Variant report

Variant	nsv1039216
Chromosome Location	chr12:121421701-121538491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3283)
CpG islands
(count:2016)
Chromatin interactive
region (count:121)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3283 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:121455416-121455815	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:121454126-121454492	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:121432640-121432909	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:121443210-121443412	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:121523699-121523880	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:121497991-121498204	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:121463440-121464449	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:121443216-121443451	K562	blood:	n/a	n/a
9	ATF1	chr12:121454106-121454550	K562	blood:	n/a	n/a
10	ATF1	chr12:121529137-121529138	K562	blood:	n/a	n/a
11	ATF1	chr12:121456015-121456311	K562	blood:	n/a	n/a
12	ATF1	chr12:121480947-121481240	K562	blood:	n/a	n/a
13	ATF2	chr12:121454087-121454511	GM12878	blood:	n/a	n/a
14	ATF2	chr12:121533611-121534068	GM12878	blood:	n/a	n/a
15	ATF2	chr12:121454054-121454531	GM12878	blood:	n/a	n/a
16	ATF2	chr12:121476753-121477249	GM12878	blood:	n/a	n/a
17	ATF2	chr12:121454059-121454576	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF3	chr12:121523628-121523846	HepG2	liver:	n/a	n/a
19	ATF3	chr12:121454074-121454461	H1-hESC	embryonic stem cell:	n/a	chr12:121454331-121454339 chr12:121454330-121454343 chr12:121454330-121454341 chr12:121454332-121454339 chr12:121454329-121454339 chr12:121454336-121454345 chr12:121454332-121454342 chr12:121454330-121454341 chr12:121454328-121454343 chr12:121454332-121454340
20	ATF3	chr12:121454171-121454453	K562	blood:	n/a	chr12:121454331-121454339 chr12:121454330-121454343 chr12:121454330-121454341 chr12:121454332-121454339 chr12:121454329-121454339 chr12:121454336-121454345 chr12:121454332-121454342 chr12:121454330-121454341 chr12:121454328-121454343 chr12:121454332-121454340
21	ATF3	chr12:121488586-121488835	GM12878	blood:	n/a	n/a
22	ATF3	chr12:121484435-121484678	K562	blood:	n/a	n/a
23	BACH1	chr12:121533616-121534030	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr12:121533719-121533919	K562	blood:	n/a	n/a
25	BATF	chr12:121537496-121537848	GM12878	blood:	n/a	n/a
26	BATF	chr12:121533751-121534150	GM12878	blood:	n/a	n/a
27	BCL11A	chr12:121537441-121537694	GM12878	blood:	n/a	n/a
28	BCL11A	chr12:121533546-121533936	GM12878	blood:	n/a	n/a
29	BCL11A	chr12:121537435-121537840	GM12878	blood:	n/a	n/a
30	BCL3	chr12:121533635-121534282	A549	lung:	n/a	chr12:121534235-121534244 chr12:121534236-121534245
31	BCL3	chr12:121436417-121436765	A549	lung:	n/a	n/a
32	BCL3	chr12:121471028-121471342	GM12878	blood:	n/a	n/a
33	BCL3	chr12:121443023-121443599	A549	lung:	n/a	n/a
34	BCL3	chr12:121470923-121471217	GM12878	blood:	n/a	n/a
35	BCLAF1	chr12:121498339-121498687	GM12878	blood:	n/a	n/a
36	BCLAF1	chr12:121454043-121454481	GM12878	blood:	n/a	n/a
37	BCLAF1	chr12:121454020-121454569	GM12878	blood:	n/a	n/a
38	BHLHE40	chr12:121504289-121504582	HepG2	liver:	n/a	n/a
39	BHLHE40	chr12:121447724-121447801	K562	blood:	n/a	n/a
40	BHLHE40	chr12:121533284-121534087	GM12878	blood:	n/a	chr12:121533663-121533679 chr12:121533363-121533372 chr12:121533362-121533371 chr12:121533362-121533371 chr12:121533361-121533370 chr12:121533356-121533377
41	BHLHE40	chr12:121461657-121461913	HepG2	liver:	n/a	n/a
42	BHLHE40	chr12:121533271-121534064	K562	blood:	n/a	chr12:121533663-121533679 chr12:121533363-121533372 chr12:121533362-121533371 chr12:121533362-121533371 chr12:121533361-121533370 chr12:121533356-121533377
43	BHLHE40	chr12:121463523-121463948	HepG2	liver:	n/a	n/a
44	BHLHE40	chr12:121454016-121454506	GM12878	blood:	n/a	chr12:121454335-121454344 chr12:121454336-121454345 chr12:121454334-121454347 chr12:121454336-121454345
45	BHLHE40	chr12:121453947-121454548	HepG2	liver:	n/a	chr12:121454335-121454344 chr12:121454336-121454345 chr12:121454334-121454347 chr12:121454336-121454345
