/a
19	ATF2	chr12:124609933-124610382	GM12878	blood:	n/a	n/a
20	ATF2	chr12:124632071-124632565	GM12878	blood:	n/a	n/a
21	ATF2	chr12:124675444-124675932	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr12:124609923-124610388	GM12878	blood:	n/a	n/a
23	ATF2	chr12:124521041-124521486	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr12:124625264-124625831	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr12:124675443-124675917	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr12:124625236-124626332	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF3	chr12:124594324-124594520	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF3	chr12:124594241-124594625	GM12878	blood:	n/a	n/a
29	ATF3	chr12:124594283-124594573	K562	blood:	n/a	n/a
30	ATF3	chr12:124594197-124594666	HepG2	liver:	n/a	n/a
31	ATF3	chr12:124594308-124594500	HepG2	liver:	n/a	n/a
32	ATF3	chr12:124594353-124594485	GM12878	blood:	n/a	n/a
33	ATF3	chr12:124604536-124604763	K562	blood:	n/a	n/a
34	ATF3	chr12:124594271-124594693	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF3	chr12:124555079-124555263	K562	blood:	n/a	n/a
36	ATF3	chr12:124725031-124725322	K562	blood:	n/a	n/a
37	ATF3	chr12:124675595-124675789	K562	blood:	n/a	n/a
38	ATF3	chr12:124758162-124758508	K562	blood:	n/a	chr12:124758309-124758322
39	ATF3	chr12:124758228-124758547	K562	blood:	n/a	chr12:124758309-124758322
40	BACH1	chr12:124744335-124744520	K562	blood:	n/a	n/a
41	BACH1	chr12:124696352-124696552	K562	blood:	n/a	n/a
42	BACH1	chr12:124538438-124538677	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr12:124582998-124583224	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr12:124625367-124625926	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr12:124680202-124680363	H1-hESC	embryonic stem cell:	n/a	n/a
46	BATF	chr12:124555279-124555468	GM12878	blood:	n/a	n/a
47	BATF	chr12:124609954-124610413	GM12878	blood:	n/a	n/a
48	BATF	chr12:124611396-124611955	GM12878	blood:	n/a	chr12:124611701-124611712
49	BATF	chr12:124611466-124611870	GM12878	blood:	n/a	chr12:124611701-124611712
50	BATF	chr12:124573916-124574248	GM12878	blood:	n/a	n/a

(count:2263 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124744261-124744311	GM12891	blood:	n/a
2	chr12:124585152-124585202	HEEpiC	esophagus:	n/a
3	chr12:124590463-124590513	NT2-D1	testis:	n/a
4	chr12:124600518-124600568	HRCEpiC	kidney:	n/a
5	chr12:124600431-124600481	AoSMC	blood vessel:	n/a
6	chr12:124744261-124744311	NHDF-neo	bronchial:	n/a
7	chr12:124744261-124744311	GM12891	blood:	n/a
8	chr12:124585152-124585202	HEEpiC	esophagus:	n/a
9	chr12:124590463-124590513	NT2-D1	testis:	n/a
10	chr12:124600518-124600568	HRCEpiC	kidney:	n/a
11	chr12:124600431-124600481	AoSMC	blood vessel:	n/a
12	chr12:124744261-124744311	NHDF-neo	bronchial:	n/a
13	chr12:124733846-124733896	LNCaP	prostate:	n/a
14	chr12:124726864-124726914	BE2_C	brain:	n/a
15	chr12:124751628-124751678	HAEpiC	amniotic membrane:	n/a
16	chr12:124642214-124642264	K562	blood:	n/a
17	chr12:124512038-124512088	T-47D	breast:	n/a
18	chr12:124607875-124607925	SAEC	small airway:	n/a
19	chr12:124661629-124661679	AG09319	gingival:	n/a
20	chr12:124521481-124521531	HepG2	liver:	n/a
21	chr12:124763800-124763850	HEK293	kidney:	embryo
22	chr12:124726864-124726914	MCF-7	breast:	n/a
23	chr12:124651862-124651912	HMEC	breast:	n/a
24	chr12:124751628-124751678	NB4	blood:	n/a
25	chr12:124726864-124726914	ProgFib	skin:	n/a
26	chr12:124601493-124601543	SK-N-MC	brain:	n/a
27	chr12:124616497-124616547	SK-N-MC	brain:	n/a
28	chr12:124661629-124661679	Caco-2	colon:	n/a
29	chr12:124744261-124744311	SK-N-SH_RA	brain:	n/a
30	chr12:124529439-124529489	AG09319	gingival:	n/a
31	chr12:124585152-124585202	NH-A	brain:	n/a
32	chr12:124751591-124751641	HCF	heart:	n/a
33	chr12:124601493-124601543	HMEC	breast:	n/a
34	chr12:124751628-124751678	AG09309	skin:	n/a
35	chr12:124702221-124702271	ovcar-3	ovarian:	n/a
