Variant report

Variant	rs2974930
Chromosome Location	chr1:155196717-155196718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:338)
CpG islands
(count:0)
Chromatin interactive
region (count:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr1:155196597-155198055	A549	lung:	n/a	n/a
2	MAFK	chr1:155196253-155196869	K562	blood:	n/a	n/a
3	HA-E2F1	chr1:155196419-155197878	Hela-S3	cervix:	n/a	chr1:155197510-155197519 chr1:155197528-155197535 chr1:155197333-155197342 chr1:155197528-155197535 chr1:155197234-155197241 chr1:155197528-155197535 chr1:155197527-155197539
4	POLR2A	chr1:155196073-155198028	U87	brain:	n/a	n/a
5	TEAD4	chr1:155196085-155198008	K562	blood:	n/a	n/a
6	TBP	chr1:155196355-155198033	H1-hESC	embryonic stem cell:	n/a	n/a
7	ELK4	chr1:155196227-155198211	Hela-S3	cervix:	n/a	n/a
8	MAFK	chr1:155196222-155198060	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:155196242-155197046	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr1:155196281-155197954	ECC-1	luminal epithelium:	n/a	chr1:155197553-155197563 chr1:155197239-155197248
11	CTCF	chr1:155196392-155196780	IMR90	lung:	n/a	n/a
12	CTCF	chr1:155196358-155196767	K562	blood:	n/a	n/a
13	POLR2A	chr1:155196150-155198017	Hela-S3	cervix:	n/a	n/a
14	ZNF143	chr1:155196206-155197859	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr1:155196389-155196806	IMR90	lung:	n/a	n/a
16	CTCF	chr1:155196455-155196748	Spleen_OC	spleen:	n/a	n/a
17	MAZ	chr1:155196311-155197888	GM12878	blood:	n/a	chr1:155197553-155197563 chr1:155197239-155197248
18	CTCF	chr1:155196152-155197604	HCT-116	colon:	n/a	n/a
19	EP300	chr1:155196244-155198034	K562	blood:	n/a	chr1:155197209-155197218
20	BACH1	chr1:155196500-155196997	K562	blood:	n/a	n/a
21	MXI1	chr1:155196465-155197680	HepG2	liver:	n/a	n/a
22	CTCF	chr1:155196620-155196770	A549	lung:	n/a	n/a
23	GTF2B	chr1:155196402-155196759	K562	blood:	n/a	n/a
24	SP4	chr1:155196349-155198001	H1-hESC	embryonic stem cell:	n/a	chr1:155197335-155197351 chr1:155197548-155197559
25	TCF7L2	chr1:155196504-155197417	PANC-1	pancreas:	n/a	chr1:155196822-155196836 chr1:155196826-155196835 chr1:155197143-155197150
26	POLR2A	chr1:155196237-155197970	K562	blood:	n/a	n/a
27	RCOR1	chr1:155196210-155197929	K562	blood:	n/a	n/a
28	POLR2A	chr1:155196691-155198114	GM12891	blood:	n/a	n/a
29	MAX	chr1:155196225-155197953	GM12878	blood:	n/a	chr1:155197553-155197563 chr1:155197239-155197248
30	POLR2A	chr1:155196158-155198160	K562	blood:	n/a	n/a
31	POLR2A	chr1:155196266-155198116	GM12891	blood:	n/a	n/a
32	TCF7L2	chr1:155196561-155197073	MCF-7	breast:	n/a	chr1:155196822-155196836 chr1:155196826-155196835
33	POLR2A	chr1:155196268-155198077	PBDE	blood:	n/a	n/a
34	MYC	chr1:155196312-155197962	K562	blood:	n/a	chr1:155197553-155197563 chr1:155197239-155197248
35	RCOR1	chr1:155196255-155198036	GM12878	blood:	n/a	n/a
36	YY1	chr1:155196284-155197985	GM12878	blood:	n/a	n/a
37	TCF12	chr1:155196667-155197698	ECC-1	luminal epithelium:	n/a	n/a
38	REST	chr1:155196392-155198115	HL-60	blood:	n/a	n/a
39	POLR2A	chr1:155196175-155197851	HUVEC	blood vessel:	n/a	n/a
40	MAX	chr1:155196181-155198085	K562	blood:	n/a	chr1:155197553-155197563 chr1:155197239-155197248
41	REST	chr1:155196245-155198044	A549	lung:	n/a	n/a
42	SIN3AK20	chr1:155196683-155197803	SK-N-SH	brain:	n/a	n/a
43	CTCF	chr1:155196458-155196750	SK-N-SH_RA	brain:	n/a	n/a
44	POLR2A	chr1:155196267-155198141	Raji	blood:	n/a	n/a
45	ELF1	chr1:155196182-155198019	MCF-7	breast:	n/a	chr1:155197275-155197288 chr1:155197377-155197389
46	EP300	chr1:155196412-155196905	GM12878	blood:	n/a	n/a
47	CHD1	chr1:155196293-155198009	GM12878	blood:	n/a	chr1:155197234-155197241
48	TEAD4	chr1:155196674-155197467	K562	blood:	n/a	n/a
49	SMC3	chr1:155196442-155196785	HepG2	liver:	n/a	n/a
50	POLR2A	chr1:155196315-155197930	K562	blood:	n/a	n/a

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155143901..155153030-chr1:155191166..155199183,23	MCF-7	breast:
2	chr1:155196679..155197559-chr2:20850313..20851127,2	Hela-S3	cervix:
3	chr1:155187581..155189617-chr1:155195998..155199387,4	MCF-7	breast:
4	chr1:155098008..155101008-chr1:155194682..155198746,4	MCF-7	breast:
5	chr1:155176293..155177732-chr1:155196164..155197059,7	MCF-7	breast:
6	chr1:155187302..155192095-chr1:155195846..155198767,7	MCF-7	breast:
7	chr1:155165613..155168147-chr1:155195516..155197930,3	K562	blood:
8	chr1:155195759..155198427-chr1:155276824..155279493,2	K562	blood:
9	chr1:155022097..155024403-chr1:155195809..155198176,3	MCF-7	breast:
10	chr1:155171519..155180465-chr1:155194608..155199196,19	MCF-7	breast:
11	chr1:155196466..155197461-chr20:32254440..32254956,2	Hela-S3	cervix:
12	chr1:155194687..155197665-chr1:155223228..155225374,3	MCF-7	breast:
13	chr1:155169616..155173195-chr1:155194780..155198735,4	MCF-7	breast:
14	chr1:155186661..155189522-chr1:155194169..155197986,6	K562	blood:
15	chr1:155195600..155203152-chr1:155209955..155216515,9	MCF-7	breast:
16	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:
17	chr1:155178151..155179039-chr1:155196306..155197423,3	Hela-S3	cervix:
18	chr1:155157869..155162042-chr1:155196023..155198721,3	MCF-7	breast:
19	chr1:155176536..155177291-chr1:155196359..155196911,2	MCF-7	breast:
20	chr1:155193544..155197336-chr1:155293049..155296583,5	MCF-7	breast:
21	chr1:155160177..155166575-chr1:155191666..155199927,14	MCF-7	breast:
22	chr1:155196524..155199471-chr1:155205933..155208728,2	MCF-7	breast:
23	chr1:155196517..155197108-chr12:46384125..46384821,2	Hela-S3	cervix:
24	chr1:155177619..155178135-chr1:155196442..155197036,2	MCF-7	breast:
25	chr1:155146416..155150261-chr1:155194777..155198198,7	MCF-7	breast:
26	chr1:155195406..155199356-chr1:155210414..155216260,10	K562	blood:
27	chr1:70876951..70877911-chr1:155196685..155197597,2	Hela-S3	cervix:
28	chr1:155194530..155197215-chr1:155242223..155244850,3	K562	blood:
29	chr1:155195512..155198962-chr1:155200125..155202735,3	MCF-7	breast:
30	chr1:155191881..155194028-chr1:155195597..155197149,2	MCF-7	breast:
31	chr1:155148495..155149762-chr1:155196236..155196972,5	MCF-7	breast:
32	chr1:155143241..155145865-chr1:155194153..155197077,2	MCF-7	breast:
33	chr1:155149084..155150074-chr1:155196318..155196838,2	MCF-7	breast:
34	chr1:155054721..155059011-chr1:155196588..155199418,3	K562	blood:
35	chr1:155196696..155197276-chr13:99738346..99738910,2	Hela-S3	cervix:
36	chr1:155106515..155109128-chr1:155196131..155198130,2	K562	blood:
37	chr1:155195599..155199380-chr1:155211353..155216703,7	MCF-7	breast:
38	chr1:155195691..155197531-chr1:155658226..155660788,2	K562	blood:
39	chr1:155195750..155198407-chr1:155276763..155279696,2	K562	blood:
40	chr1:155196583..155198165-chr11:66405632..66407790,2	MCF-7	breast:
41	chr1:155174590..155181850-chr1:155192419..155201858,28	K562	blood:
42	chr1:155196643..155197439-chr16:89988732..89989242,2	Hela-S3	cervix:
43	chr1:155160390..155165295-chr1:155194589..155199400,14	K562	blood:
44	chr1:155192189..155193749-chr1:155195303..155196996,2	MCF-7	breast:
45	chr1:155176324..155177310-chr1:155196150..155197130,9	K562	blood:
46	chr1:155196402..155197362-chr16:89557375..89557938,2	Hela-S3	cervix:
47	chr1:155188805..155190957-chr1:155195706..155197646,3	K562	blood:
48	chr1:155162384..155165288-chr1:155195792..155197762,4	MCF-7	breast:
49	chr1:145381905..145382698-chr1:155196540..155197297,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MTX1P1	TF binding region
ENSG00000163463	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000132676	Chromatin interaction
ENSG00000216109	Chromatin interaction
ENSG00000116761	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000273088	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000197912	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000236675	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000125967	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000139218	Chromatin interaction
ENSG00000259006	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000088387	Chromatin interaction
ENSG00000231064	Chromatin interaction
ENSG00000163462	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000160752	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12407919	0.89[AFR][1000 genomes]
rs12411216	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12723761	0.85[AFR][1000 genomes]