46	BHLHE40	chr12:121453994-121454544	K562	blood:	n/a	chr12:121454335-121454344 chr12:121454336-121454345 chr12:121454334-121454347 chr12:121454336-121454345
47	BHLHE40	chr12:121527341-121527502	K562	blood:	n/a	n/a
48	BHLHE40	chr12:121463615-121464386	HepG2	liver:	n/a	n/a
49	BHLHE40	chr12:121533301-121533503	HepG2	liver:	n/a	chr12:121533363-121533372 chr12:121533362-121533371 chr12:121533362-121533371 chr12:121533361-121533370 chr12:121533356-121533377
50	BHLHE40	chr12:121456038-121456273	K562	blood:	n/a	n/a

(count:2016 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121437256-121437306	HRCEpiC	kidney:	n/a
2	chr12:121476596-121476646	PANC-1	pancreas:	n/a
3	chr12:121441714-121441764	PANC-1	pancreas:	n/a
4	chr12:121437256-121437306	HRCEpiC	kidney:	n/a
5	chr12:121476596-121476646	PANC-1	pancreas:	n/a
6	chr12:121441714-121441764	PANC-1	pancreas:	n/a
7	chr12:121533801-121533851	AoSMC	blood vessel:	n/a
8	chr12:121533801-121533851	A549	lung:	n/a
9	chr12:121476792-121476842	PrEC	prostate:	n/a
10	chr12:121477061-121477111	PANC-1	pancreas:	n/a
11	chr12:121498343-121498393	H1-hESC	embryonic stem cell:	embryo
12	chr12:121454288-121454338	GM12878	blood:	n/a
13	chr12:121498343-121498393	AG04450	lung:	fetal
14	chr12:121498343-121498393	GM06990	blood:	n/a
15	chr12:121443309-121443359	SKMC	muscle:	n/a
16	chr12:121530737-121530787	HRPEpiC	eye:	n/a
17	chr12:121477093-121477143	AG09319	gingival:	n/a
18	chr12:121533475-121533525	AG10803	skin:	n/a
19	chr12:121455706-121455756	RPTEC	kidney:	n/a
20	chr12:121454272-121454322	NHDF-neo	bronchial:	n/a
21	chr12:121441714-121441764	HRE	kidney:	n/a
22	chr12:121477061-121477111	SK-N-SH	brain:	n/a
23	chr12:121437256-121437306	LNCaP	prostate:	n/a
24	chr12:121476720-121476770	HRCEpiC	kidney:	n/a
25	chr12:121454162-121454212	HCM	heart:	n/a
26	chr12:121427010-121427060	HRPEpiC	eye:	n/a
27	chr12:121513978-121514028	HCF	heart:	n/a
28	chr12:121476596-121476646	NB4	blood:	n/a
29	chr12:121476792-121476842	GM12891	blood:	n/a
30	chr12:121454356-121454406	H1-hESC	embryonic stem cell:	embryo
31	chr12:121533801-121533851	PFSK-1	brain:	n/a
32	chr12:121477854-121477904	HNPCEpiC	eye:	n/a
33	chr12:121476720-121476770	HCPEpiC	choroid plexus:	n/a
34	chr12:121454335-121454385	PANC-1	pancreas:	n/a
35	chr12:121450381-121450431	HPAEpiC	pulmonary alveolar:	n/a
36	chr12:121443309-121443359	HNPCEpiC	eye:	n/a
37	chr12:121477093-121477143	NH-A	brain:	n/a
38	chr12:121450381-121450431	ProgFib	skin:	n/a
39	chr12:121477093-121477143	HCM	heart:	n/a
40	chr12:121477061-121477111	HIPEpiC	eye:	n/a
41	chr12:121533801-121533851	AG04449	skin:	fetal
42	chr12:121476549-121476599	IMR90	lung:	fetal
43	chr12:121427430-121427480	HEEpiC	esophagus:	n/a
44	chr12:121455706-121455756	GM12892	blood:	n/a
45	chr12:121477061-121477111	SK-N-SH_RA	brain:	n/a
46	chr12:121477061-121477111	AG09319	gingival:	n/a
47	chr12:121454837-121454887	SK-N-MC	brain:	n/a
48	chr12:121440271-121440321	BE2_C	brain:	n/a
49	chr12:121533475-121533525	AG09319	gingival:	n/a
50	chr12:121441714-121441764	NHDF-neo	bronchial:	n/a

(count:121 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:121522589..121524911-chr12:121528205..121530297,3	K562	blood:
2	chr12:121473524..121476101-chr12:121524769..121527497,2	K562	blood:
3	chr12:121531941..121534103-chr12:121555507..121557731,2	K562	blood:
4	chr12:121488470..121488989-chr3:111085239..111085759,2	MCF-7	breast:
5	chr12:121471397..121473334-chr12:121474789..121478157,3	MCF-7	breast:
6	chr12:121445828..121451054-chr12:121451445..121454709,11	K562	blood:
7	chr12:121446939..121449086-chr12:121451348..121453290,2	MCF-7	breast:
8	chr12:121499402..121500015-chr12:121931705..121932231,2	MCF-7	breast:
9	chr12:121490675..121493658-chr12:121495456..121497011,2	K562	blood:
10	chr12:121472155..121474661-chr12:121478426..121481122,2	K562	blood:
11	chr12:121488415..121490899-chr12:121492548..121494191,2	K562	blood:
12	chr12:121495209..121497796-chr12:121499977..121502641,3	K562	blood:
