Variant report

Variant	rs58814358
Chromosome Location	chr10:19783160-19783161
allele	C/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	RAD21	chr10:19782817-19783273	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr10:19782807-19783207	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr10:19782856-19783198	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr10:19782864-19783183	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr10:19782915-19783244	HepG2	liver:	n/a	n/a
6	CTCF	chr10:19783020-19783170	GM12872	blood:	n/a	n/a
7	RAD21	chr10:19782886-19783183	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr10:19782863-19783231	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF263	chr10:19782812-19783227	HEK293-T-REx	kidney:	n/a	n/a
10	MAX	chr10:19782807-19783239	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000236960	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10494863	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10494864	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10494865	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12248285	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12251105	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12262594	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13377162	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16918861	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16918877	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814612	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56702710	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59485850	0.95[ASN][1000 genomes]
rs60711263	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61322704	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7083055	1.00[AMR][1000 genomes]
rs73595820	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7922736	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7923712	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv466764	chr10:19400845-19979434	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv550128	chr10:19400845-19979434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2750885	chr10:19407891-19836364	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1043780	chr10:19415575-19827284	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1035870	chr10:19415575-19832047	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv550129	chr10:19417181-19834795	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1035591	chr10:19417883-19823164	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv540506	chr10:19417883-19823164	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2750886	chr10:19432774-19832094	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1047513	chr10:19461947-19810770	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv540507	chr10:19461947-19810770	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2759737	chr10:19694144-20024994	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv894930	chr10:19696007-19793195	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv2758211	chr10:19714637-20024994	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1049295	chr10:19740296-20509036	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv1042877	chr10:19749314-20067572	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv6010	chr10:19752318-19796695	Active TSS Enhancers Weak transcription Strong transcription Flanking Active 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	3 gene(s)	inside rSNPs	diseases
18	nsv550136	chr10:19768204-19793498	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv2757373	chr10:19776910-20004996	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	esv34306	chr10:19777069-20117944	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19778400-19783200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:19778400-19787400	Weak transcription	Fetal Lung	lung
3	chr10:19778400-19787400	Weak transcription	Fetal Muscle Leg	muscle
4	chr10:19778400-19790600	Weak transcription	Fetal Brain Male	brain
5	chr10:19778600-19795800	Weak transcription	Aorta	Aorta
6	chr10:19778800-19786000	Weak transcription	Fetal Kidney	kidney
7	chr10:19779000-19784400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:19779000-19785000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:19779000-19790000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:19779200-19789600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr10:19780200-19796400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:19780600-19784400	Weak transcription	Small Intestine	intestine
13	chr10:19781000-19784200	Strong transcription	Fetal Intestine Large	intestine
14	chr10:19781200-19783400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr10:19781400-19783600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:19782400-19783200	Strong transcription	Fetal Stomach	stomach
17	chr10:19782800-19783200	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr10:19782800-19783200	ZNF genes & repeats	HepG2	liver
19	chr10:19782800-19783400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:19782800-19783400	Strong transcription	Ovary	ovary
21	chr10:19783000-19783400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr10:19783000-19783400	ZNF genes & repeats	Lung	lung
23	chr10:19783000-19783800	Weak transcription	Colon Smooth Muscle	Colon

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