Variant report

Variant	rs73180604
Chromosome Location	chr12:74431440-74431441
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr12:74431367-74431583	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:74431418-74431468	HUVEC	blood vessel:	n/a
2	chr12:74431418-74431468	Jurkat	blood:	n/a
3	chr12:74431418-74431468	MCF-7	breast:	n/a
4	chr12:74431418-74431468	BE2_C	brain:	n/a
5	chr12:74431418-74431468	GM12892	blood:	n/a
6	chr12:74431418-74431468	HIPEpiC	eye:	n/a
7	chr12:74431418-74431468	GM06990	blood:	n/a
8	chr12:74431418-74431468	SAEC	small airway:	n/a
9	chr12:74431418-74431468	IMR90	lung:	fetal
10	chr12:74431418-74431468	Hepatocyte	liver:	n/a
11	chr12:74431418-74431468	ECC-1	luminal epithelium:	n/a
12	chr12:74431418-74431468	HAEpiC	amniotic membrane:	n/a
13	chr12:74431418-74431468	K562	blood:	n/a
14	chr12:74431418-74431468	ovcar-3	ovarian:	n/a
15	chr12:74431418-74431468	AG04450	lung:	fetal
16	chr12:74431418-74431468	HCT-116	colon:	n/a
17	chr12:74431418-74431468	NHBE	bronchial:	n/a
18	chr12:74431418-74431468	HCPEpiC	choroid plexus:	n/a
19	chr12:74431418-74431468	SK-N-SH_RA	brain:	n/a
20	chr12:74431418-74431468	SK-N-MC	brain:	n/a
21	chr12:74431418-74431468	H1-hESC	embryonic stem cell:	embryo
22	chr12:74431418-74431468	SKMC	muscle:	n/a
23	chr12:74431418-74431468	ProgFib	skin:	n/a
24	chr12:74431418-74431468	AoSMC	blood vessel:	n/a
25	chr12:74431418-74431468	A549	lung:	n/a
26	chr12:74431418-74431468	HEK293	kidney:	embryo
27	chr12:74431418-74431468	HRE	kidney:	n/a
28	chr12:74431418-74431468	HCM	heart:	n/a
29	chr12:74431418-74431468	AG09309	skin:	n/a
30	chr12:74431418-74431468	AG09319	gingival:	n/a
31	chr12:74431418-74431468	HRCEpiC	kidney:	n/a
32	chr12:74431418-74431468	Hela-S3	cervix:	n/a
33	chr12:74431418-74431468	HCF	heart:	n/a
34	chr12:74431418-74431468	SK-N-SH	brain:	n/a
35	chr12:74431418-74431468	GM19239	blood:	n/a
36	chr12:74431418-74431468	HNPCEpiC	eye:	n/a
37	chr12:74431418-74431468	HMEC	breast:	n/a
38	chr12:74431418-74431468	PFSK-1	brain:	n/a
39	chr12:74431418-74431468	NT2-D1	testis:	n/a
40	chr12:74431418-74431468	PANC-1	pancreas:	n/a
41	chr12:74431418-74431468	NHDF-neo	bronchial:	n/a
42	chr12:74431418-74431468	HEEpiC	esophagus:	n/a
43	chr12:74431418-74431468	MCF10A-Er-Src	breast:	n/a
44	chr12:74431418-74431468	HRPEpiC	eye:	n/a
45	chr12:74431418-74431468	NB4	blood:	n/a
46	chr12:74431418-74431468	T-47D	breast:	n/a
47	chr12:74431418-74431468	GM12891	blood:	n/a
48	chr12:74431418-74431468	NH-A	brain:	n/a
49	chr12:74431418-74431468	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:74431418-74431468	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
ENSG00000258332	TF binding region
ENSG00000258332	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11179876	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11179877	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179887	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11179934	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11179935	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11179936	0.94[EUR][1000 genomes]
rs11179937	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11179939	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11179952	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11179956	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11179959	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11519906	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11519908	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12367080	0.87[EUR][1000 genomes]
rs12368899	0.86[EUR][1000 genomes]
rs12369664	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12370683	0.89[EUR][1000 genomes]
rs12371812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371937	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365430	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2886202	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56051388	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73178707	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037030	chr12:73898311-74656764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv541537	chr12:73898311-74656764	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv2755812	chr12:74110833-74557833	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv899282	chr12:74315252-74505531	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv469469	chr12:74355828-74505531	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv559391	chr12:74355828-74505531	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv899283	chr12:74360978-74609860	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74431400-74432000	Enhancers	K562	blood

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