13	chr12:121498058..121498974-chr12:121533466..121534380,2	K562	blood:
14	chr12:121447247..121448275-chr12:121533293..121534356,3	MCF-7	breast:
15	chr12:121442771..121443720-chr12:121533793..121534340,2	K562	blood:
16	chr12:121483901..121486142-chr12:121487218..121490045,2	K562	blood:
17	chr12:121525545..121528351-chr12:121648009..121649745,2	MCF-7	breast:
18	chr12:121499386..121500506-chr12:121533456..121534392,4	K562	blood:
19	chr12:121419295..121421296-chr12:121428164..121430442,2	MCF-7	breast:
20	chr12:121429573..121435133-chr12:121436242..121441204,7	K562	blood:
21	chr12:121502918..121505798-chr12:121509128..121510948,2	K562	blood:
22	chr12:121442771..121443720-chr12:121533793..121534340,2	K562	blood:
23	chr12:121437912..121440467-chr12:121441258..121443495,3	MCF-7	breast:
24	chr12:121442844..121443785-chr12:121547734..121548804,3	K562	blood:
25	chr12:121501042..121502570-chr12:121660337..121662789,2	MCF-7	breast:
26	chr12:121523299..121524824-chr12:121646920..121648679,2	MCF-7	breast:
27	chr12:121447247..121448275-chr12:121533293..121534356,3	MCF-7	breast:
28	chr12:121483901..121486142-chr12:121487218..121490045,2	K562	blood:
29	chr12:121522589..121524911-chr12:121528205..121530297,3	K562	blood:
30	chr12:121124381..121127314-chr12:121441274..121443258,2	K562	blood:
31	chr12:121462116..121464172-chr12:121497468..121500006,2	MCF-7	breast:
32	chr12:121498058..121498974-chr12:121533466..121534380,2	K562	blood:
33	chr12:121445828..121450860-chr12:121451549..121454387,9	K562	blood:
34	chr12:121498251..121499029-chr12:121533532..121534500,2	MCF-7	breast:
35	chr12:121429573..121432216-chr12:121437752..121440846,3	K562	blood:
36	chr12:121197854..121198510-chr12:121441406..121442179,2	MCF-7	breast:
37	chr12:120729256..120731429-chr12:121471533..121473045,2	MCF-7	breast:
38	chr12:121498418..121499035-chr12:121547998..121548758,2	K562	blood:
39	chr12:121382478..121383151-chr12:121441198..121441773,2	MCF-7	breast:
40	chr12:121444400..121446365-chr12:121447661..121449624,2	K562	blood:
41	chr12:121443137..121444963-chr12:121449625..121451218,2	K562	blood:
42	chr12:121452643..121457408-chr12:121461392..121466070,6	MCF-7	breast:
43	chr12:121417392..121420035-chr12:121422545..121425552,3	K562	blood:
44	chr12:121291153..121292656-chr12:121442284..121444744,2	MCF-7	breast:
45	chr12:121426408..121429065-chr12:121429959..121431966,2	MCF-7	breast:
46	chr12:121533067..121535799-chr12:121628437..121630049,2	K562	blood:
47	chr12:121533631..121534218-chr12:121667773..121668734,2	K562	blood:
48	chr12:121463705..121464632-chr12:121497652..121498532,2	MCF-7	breast:
49	chr12:121447431..121451051-chr12:121452490..121455717,3	MCF-7	breast:
50	chr12:121442812..121445650-chr12:121451524..121454471,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-P2RX7-6	chr12:121517645-121517927	NONHSAT031263
2	lnc-C12orf43-3	chr12:121438289-121439071	ENSG00000271769.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HNF1A	hsa-miR-320a	chr12:121439680-121439702

Variant related genes	Relation type
ENSG00000271769	TF binding region
HNF1A-AS1	TF binding region
C12orf43	TF binding region
OASL	TF binding region
HNF1A	TF binding region
ENSG00000256963	TF binding region
ENSG00000271769	CpG island
HNF1A-AS1	CpG island
C12orf43	CpG island
OASL	CpG island
HNF1A	CpG island
ENSG00000256963	CpG island
ENSG00000202538	chromatin interactions
ENSG00000135124	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000135097	chromatin interactions
ENSG00000135100	chromatin interactions
ENSG00000135114	chromatin interactions
ENSG00000110917	chromatin interactions
ENSG00000271769	chromatin interactions
ENSG00000175970	chromatin interactions
ENSG00000256963	chromatin interactions
ENSG00000157895	chromatin interactions
ENSG00000241388	chromatin interactions
ENSG00000167272	chromatin interactions

Extended variants
