Variant report

Variant	rs11168532
Chromosome Location	chr12:48719734-48719735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr12:48719246-48719823	A549	lung:	n/a	n/a
2	SETDB1	chr12:48719512-48719966	U2OS	brain:	n/a	n/a
3	FOXA2	chr12:48719364-48719765	A549	lung:	n/a	n/a
4	FOXA1	chr12:48719385-48719769	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48719697-48719747	AoSMC	blood vessel:	n/a
2	chr12:48719697-48719747	HCPEpiC	choroid plexus:	n/a
3	chr12:48719697-48719747	Hela-S3	cervix:	n/a
4	chr12:48719697-48719747	AG09319	gingival:	n/a
5	chr12:48719697-48719747	HAEpiC	amniotic membrane:	n/a
6	chr12:48719697-48719747	GM19239	blood:	n/a
7	chr12:48719697-48719747	NHBE	bronchial:	n/a
8	chr12:48719697-48719747	IMR90	lung:	fetal
9	chr12:48719697-48719747	MCF10A-Er-Src	breast:	n/a
10	chr12:48719697-48719747	HCT-116	colon:	n/a
11	chr12:48719697-48719747	SK-N-SH_RA	brain:	n/a
12	chr12:48719697-48719747	U87	brain:	n/a
13	chr12:48719697-48719747	GM12878	blood:	n/a
14	chr12:48719697-48719747	HL-60	blood:	n/a
15	chr12:48719697-48719747	NHDF-neo	bronchial:	n/a
16	chr12:48719697-48719747	ProgFib	skin:	n/a
17	chr12:48719697-48719747	RPTEC	kidney:	n/a
18	chr12:48719697-48719747	PFSK-1	brain:	n/a
19	chr12:48719697-48719747	Jurkat	blood:	n/a
20	chr12:48719697-48719747	HUVEC	blood vessel:	n/a
21	chr12:48719697-48719747	HCF	heart:	n/a
22	chr12:48719697-48719747	SK-N-MC	brain:	n/a
23	chr12:48719697-48719747	GM06990	blood:	n/a
24	chr12:48719697-48719747	BE2_C	brain:	n/a
25	chr12:48719697-48719747	AG09309	skin:	n/a
26	chr12:48719697-48719747	HRPEpiC	eye:	n/a
27	chr12:48719697-48719747	PANC-1	pancreas:	n/a
28	chr12:48719697-48719747	NB4	blood:	n/a
29	chr12:48719697-48719747	Caco-2	colon:	n/a
30	chr12:48719697-48719747	MCF-7	breast:	n/a
31	chr12:48719697-48719747	SK-N-SH	brain:	n/a
32	chr12:48719697-48719747	HEK293	kidney:	embryo
33	chr12:48719697-48719747	HepG2	liver:	n/a
34	chr12:48719697-48719747	ECC-1	luminal epithelium:	n/a
35	chr12:48719697-48719747	HIPEpiC	eye:	n/a
36	chr12:48719697-48719747	A549	lung:	n/a
37	chr12:48719697-48719747	LNCaP	prostate:	n/a
38	chr12:48719697-48719747	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:48719697-48719747	HRE	kidney:	n/a
40	chr12:48719697-48719747	CMK	blood:	n/a
41	chr12:48719697-48719747	AG04450	lung:	fetal
42	chr12:48719697-48719747	HCM	heart:	n/a
43	chr12:48719697-48719747	K562	blood:	n/a
44	chr12:48719697-48719747	BJ	skin:	n/a
45	chr12:48719697-48719747	SAEC	small airway:	n/a
46	chr12:48719697-48719747	SKMC	muscle:	n/a
47	chr12:48719697-48719747	HMEC	breast:	n/a
48	chr12:48719697-48719747	H1-hESC	embryonic stem cell:	embryo
49	chr12:48719697-48719747	NT2-D1	testis:	n/a
50	chr12:48719697-48719747	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48718530..48720177-chr12:48742678..48744445,2	MCF-7	breast:

No data

Variant related genes	Relation type
H1FNT	TF binding region
H1FNT	CpG island
ENSG00000167528	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1074175	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10747532	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783235	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10783240	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783241	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783248	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875780	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10875781	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10875794	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875795	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10875796	0.92[ASN][1000 genomes]
rs10875797	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875798	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11168458	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11168470	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168471	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168472	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168473	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168475	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168485	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168494	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168513	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11168515	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168535	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168541	0.84[ASN][1000 genomes]
rs12422306	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12423404	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12423529	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12810029	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12815219	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12822431	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12824405	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12824591	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12827175	0.82[AMR][1000 genomes]
rs12831063	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1387261	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1844261	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2220459	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2261608	0.95[ASN][1000 genomes]
rs2291483	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409002	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2634683	0.87[ASN][1000 genomes]
rs2732467	0.86[ASN][1000 genomes]
rs34157519	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34417262	0.84[ASN][1000 genomes]
rs35139757	0.81[ASN][1000 genomes]
rs35267282	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752820	0.91[ASN][1000 genomes]
rs6580661	0.80[ASN][1000 genomes]
rs7136959	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs716176	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73116262	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7974811	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs923398	0.95[ASN][1000 genomes]
rs9669444	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv899064	chr12:48664989-48721832	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv826362	chr12:48693048-48768853	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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