36	chr12:124651970-124652020	HRE	kidney:	n/a
37	chr12:124672621-124672671	HIPEpiC	eye:	n/a
38	chr12:124693173-124693223	AG10803	skin:	n/a
39	chr12:124600431-124600481	A549	lung:	n/a
40	chr12:124585444-124585494	SAEC	small airway:	n/a
41	chr12:124515061-124515111	T-47D	breast:	n/a
42	chr12:124607875-124607925	H1-hESC	embryonic stem cell:	embryo
43	chr12:124512038-124512088	HIPEpiC	eye:	n/a
44	chr12:124632549-124632599	AG10803	skin:	n/a
45	chr12:124616497-124616547	Jurkat	blood:	n/a
46	chr12:124702221-124702271	HL-60	blood:	n/a
47	chr12:124651862-124651912	ovcar-3	ovarian:	n/a
48	chr12:124651776-124651826	Hepatocyte	liver:	n/a
49	chr12:124651970-124652020	GM19239	blood:	n/a
50	chr12:124607875-124607925	HL-60	blood:	n/a

(count:162 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr12:124673692..124676490-chr12:124681372..124684204,2	K562	blood:
2	chr12:124746104..124746706-chr2:211100326..211100835,2	MCF-7	breast:
3	chr12:124679432..124681822-chr12:124687516..124690464,2	K562	blood:
4	chr12:124547212..124549096-chr12:124550673..124553525,3	K562	blood:
5	chr12:124510880..124513172-chr12:125217385..125219889,2	K562	blood:
6	chr12:124524796..124526483-chr12:124529562..124531770,2	K562	blood:
7	chr12:124761013..124763001-chr12:124773389..124775658,2	MCF-7	breast:
8	chr12:124744067..124746068-chr12:124750154..124752620,2	K562	blood:
9	chr12:124520858..124521915-chr12:124805284..124806191,5	MCF-7	breast:
10	chr12:124761137..124763639-chr12:124766375..124767941,2	K562	blood:
11	chr12:124521403..124524267-chr12:124525172..124528946,3	K562	blood:
12	chr12:124654056..124655953-chr12:124657708..124659430,2	K562	blood:
13	chr12:124704320..124708594-chr12:124715097..124718972,4	MCF-7	breast:
14	chr12:124651160..124652772-chr12:124652803..124654387,2	K562	blood:
15	chr12:124521210..124521753-chr12:124805186..124806176,2	MCF-7	breast:
16	chr12:124456427..124458717-chr12:124514754..124517707,2	MCF-7	breast:
17	chr12:124673340..124677254-chr12:124691442..124694738,3	MCF-7	breast:
18	chr12:124677047..124679151-chr12:124697605..124700364,2	MCF-7	breast:
19	chr12:124730651..124732379-chr12:125394116..125396115,2	K562	blood:
20	chr12:124700975..124703759-chr12:124705646..124707200,2	MCF-7	breast:
21	chr12:124699930..124701619-chr12:124701941..124703686,2	K562	blood:
22	chr12:124767721..124769329-chr12:124769472..124771059,2	MCF-7	breast:
23	chr12:124730695..124733252-chr12:124757049..124758772,2	MCF-7	breast:
24	chr12:124528224..124529883-chr12:124531757..124534004,2	MCF-7	breast:
25	chr12:124709938..124711508-chr12:124714610..124716845,2	MCF-7	breast:
26	chr12:124521188..124521824-chr12:124806682..124807336,2	MCF-7	breast:
27	chr12:124583853..124585676-chr12:124587897..124589981,2	MCF-7	breast:
28	chr12:124674017..124675949-chr12:124744781..124746712,2	MCF-7	breast:
29	chr12:124569269..124571295-chr12:124672073..124674047,2	MCF-7	breast:
30	chr12:124646500..124647369-chr12:124805388..124806131,3	MCF-7	breast:
31	chr12:124767721..124769329-chr12:124769472..124771059,2	MCF-7	breast:
32	chr12:124750588..124754332-chr12:124755351..124759150,4	K562	blood:
33	chr12:124767030..124769207-chr12:124772564..124774703,2	K562	blood:
34	chr12:124676315..124677962-chr12:124678657..124681009,2	MCF-7	breast:
35	chr12:124520936..124521747-chr12:125251229..125251813,3	MCF-7	breast:
36	chr12:124650437..124653353-chr12:124656676..124658500,2	MCF-7	breast:
37	chr12:124688677..124690581-chr12:124697993..124700796,2	K562	blood:
38	chr12:124731729..124734327-chr12:124735964..124738946,2	MCF-7	breast:
39	chr12:124671342..124675404-chr12:124675749..124680438,5	MCF-7	breast:
40	chr12:124713619..124715236-chr12:124718377..124720337,2	MCF-7	breast:
41	chr12:124674009..124675617-chr12:124796765..124798920,2	MCF-7	breast:
42	chr12:124686251..124689388-chr12:124691885..124694444,3	K562	blood:
