Variant report

Variant	rs57248461
Chromosome Location	chr3:194912985-194912986
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194904005..194905997-chr3:194910179..194913002,2	K562	blood:
2	chr3:194911368..194913170-chr3:194913312..194915345,2	K562	blood:
3	chr3:194912480..194914940-chr3:194921824..194924539,3	K562	blood:
4	chr3:194904349..194905997-chr3:194910043..194914098,3	K562	blood:

Variant related genes	Relation type
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2410807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56668696	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57365391	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57803498	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58385190	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58447820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59334385	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59410531	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59614349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60222943	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60263361	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60356340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61317745	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61333086	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6771576	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6777848	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6778619	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781005	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781962	1.00[AMR][1000 genomes]
rs6782078	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6786163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6788143	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6788257	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6788492	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6796828	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs736919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs736920	0.96[AFR][1000 genomes]
rs73890716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890719	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890723	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890724	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890725	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890726	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890735	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890739	0.99[AFR][1000 genomes];1.00[AMR][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	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
12	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
14	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194903000-194915200	Weak transcription	Brain Substantia Nigra	brain
2	chr3:194903200-194915000	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:194904600-194916400	Weak transcription	Right Atrium	heart
4	chr3:194907600-194918400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:194909400-194916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:194909600-194915200	Weak transcription	NH-A	brain
7	chr3:194909600-194916400	Weak transcription	Esophagus	oesophagus
8	chr3:194909600-194921000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:194909800-194916000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:194909800-194916000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:194909800-194916400	Weak transcription	Pancreas	Pancrea
12	chr3:194910600-194919200	Weak transcription	Fetal Lung	lung
13	chr3:194911200-194916400	Weak transcription	Lung	lung
14	chr3:194911800-194913000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr3:194911800-194913800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:194912200-194913800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:194912600-194913000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr3:194912600-194913200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:194912800-194913000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:194912800-194913400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:194912800-194914000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:194912800-194915200	Weak transcription	NHDF-Ad	bronchial

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