Variant report

Variant	rs36032941
Chromosome Location	chr10:5062752-5062753
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr10:5062468-5062753	K562	blood:	n/a	n/a
2	MAX	chr10:5062238-5062752	A549	lung:	n/a	n/a
3	JUND	chr10:5062532-5062784	HepG2	liver:	n/a	chr10:5062616-5062627 chr10:5062614-5062624 chr10:5062615-5062623 chr10:5062613-5062625
4	TCF12	chr10:5062420-5062767	ECC-1	luminal epithelium:	n/a	chr10:5062456-5062465
5	MAFF	chr10:5062475-5062764	HepG2	liver:	n/a	chr10:5062606-5062624
6	EP300	chr10:5062221-5062977	ECC-1	luminal epithelium:	n/a	chr10:5062456-5062466
7	GATA1	chr10:5062234-5062960	PBDE	blood:	n/a	chr10:5062616-5062625
8	BACH1	chr10:5062492-5062763	H1-hESC	embryonic stem cell:	n/a	n/a
9	EP300	chr10:5062340-5062763	K562	blood:	n/a	chr10:5062456-5062466
10	MAX	chr10:5062196-5062911	A549	lung:	n/a	n/a
11	EP300	chr10:5062387-5062841	Hela-S3	cervix:	n/a	chr10:5062456-5062466
12	MAFK	chr10:5062441-5062766	K562	blood:	n/a	chr10:5062608-5062623 chr10:5062607-5062621 chr10:5062608-5062624 chr10:5062608-5062619 chr10:5062609-5062620 chr10:5062613-5062622
13	GATA1	chr10:5062077-5063180	K562	blood:	n/a	chr10:5062616-5062625
14	GATA2	chr10:5062379-5062783	K562	blood:	n/a	chr10:5062616-5062625
15	MAFK	chr10:5062445-5062815	Hela-S3	cervix:	n/a	chr10:5062608-5062623 chr10:5062607-5062621 chr10:5062608-5062624 chr10:5062608-5062619 chr10:5062609-5062620 chr10:5062613-5062622
16	RCOR1	chr10:5062393-5062770	K562	blood:	n/a	n/a
17	TEAD4	chr10:5062309-5062853	K562	blood:	n/a	n/a
18	FOXA2	chr10:5062345-5062772	A549	lung:	n/a	n/a
19	SP1	chr10:5062070-5062990	A549	lung:	n/a	chr10:5062518-5062528
20	CEBPB	chr10:5062558-5062813	Hela-S3	cervix:	n/a	n/a
21	MAX	chr10:5062392-5062828	Hela-S3	cervix:	n/a	n/a
22	NR3C1	chr10:5062348-5062960	A549	lung:	n/a	chr10:5062614-5062623 chr10:5062615-5062624
23	TBP	chr10:5062466-5062834	Hela-S3	cervix:	n/a	n/a
24	EP300	chr10:5062112-5063018	A549	lung:	n/a	chr10:5062456-5062466
25	JUND	chr10:5062363-5062857	A549	lung:	n/a	chr10:5062616-5062627 chr10:5062614-5062624 chr10:5062615-5062623 chr10:5062405-5062414 chr10:5062613-5062625
26	BCL3	chr10:5062256-5062847	A549	lung:	n/a	n/a
27	TRIM28	chr10:5062271-5062814	K562	blood:	n/a	n/a
28	TCF12	chr10:5062070-5063088	A549	lung:	n/a	chr10:5062456-5062465
29	NR3C1	chr10:5062519-5063020	A549	lung:	n/a	chr10:5062614-5062623 chr10:5062615-5062624
30	REST	chr10:5062271-5062828	A549	lung:	n/a	n/a
31	MAFF	chr10:5062440-5062771	K562	blood:	n/a	chr10:5062606-5062624
32	EP300	chr10:5062168-5062911	A549	lung:	n/a	chr10:5062456-5062466
33	RAD21	chr10:5062438-5062856	Hela-S3	cervix:	n/a	n/a
34	TEAD4	chr10:5062366-5062791	K562	blood:	n/a	n/a
35	SP1	chr10:5061889-5062901	A549	lung:	n/a	chr10:5062518-5062528
36	FOXA2	chr10:5062237-5062769	A549	lung:	n/a	n/a
37	POLR2A	chr10:5062509-5062850	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5049047..5051331-chr10:5062456..5064553,2	MCF-7	breast:

Variant related genes	Relation type
AKR1C2	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10795227	0.81[EUR][1000 genomes]
rs17134158	0.83[EUR][1000 genomes]
rs1937883	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856103	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856128	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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	24 gene(s)	inside rSNPs	diseases
16	nsv549884	chr10:5037926-5065248	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1036566	chr10:5037926-5261426	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv549883	chr10:5037926-5275762	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36032941	AKR1C3	cis	Muscle Skeletal	GTEx
rs36032941	AKR1C2	cis	Muscle Skeletal	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5057200-5066400	Weak transcription	Small Intestine	intestine
2	chr10:5057400-5067200	Weak transcription	Esophagus	oesophagus
3	chr10:5058000-5065800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:5059000-5071000	Weak transcription	Aorta	Aorta
5	chr10:5059400-5062800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr10:5059400-5063200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr10:5059400-5063400	Enhancers	Adipose Nuclei	Adipose
8	chr10:5059800-5064000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:5060000-5062800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:5060200-5063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:5060200-5063400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:5060400-5063000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr10:5060400-5063400	Enhancers	Stomach Mucosa	stomach
14	chr10:5060400-5065800	Enhancers	Hela-S3	cervix
15	chr10:5061000-5062800	Enhancers	Psoas Muscle	Psoas
16	chr10:5061000-5062800	Enhancers	Right Atrium	heart
17	chr10:5061000-5062800	Enhancers	HMEC	breast
18	chr10:5061000-5063800	Enhancers	HepG2	liver
19	chr10:5061200-5062800	Enhancers	HSMMtube	muscle
20	chr10:5061200-5062800	Enhancers	HUVEC	blood vessel
21	chr10:5061200-5063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:5061400-5063400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr10:5061400-5063800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr10:5061400-5064400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr10:5061600-5064000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:5061600-5064400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:5061800-5063800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr10:5062000-5063400	Enhancers	Fetal Intestine Small	intestine
29	chr10:5062200-5062800	Enhancers	Fetal Muscle Leg	muscle
30	chr10:5062200-5062800	Enhancers	HSMM	muscle
31	chr10:5062200-5063000	Enhancers	Primary hematopoietic stem cells	blood
32	chr10:5062200-5063400	Enhancers	K562	blood
33	chr10:5062200-5067400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr10:5062400-5063400	Enhancers	Fetal Intestine Large	intestine
35	chr10:5062400-5064200	Enhancers	A549	lung
36	chr10:5062600-5062800	Enhancers	Lung	lung
37	chr10:5062600-5063200	Weak transcription	Left Ventricle	heart
38	chr10:5062600-5063200	Weak transcription	Pancreas	Pancrea
39	chr10:5062600-5063800	Weak transcription	NHEK	skin
40	chr10:5062600-5064000	Weak transcription	Osteobl	bone
41	chr10:5062600-5064200	Weak transcription	NHDF-Ad	bronchial
42	chr10:5062600-5064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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