information (count: 4793 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:4793 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79421769	chr12:121421711-121421712	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs151308661	chr12:121421720-121421721	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs71076694	chr12:121421739-121421740	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs12820868	chr12:121421745-121421746	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs61680384	chr12:121421747-121421748	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs112683337	chr12:121421749-121421750	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs56338049	chr12:121421752-121421753	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs11065383	chr12:121421753-121421754	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs144925246	chr12:121421781-121421782	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190809850	chr12:121421806-121421807	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs142607940	chr12:121421811-121421812	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs146787212	chr12:121421830-121421831	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540709887	chr12:121421859-121421860	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533157974	chr12:121421955-121421956	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560947239	chr12:121421988-121421989	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs56156770	chr12:121421992-121421993	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs182121541	chr12:121422048-121422049	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563160574	chr12:121422082-121422083	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs187088722	chr12:121422085-121422086	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545615610	chr12:121422128-121422129	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs3051669	chr12:121422134-121422135	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs56121652	chr12:121422144-121422145	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs78539250	chr12:121422146-121422147	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs554495441	chr12:121422148-121422149	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs55708191	chr12:121422150-121422151	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs76221897	chr12:121422151-121422152	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs79299660	chr12:121422152-121422153	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs142229890	chr12:121422165-121422166	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs77214843	chr12:121422166-121422167	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs10849827	chr12:121422170-121422171	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs61946403	chr12:121422173-121422174	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548638338	chr12:121422202-121422203	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs527796613	chr12:121422213-121422214	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547529681	chr12:121422217-121422218	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs567675503	chr12:121422234-121422235	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs55660034	chr12:121422243-121422244	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs55911634	chr12:121422272-121422273	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577452979	chr12:121422295-121422296	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs569590155	chr12:121422384-121422385	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs386767007	chr12:121422449-121422450	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546442868	chr12:121422450-121422451	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs58367757	chr12:121422451-121422452	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs199752420	chr12:121422465-121422466	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs189012198	chr12:121422542-121422543	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs558319918	chr12:121422558-121422559	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs527758331	chr12:121422565-121422566	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs547888529	chr12:121422570-121422571	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs570917094	chr12:121422583-121422584	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs181496574	chr12:121422584-121422585	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs534718463	chr12:121422662-121422663	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Autism	22495311	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