rs2049805	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066981	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2075569	0.89[AFR][1000 genomes]
rs2075570	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28445596	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2974929	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2974931	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2974935	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2974937	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2990220	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2990245	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs370545	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3754485	0.89[AFR][1000 genomes]
rs3768566	0.87[AFR][1000 genomes]
rs4072037	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4971088	0.82[ASN][1000 genomes]
rs497829	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734074	0.84[AFR][1000 genomes]
rs760077	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs914615	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
4	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
5	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
6	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
7	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
8	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
9	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
10	nsv527682	chr1:155149718-155197462	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	361 gene(s)	inside rSNPs	diseases
11	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
12	esv2764209	chr1:155175657-155201064	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv547963	chr1:155178746-155206167	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
14	nsv870053	chr1:155180349-155212316	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
15	esv13606	chr1:155180489-155221243	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
16	esv3373583	chr1:155183155-155203622	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
17	esv3409536	chr1:155183691-155204364	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
18	nsv8469	chr1:155183945-155204572	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
19	esv3394856	chr1:155184707-155205412	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
20	esv3435735	chr1:155184757-155203179	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
21	esv3692913	chr1:155185951-155204010	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
22	nsv547964	chr1:155185951-155204010	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
23	esv2421617	chr1:155185951-155206167	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
24	nsv870387	chr1:155187481-155205523	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
25	nsv514011	chr1:155189136-155197120	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	68 gene(s)	inside rSNPs	diseases
26	nsv1008748	chr1:155189148-155230610	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
27	nsv1011773	chr1:155189148-155234821	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
28	nsv441717	chr1:155189160-155201060	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	72 gene(s)	inside rSNPs	diseases
29	esv1803666	chr1:155189160-155201064	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
30	esv1814530	chr1:155189160-155201064	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
31	esv2763713	chr1:155189160-155201064	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
32	esv3453089	chr1:155193228-155199226	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	72 gene(s)	inside rSNPs	diseases
33	esv3453090	chr1:155193228-155199226	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	72 gene(s)	inside rSNPs	diseases
34	esv1793876	chr1:155194112-155212255	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
35	nsv516159	chr1:155194980-155197462	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	71 gene(s)	inside rSNPs	diseases
36	esv3397308	chr1:155195828-155200126	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2974930	GBAP1	cis	Heart Left Ventricle	GTEx
