Variant report

Variant	rs67362530
Chromosome Location	chr10:5043504-5043505
allele	A/G
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	BCL3	chr10:5043019-5045474	A549	lung:	n/a	chr10:5043544-5043553
2	TAF1	chr10:5043464-5044582	A549	lung:	n/a	n/a
3	POLR2A	chr10:5043151-5045162	A549	lung:	n/a	n/a
4	POLR2A	chr10:5043434-5043518	A549	lung:	n/a	n/a
5	POLR2A	chr10:5043423-5044769	A549	lung:	n/a	n/a
6	SIN3AK20	chr10:5043096-5044595	A549	lung:	n/a	n/a
7	GATA3	chr10:5043090-5045307	A549	lung:	n/a	chr10:5043398-5043415 chr10:5043407-5043416 chr10:5043543-5043553
8	POLR2A	chr10:5043427-5043681	HepG2	liver:	n/a	n/a
9	HEY1	chr10:5043410-5043979	HepG2	liver:	n/a	n/a
10	SP1	chr10:5039869-5045261	A549	lung:	n/a	n/a
11	POLR2A	chr10:5043445-5043832	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:5043176-5044679	A549	lung:	n/a	n/a
13	REST	chr10:5043035-5045421	A549	lung:	n/a	n/a
14	POLR2A	chr10:5043407-5044146	A549	lung:	n/a	n/a
15	BCL3	chr10:5043450-5044764	A549	lung:	n/a	chr10:5043544-5043553
16	SIN3AK20	chr10:5043231-5045188	A549	lung:	n/a	n/a
17	JUND	chr10:5043066-5044758	A549	lung:	n/a	n/a
18	SP1	chr10:5039954-5045161	A549	lung:	n/a	n/a
19	SIX5	chr10:5043322-5045281	A549	lung:	n/a	n/a
20	TCF12	chr10:5042180-5045370	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5030937..5032573-chr10:5043050..5044672,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239148	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10904385	0.86[ASN][1000 genomes]
rs11252870	0.96[ASN][1000 genomes]
rs12355347	0.81[ASN][1000 genomes]
rs12764498	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35767584	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3885232	0.96[ASN][1000 genomes]
rs3898029	0.85[ASN][1000 genomes]
rs4344395	0.84[ASN][1000 genomes]
rs56136181	0.85[ASN][1000 genomes]
rs6601884	0.85[ASN][1000 genomes]
rs6650153	0.85[ASN][1000 genomes]
rs68057779	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7906245	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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
16	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
17	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
18	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
19	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs67362530	AKR1C1	cis	Whole Blood	GTEx
rs67362530	AKR1C2	cis	Thyroid	GTEx
rs67362530	AKR1C2	cis	Esophagus Muscularis	GTEx
rs67362530	AKR1C2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle
2	chr10:5008200-5044000	Weak transcription	Fetal Brain Male	brain
3	chr10:5011600-5044200	Weak transcription	Fetal Brain Female	brain
4	chr10:5011800-5043800	Weak transcription	Psoas Muscle	Psoas
5	chr10:5019400-5044600	Weak transcription	Brain Germinal Matrix	brain
6	chr10:5021800-5044400	Weak transcription	NHDF-Ad	bronchial
7	chr10:5024400-5056800	Weak transcription	Esophagus	oesophagus
8	chr10:5024800-5044400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:5024800-5051400	Weak transcription	Fetal Intestine Small	intestine
10	chr10:5025000-5045800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr10:5025200-5044200	Weak transcription	K562	blood
12	chr10:5027600-5045000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr10:5027800-5045800	Weak transcription	Fetal Stomach	stomach
14	chr10:5027800-5045800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:5027800-5050600	Weak transcription	Pancreas	Pancrea
16	chr10:5028000-5045800	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:5033800-5044600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr10:5040000-5045200	Transcr. at gene 5' and 3'	A549	lung
19	chr10:5040000-5045600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:5041000-5044600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:5041200-5043800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr10:5041200-5044000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:5041200-5044200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:5041600-5045800	Weak transcription	HMEC	breast
25	chr10:5041600-5047400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:5042200-5045600	Weak transcription	Osteobl	bone
27	chr10:5042400-5044000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:5042600-5044000	Enhancers	Liver	Liver
29	chr10:5043200-5044000	Enhancers	HepG2	liver
30	chr10:5043200-5045200	Active TSS	Right Atrium	heart
31	chr10:5043400-5044000	Active TSS	Adipose Nuclei	Adipose
32	chr10:5043400-5046000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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