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2484 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121409600-121422200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:121418200-121421800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:121418600-121422000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:121418600-121422200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:121418600-121441000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:121418800-121422200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:121418800-121422200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:121418800-121422200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:121418800-121431800	Weak transcription	Fetal Stomach	stomach
10	chr12:121418800-121439400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:121419000-121422000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:121419200-121431600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:121419400-121421800	Enhancers	Liver	Liver
14	chr12:121419400-121422200	Weak transcription	Fetal Lung	lung
15	chr12:121419400-121422200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr12:121419400-121423400	Enhancers	Stomach Mucosa	stomach
17	chr12:121419600-121421800	Weak transcription	Fetal Kidney	kidney
18	chr12:121419600-121422000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:121419600-121424200	Genic enhancers	Fetal Intestine Small	intestine
20	chr12:121419600-121441000	Weak transcription	Small Intestine	intestine
21	chr12:121419800-121422000	Weak transcription	Colonic Mucosa	Colon
22	chr12:121419800-121429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:121420000-121421800	Enhancers	A549	lung
24	chr12:121421000-121421800	Enhancers	HepG2	liver
25	chr12:121421000-121422600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:121421200-121422400	Enhancers	Duodenum Mucosa	Duodenum
27	chr12:121421200-121426000	Weak transcription	Gastric	stomach
28	chr12:121421200-121426400	Weak transcription	Pancreas	Pancrea
29	chr12:121421600-121422000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr12:121421600-121422600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:121421600-121422600	Enhancers	Fetal Intestine Large	intestine
32	chr12:121421800-121422200	Enhancers	Fetal Kidney	kidney
33	chr12:121421800-121422400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:121421800-121422600	Flanking Active TSS	Liver	Liver
35	chr12:121421800-121422600	Flanking Active TSS	A549	lung
36	chr12:121421800-121422600	Flanking Active TSS	HepG2	liver
37	chr12:121422000-121422400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr12:121422000-121422400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr12:121422000-121422400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:121422000-121422400	Enhancers	GM12878-XiMat	blood
41	chr12:121422000-121422600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr12:121422000-121422600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:121422000-121422600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:121422000-121422800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:121422000-121423000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:121422000-121423400	Enhancers	Colonic Mucosa	Colon
47	chr12:121422200-121422400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:121422200-121422400	Enhancers	Fetal Lung	lung
49	chr12:121422200-121422400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr12:121422200-121422600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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