Variant report

Variant	rs72769971
Chromosome Location	chr10:5004295-5004296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr10:5004159-5004418	HepG2	liver:	n/a	n/a
2	MAFK	chr10:5004183-5004363	HepG2	liver:	n/a	n/a
3	CEBPB	chr10:5004266-5004434	A549	lung:	n/a	n/a
4	MAFF	chr10:5004262-5004334	HepG2	liver:	n/a	n/a
5	MAFK	chr10:5004169-5004363	IMR90	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:5004250-5004300	Hela-S3	cervix:	n/a
2	chr10:5004250-5004300	AG09319	gingival:	n/a
3	chr10:5004250-5004300	T-47D	breast:	n/a
4	chr10:5004250-5004300	Hepatocyte	liver:	n/a
5	chr10:5004250-5004300	HPAEpiC	pulmonary alveolar:	n/a
6	chr10:5004250-5004300	PrEC	prostate:	n/a
7	chr10:5004250-5004300	GM12878	blood:	n/a
8	chr10:5004250-5004300	HUVEC	blood vessel:	n/a
9	chr10:5004250-5004300	HL-60	blood:	n/a
10	chr10:5004250-5004300	PFSK-1	brain:	n/a
11	chr10:5004250-5004300	PANC-1	pancreas:	n/a
12	chr10:5004250-5004300	AoSMC	blood vessel:	n/a
13	chr10:5004250-5004300	SK-N-SH	brain:	n/a
14	chr10:5004250-5004300	BJ	skin:	n/a
15	chr10:5004250-5004300	RPTEC	kidney:	n/a
16	chr10:5004250-5004300	GM12891	blood:	n/a
17	chr10:5004250-5004300	MCF10A-Er-Src	breast:	n/a
18	chr10:5004250-5004300	NH-A	brain:	n/a
19	chr10:5004250-5004300	SAEC	small airway:	n/a
20	chr10:5004250-5004300	HAEpiC	amniotic membrane:	n/a
21	chr10:5004250-5004300	HRE	kidney:	n/a
22	chr10:5004250-5004300	HRPEpiC	eye:	n/a
23	chr10:5004250-5004300	ECC-1	luminal epithelium:	n/a
24	chr10:5004250-5004300	HCPEpiC	choroid plexus:	n/a
25	chr10:5004250-5004300	ProgFib	skin:	n/a
26	chr10:5004250-5004300	ovcar-3	ovarian:	n/a
27	chr10:5004250-5004300	U87	brain:	n/a
28	chr10:5004250-5004300	IMR90	lung:	fetal
29	chr10:5004250-5004300	HRCEpiC	kidney:	n/a
30	chr10:5004250-5004300	HCM	heart:	n/a
31	chr10:5004250-5004300	HCF	heart:	n/a
32	chr10:5004250-5004300	AG04449	skin:	fetal
33	chr10:5004250-5004300	HCT-116	colon:	n/a
34	chr10:5004250-5004300	SK-N-MC	brain:	n/a
35	chr10:5004250-5004300	HEK293	kidney:	embryo
36	chr10:5004250-5004300	NB4	blood:	n/a
37	chr10:5004250-5004300	LNCaP	prostate:	n/a
38	chr10:5004250-5004300	HEEpiC	esophagus:	n/a
39	chr10:5004250-5004300	NHBE	bronchial:	n/a
40	chr10:5004250-5004300	Jurkat	blood:	n/a
41	chr10:5004250-5004300	MCF-7	breast:	n/a
42	chr10:5004250-5004300	HIPEpiC	eye:	n/a
43	chr10:5004250-5004300	HMEC	breast:	n/a
44	chr10:5004250-5004300	SKMC	muscle:	n/a
45	chr10:5004250-5004300	AG09309	skin:	n/a
46	chr10:5004250-5004300	BE2_C	brain:	n/a
47	chr10:5004250-5004300	CMK	blood:	n/a
48	chr10:5004250-5004300	GM06990	blood:	n/a
49	chr10:5004250-5004300	HNPCEpiC	eye:	n/a
50	chr10:5004250-5004300	NHDF-neo	bronchial:	n/a

No data

Variant related genes	Relation type
AKR1C1	TF binding region
AKR1C1	CpG island

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11252853	1.00[ASN][1000 genomes]
rs11252862	0.81[ASN][1000 genomes]
rs12250633	0.81[ASN][1000 genomes]
rs12263706	0.92[ASN][1000 genomes]
rs12264439	0.86[ASN][1000 genomes]
rs12264914	1.00[ASN][1000 genomes]
rs34072915	0.81[EUR][1000 genomes]
rs35056421	0.81[EUR][1000 genomes]
rs3890593	0.85[ASN][1000 genomes]
rs3890643	0.85[ASN][1000 genomes]
rs3923936	0.85[ASN][1000 genomes]
rs3925947	1.00[ASN][1000 genomes]
rs41305661	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4445550	0.84[ASN][1000 genomes]
rs5011018	0.81[EUR][1000 genomes]
rs5011019	0.81[EUR][1000 genomes]
rs56136181	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs59428599	0.83[EUR][1000 genomes]
rs61856089	0.88[EUR][1000 genomes]
rs6601887	0.81[ASN][1000 genomes]
rs6601888	0.81[ASN][1000 genomes]
rs6650153	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs68057779	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7068923	0.81[ASN][1000 genomes]
rs7076886	1.00[ASN][1000 genomes]
rs7089378	0.85[ASN][1000 genomes]
rs71230207	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7893456	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907062	0.80[EUR][1000 genomes]
rs7908994	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909151	0.81[ASN][1000 genomes]
rs7916644	0.84[ASN][1000 genomes]
rs7922874	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv825221	chr10:4999349-5046239	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs72769971	AKR1C2	cis	Esophagus Muscularis	GTEx
rs72769971	AKR1C2	cis	Skin Sun Exposed Lower leg	GTEx
rs72769971	AKR1C1	cis	Whole Blood	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4973000-5005600	Weak transcription	Left Ventricle	heart
2	chr10:4994000-5004600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:4998200-5023800	Weak transcription	Gastric	stomach
4	chr10:5000400-5005000	Weak transcription	HepG2	liver
5	chr10:5001600-5004600	Weak transcription	A549	lung
6	chr10:5003800-5005200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:5004000-5004400	Enhancers	HMEC	breast
8	chr10:5004000-5004800	Enhancers	NHEK	skin
9	chr10:5004200-5008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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