43	chr12:124758459..124760131-chr12:124763895..124766059,2	K562	blood:
44	chr12:124604134..124606540-chr12:124636044..124638114,2	K562	blood:
45	chr12:124667740..124669717-chr12:124675023..124677753,2	MCF-7	breast:
46	chr12:124673738..124676426-chr12:124681447..124683597,2	MCF-7	breast:
47	chr12:124744067..124746068-chr12:124750154..124752620,2	K562	blood:
48	chr12:124528313..124529938-chr12:124541033..124543445,2	MCF-7	breast:
49	chr12:124547553..124549096-chr12:124550673..124553525,2	K562	blood:
50	chr12:124734739..124737505-chr12:124738525..124741098,2	K562	blood:

(count:37 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM101A-2	chr12:124725313-124725562	XLOC_009927
2	lnc-NCOR2-1	chr12:124742379-124742644	XLOC_010235
3	lnc-FAM101A-2	chr12:124680004-124680015	XLOC_009927
4	lnc-NCOR2-3	chr12:124688048-124688155	XLOC_010233
5	lnc-NCOR2-1	chr12:124750642-124750677	XLOC_010235
6	lnc-ZNF664-2	chr12:124574282-124574327	XLOC_009926
7	lnc-NCOR2-2	chr12:124723833-124723856	XLOC_010234
8	lnc-FAM101A-1	chr12:124692046-124692841	NONHSAT031653
9	lnc-ZNF664-1	chr12:124558542-124558567	XLOC_009925
10	lnc-FAM101A-1	chr12:124693377-124693564	ENSG00000256596
11	lnc-NCOR2-2	chr12:124726839-124727323	XLOC_010234
12	lnc-FAM101A-1	chr12:124702630-124702680	NONHSAT031653
13	lnc-ZNF664-2	chr12:124574591-124574717	XLOC_009926
14	lnc-ZNF664-2	chr12:124574594-124574626	XLOC_009926
15	lnc-FAM101A-2	chr12:124634145-124634337	XLOC_009927
16	lnc-ZNF664-2	chr12:124570308-124573142	ENSG00000269923.1
17	lnc-ZNF664-2	chr12:124575119-124575483	XLOC_009926
18	lnc-ZNF664-2	chr12:124575119-124575483	XLOC_009926
19	lnc-FAM101A-1	chr12:124692595-124692817	XLOC_009928
20	lnc-ZNF664-2	chr12:124572821-124573024	XLOC_009926
21	lnc-NCOR2-1	chr12:124742431-124742644	XLOC_010235
22	lnc-ZNF664-2	chr12:124575119-124575483	XLOC_009926
23	lnc-NCOR2-1	chr12:124749943-124749993	XLOC_010235
24	lnc-ZNF664-2	chr12:124599655-124599680	XLOC_009926
25	lnc-FAM101A-2	chr12:124724680-124724738	XLOC_009927
26	lnc-ZNF664-2	chr12:124631771-124631821	XLOC_009926
27	lnc-FAM101A-1	chr12:124690774-124692841	ENSG00000256596
28	lnc-ZNF664-2	chr12:124599655-124599680	XLOC_009926
29	lnc-FAM101A-1	chr12:124692046-124692841	NONHSAT031652
30	lnc-ZNF664-2	chr12:124575119-124576008	XLOC_009926
31	lnc-ZNF664-2	chr12:124574282-124574327	XLOC_009926
32	lnc-FAM101A-1	chr12:124692442-124692494	XLOC_009928
33	lnc-FAM101A-2	chr12:124634216-124634337	XLOC_009927
34	lnc-NCOR2-3	chr12:124691050-124691914	XLOC_010233
35	lnc-ZNF664-1	chr12:124559470-124559839	XLOC_009925
36	lnc-FAM101A-1	chr12:124695990-124696188	NONHSAT031652
37	lnc-ZNF664-2	chr12:124574282-124574327	XLOC_009926

No data

Variant related genes	Relation type
FAM101A	TF binding region
ENSG00000269923	TF binding region
ENSG00000256596	TF binding region
FAM101A	CpG island
ENSG00000269923	CpG island
ENSG00000256596	CpG island
ENSG00000178882	chromatin interactions
ENSG00000186615	chromatin interactions
ENSG00000126777	chromatin interactions
ENSG00000119242	chromatin interactions
ENSG00000179195	chromatin interactions
ENSG00000269923	chromatin interactions
NUDT12	miRNA target sites
TLN2	miRNA target sites
DCAF7	miRNA target sites
IP6K1	miRNA target sites
GMNN	miRNA target sites
NUFIP2	miRNA target sites
TM9SF3	miRNA target sites
CD46	miRNA target sites
RELA	miRNA target sites
TLX1	miRNA target sites
WHSC1L1	miRNA target sites
CNOT6	miRNA target sites

Extended variants
information (count: 10186 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:10186 , 50 per page) page: 1 2 3 4 5 6 7 ... 204

