Variant report

Variant	rs28571848
Chromosome Location	chr10:5062171-5062172
allele	C/T
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	GATA1	chr10:5062077-5063180	K562	blood:	n/a	chr10:5062616-5062625
2	SP1	chr10:5062070-5062990	A549	lung:	n/a	chr10:5062518-5062528
3	EP300	chr10:5062112-5063018	A549	lung:	n/a	chr10:5062456-5062466
4	FOSL2	chr10:5062164-5062739	A549	lung:	n/a	chr10:5062616-5062627 chr10:5062614-5062624 chr10:5062615-5062623 chr10:5062405-5062414 chr10:5062613-5062625
5	TCF12	chr10:5062070-5063088	A549	lung:	n/a	chr10:5062456-5062465
6	EP300	chr10:5062168-5062911	A549	lung:	n/a	chr10:5062456-5062466
7	FOS	chr10:5062151-5062738	HUVEC	blood vessel:	n/a	chr10:5062616-5062627 chr10:5062613-5062624 chr10:5062614-5062624 chr10:5062615-5062623 chr10:5062405-5062414 chr10:5062613-5062625
8	SP1	chr10:5061889-5062901	A549	lung:	n/a	chr10:5062518-5062528

Variant related genes	Relation type
AKR1C2	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11252894	0.85[EUR][1000 genomes]
rs12411321	0.85[EUR][1000 genomes]
rs12416161	0.85[EUR][1000 genomes]
rs1937881	0.85[EUR][1000 genomes]
rs2895059	0.85[EUR][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

No data

Chromatin state (count:44 , 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	chr10:5060000-5062600	Enhancers	Osteobl	bone
10	chr10:5060000-5062800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:5060200-5062600	Enhancers	NHDF-Ad	bronchial
12	chr10:5060200-5063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:5060200-5063400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:5060400-5062600	Enhancers	Liver	Liver
15	chr10:5060400-5063000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr10:5060400-5063400	Enhancers	Stomach Mucosa	stomach
17	chr10:5060400-5065800	Enhancers	Hela-S3	cervix
18	chr10:5060600-5062200	Weak transcription	K562	blood
19	chr10:5060800-5062600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:5061000-5062600	Enhancers	Left Ventricle	heart
21	chr10:5061000-5062600	Enhancers	NHEK	skin
22	chr10:5061000-5062800	Enhancers	Psoas Muscle	Psoas
23	chr10:5061000-5062800	Enhancers	Right Atrium	heart
24	chr10:5061000-5062800	Enhancers	HMEC	breast
25	chr10:5061000-5063800	Enhancers	HepG2	liver
26	chr10:5061200-5062200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr10:5061200-5062200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr10:5061200-5062800	Enhancers	HSMMtube	muscle
29	chr10:5061200-5062800	Enhancers	HUVEC	blood vessel
30	chr10:5061200-5063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:5061400-5062600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr10:5061400-5063400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr10:5061400-5063800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr10:5061400-5064400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:5061600-5062200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr10:5061600-5062400	Weak transcription	Fetal Intestine Large	intestine
37	chr10:5061600-5064000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:5061600-5064400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:5061800-5062200	Weak transcription	Fetal Muscle Leg	muscle
40	chr10:5061800-5062200	Weak transcription	HSMM	muscle
41	chr10:5061800-5062400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:5061800-5062400	Flanking Active TSS	A549	lung
43	chr10:5061800-5063800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr10:5062000-5063400	Enhancers	Fetal Intestine Small	intestine

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