rs2974930	RP11-263K19.4	cis	Whole Blood	GTEx
rs2974930	GBAP1	cis	Adipose Subcutaneous	GTEx
rs2974930	GBAP1	cis	Thyroid	GTEx
rs2974930	GBAP1	cis	Esophagus Muscularis	GTEx
rs2974930	GBAP1	cis	Esophagus Mucosa	GTEx
rs2974930	GBAP1	cis	Artery Tibial	GTEx
rs2974930	GBA///GBAP	Cis_1M	lymphoblastoid	RTeQTL
rs2974930	THBS3	cis	Whole Blood	GTEx
rs2974930	GNAI2	trans	lymphoblastoid	RTeQTL
rs2974930	GBAP1	cis	lung	GTEx
rs2974930	GBA	cis	Esophagus Mucosa	GTEx
rs2974930	GBAP1	cis	Artery Aorta	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155193800-155198200	Enhancers	Spleen	Spleen
2	chr1:155195400-155197000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr1:155195400-155197000	Flanking Active TSS	Hela-S3	cervix
4	chr1:155195400-155197800	ZNF genes & repeats	Right Atrium	heart
5	chr1:155195600-155196800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:155195600-155197000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:155195600-155197800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:155195800-155197200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr1:155195800-155197800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:155196000-155196800	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr1:155196000-155197000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:155196000-155197000	Flanking Active TSS	NHEK	skin
13	chr1:155196000-155197000	Flanking Active TSS	Osteobl	bone
14	chr1:155196000-155197200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr1:155196000-155197200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:155196000-155197600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:155196000-155197600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:155196000-155197600	Active TSS	GM12878-XiMat	blood
19	chr1:155196000-155197800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:155196200-155196800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:155196200-155196800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr1:155196200-155196800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:155196200-155196800	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr1:155196200-155196800	Flanking Active TSS	Fetal Thymus	thymus
25	chr1:155196200-155196800	Flanking Active TSS	HepG2	liver
26	chr1:155196200-155197000	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr1:155196200-155197000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:155196200-155197000	Flanking Active TSS	Liver	Liver
29	chr1:155196200-155197000	Flanking Active TSS	Colonic Mucosa	Colon
30	chr1:155196200-155197000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr1:155196200-155197000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr1:155196200-155197000	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr1:155196200-155197000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:155196200-155197000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr1:155196200-155197000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr1:155196200-155197000	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr1:155196200-155197000	Flanking Active TSS	Thymus	Thymus
38	chr1:155196200-155197600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:155196200-155197600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:155196200-155197800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr1:155196200-155197800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:155196200-155197800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr1:155196200-155198000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:155196200-155198000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr1:155196200-155198000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr1:155196200-155198000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr1:155196200-155198200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:155196400-155196800	Flanking Active TSS	Left Ventricle	heart
49	chr1:155196400-155197000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr1:155196400-155197000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links