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7296124	chr12:124511908-124511909	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545019240	chr12:124512047-124512048	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs539015737	chr12:124512078-124512079	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs116433583	chr12:124512088-124512089	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs144878488	chr12:124512096-124512097	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs77452469	chr12:124512102-124512103	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs143058650	chr12:124512206-124512207	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs555721449	chr12:124512209-124512210	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs569587278	chr12:124512214-124512215	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs535732777	chr12:124512222-124512223	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs115889662	chr12:124512230-124512231	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs144233953	chr12:124512245-124512246	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs185149108	chr12:124512248-124512249	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs532111660	chr12:124512295-124512296	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs550896112	chr12:124512299-124512300	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs562806565	chr12:124512352-124512353	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs190391502	chr12:124512413-124512414	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs548325558	chr12:124512419-124512420	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs116216353	chr12:124512481-124512482	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs35525326	chr12:124512496-124512497	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs192122329	chr12:124512513-124512514	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs148231369	chr12:124512554-124512555	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs570794415	chr12:124512560-124512561	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs538209812	chr12:124512582-124512583	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs534529245	chr12:124512667-124512668	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs367676645	chr12:124512681-124512682	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs557318309	chr12:124512724-124512725	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs141746786	chr12:124512731-124512732	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs536460219	chr12:124512732-124512733	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs184526995	chr12:124512801-124512802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs145486683	chr12:124512807-124512808	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs539983635	chr12:124512812-124512813	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs564977198	chr12:124512820-124512821	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs554274775	chr12:124512845-124512846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs577436699	chr12:124512854-124512855	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs373823788	chr12:124512858-124512859	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs138116841	chr12:124512872-124512873	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs189409231	chr12:124512891-124512892	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs562845888	chr12:124512892-124512893	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs530287420	chr12:124512980-124512981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs548460070	chr12:124513007-124513008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs560567084	chr12:124513029-124513030	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs527862354	chr12:124513040-124513041	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs180718800	chr12:124513064-124513065	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs546353778	chr12:124513066-124513067	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs562861642	chr12:124513073-124513074	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs538248652	chr12:124513168-124513169	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs550160976	chr12:124513216-124513217	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs186215918	chr12:124513240-124513241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs536597259	chr12:124513254-124513255	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2764 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124498400-124514600	Weak transcription	Spleen	Spleen
