Variant report

Variant	rs61856103
Chromosome Location	chr10:5061541-5061542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr10:5060895-5061719	A549	lung:	n/a	n/a
2	RAD21	chr10:5061073-5061594	A549	lung:	n/a	n/a
3	FOSL2	chr10:5060867-5061756	A549	lung:	n/a	n/a
4	RAD21	chr10:5061185-5061592	HCT-116	colon:	n/a	n/a
5	MAX	chr10:5060887-5061542	A549	lung:	n/a	n/a
6	RAD21	chr10:5061051-5061653	MCF-7	breast:	n/a	n/a
7	SP1	chr10:5060696-5061618	A549	lung:	n/a	n/a
8	MAX	chr10:5060873-5061648	A549	lung:	n/a	n/a
9	CTCF	chr10:5061190-5061549	MCF-7	breast:	n/a	n/a
10	SP1	chr10:5060758-5061725	A549	lung:	n/a	n/a
11	EP300	chr10:5060846-5061751	A549	lung:	n/a	n/a
12	RAD21	chr10:5061067-5061551	HepG2	liver:	n/a	n/a
13	RAD21	chr10:5060987-5061617	A549	lung:	n/a	n/a
14	TCF12	chr10:5059786-5061658	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5061036..5061618-chr10:5325622..5326440,2	MCF-7	breast:
2	chr10:5060824..5061816-chr10:5136872..5137424,2	MCF-7	breast:

No data

Variant related genes	Relation type
AKR1C2	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17134158	0.82[EUR][1000 genomes]
rs1937883	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36032941	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856128	0.90[AMR][1000 genomes];0.95[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
rs61856103	AKR1C3	cis	Muscle Skeletal	GTEx
rs61856103	AKR1C2	cis	Muscle Skeletal	GTEx

Chromatin state (count:46 , 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	chr10:5060000-5061800	Enhancers	Fetal Muscle Leg	muscle
10	chr10:5060000-5062600	Enhancers	Osteobl	bone
11	chr10:5060000-5062800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:5060200-5061800	Enhancers	Fetal Stomach	stomach
13	chr10:5060200-5062600	Enhancers	NHDF-Ad	bronchial
14	chr10:5060200-5063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:5060200-5063400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:5060400-5061800	Enhancers	HSMM	muscle
17	chr10:5060400-5062600	Enhancers	Liver	Liver
18	chr10:5060400-5063000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr10:5060400-5063400	Enhancers	Stomach Mucosa	stomach
20	chr10:5060400-5065800	Enhancers	Hela-S3	cervix
21	chr10:5060600-5061800	Enhancers	A549	lung
22	chr10:5060600-5062200	Weak transcription	K562	blood
23	chr10:5060800-5062600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:5061000-5061600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:5061000-5061600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:5061000-5061600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:5061000-5061800	Enhancers	Duodenum Mucosa	Duodenum
28	chr10:5061000-5062600	Enhancers	Left Ventricle	heart
29	chr10:5061000-5062600	Enhancers	NHEK	skin
30	chr10:5061000-5062800	Enhancers	Psoas Muscle	Psoas
31	chr10:5061000-5062800	Enhancers	Right Atrium	heart
32	chr10:5061000-5062800	Enhancers	HMEC	breast
33	chr10:5061000-5063800	Enhancers	HepG2	liver
34	chr10:5061200-5061800	Enhancers	Stomach Smooth Muscle	stomach
35	chr10:5061200-5062000	Weak transcription	Fetal Intestine Small	intestine
36	chr10:5061200-5062200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr10:5061200-5062200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr10:5061200-5062800	Enhancers	HSMMtube	muscle
39	chr10:5061200-5062800	Enhancers	HUVEC	blood vessel
40	chr10:5061200-5063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:5061400-5061600	Enhancers	Fetal Intestine Large	intestine
42	chr10:5061400-5061800	Enhancers	Colon Smooth Muscle	Colon
43	chr10:5061400-5062600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr10:5061400-5063400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr10:5061400-5063800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr10:5061400-5064400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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