2	chr12:124498400-124517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:124499600-124521400	Weak transcription	Brain Germinal Matrix	brain
4	chr12:124500400-124513800	Weak transcription	Fetal Kidney	kidney
5	chr12:124500800-124514600	Weak transcription	Fetal Brain Female	brain
6	chr12:124507000-124513000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:124508000-124513600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:124508200-124513400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:124508200-124515200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:124508400-124513400	Enhancers	Fetal Muscle Trunk	muscle
11	chr12:124508400-124513800	Enhancers	Placenta	Placenta
12	chr12:124508600-124512800	Enhancers	NHDF-Ad	bronchial
13	chr12:124509200-124513200	Enhancers	Fetal Muscle Leg	muscle
14	chr12:124509600-124512200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:124509600-124514400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:124509800-124513600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:124509800-124514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:124509800-124514600	Weak transcription	Adipose Nuclei	Adipose
19	chr12:124510200-124517400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:124510400-124512000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:124510600-124513200	Enhancers	Right Ventricle	heart
22	chr12:124510600-124518400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:124510600-124520600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:124510800-124512000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr12:124510800-124512200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:124510800-124512200	Enhancers	NH-A	brain
27	chr12:124510800-124512400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:124510800-124512400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:124510800-124515200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:124511000-124512000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:124511000-124512000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:124511000-124512000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:124511000-124512000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:124511000-124512000	Enhancers	HUVEC	blood vessel
35	chr12:124511000-124512000	Enhancers	NHEK	skin
36	chr12:124511000-124512400	Strong transcription	Fetal Intestine Small	intestine
37	chr12:124511000-124512600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:124511000-124512600	Flanking Active TSS	Fetal Heart	heart
39	chr12:124511000-124512600	Enhancers	Stomach Smooth Muscle	stomach
40	chr12:124511000-124513000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:124511000-124513200	Enhancers	Aorta	Aorta
42	chr12:124511000-124513200	Enhancers	Left Ventricle	heart
43	chr12:124511000-124513600	Enhancers	HSMM	muscle
44	chr12:124511200-124512600	Enhancers	K562	blood
45	chr12:124511200-124513200	Weak transcription	Brain Angular Gyrus	brain
46	chr12:124511400-124512000	Weak transcription	Fetal Brain Male	brain
47	chr12:124511400-124512400	Strong transcription	Fetal Stomach	stomach
48	chr12:124511400-124512600	Weak transcription	Thymus	Thymus
49	chr12:124511600-124512000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr12:124511600-124512000	Weak transcription	Right Atrium	heart

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