Variant report

Variant	rs56744930
Chromosome Location	chr19:36403667-36403668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10221486	0.86[EUR][1000 genomes]
rs1057265	0.90[EUR][1000 genomes]
rs11878444	0.90[EUR][1000 genomes]
rs11878880	0.82[EUR][1000 genomes]
rs11879537	0.86[EUR][1000 genomes]
rs11881157	0.86[EUR][1000 genomes]
rs11882386	0.90[EUR][1000 genomes]
rs13382036	0.86[EUR][1000 genomes]
rs2242590	0.90[EUR][1000 genomes]
rs34933126	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56922307	0.90[EUR][1000 genomes]
rs57068163	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57094555	0.90[EUR][1000 genomes]
rs57412339	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57516855	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57962062	0.86[EUR][1000 genomes]
rs58161969	0.90[EUR][1000 genomes]
rs58456578	0.86[EUR][1000 genomes]
rs58504183	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58551711	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58622306	1.00[ASN][1000 genomes]
rs58976020	0.86[EUR][1000 genomes]
rs59150589	0.86[EUR][1000 genomes]
rs59399698	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59416903	0.86[EUR][1000 genomes]
rs59478831	0.89[EUR][1000 genomes]
rs59534183	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60073802	0.90[EUR][1000 genomes]
rs60935148	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61660311	0.90[EUR][1000 genomes]
rs61672461	1.00[EUR][1000 genomes]
rs7246259	0.86[EUR][1000 genomes]
rs7246541	0.86[EUR][1000 genomes]
rs7247000	0.86[EUR][1000 genomes]
rs7252526	0.86[EUR][1000 genomes]
rs7253086	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254335	0.86[EUR][1000 genomes]
rs7256280	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256433	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257789	0.86[EUR][1000 genomes]
rs7257911	0.86[EUR][1000 genomes]
rs7258914	0.86[EUR][1000 genomes]
rs7260613	0.89[EUR][1000 genomes]
rs73590883	0.89[EUR][1000 genomes]
rs73590895	0.85[EUR][1000 genomes]
rs73599539	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599540	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599546	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73599554	0.86[EUR][1000 genomes]
rs73599561	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73599565	0.90[EUR][1000 genomes]
rs73599577	0.90[EUR][1000 genomes]
rs73599586	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599600	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599602	0.90[EUR][1000 genomes]
rs73928364	0.86[EUR][1000 genomes]
rs8110868	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs909135	0.95[EUR][1000 genomes]
rs909136	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36394800-36404000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:36399000-36406600	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:36400800-36404600	Enhancers	GM12878-XiMat	blood
4	chr19:36400800-36406800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr19:36400800-36407600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:36400800-36413400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:36401000-36405800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr19:36402400-36404600	Weak transcription	Osteobl	bone
9	chr19:36403000-36404400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:36403000-36404800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:36403000-36413400	Weak transcription	Spleen	Spleen
12	chr19:36403200-36404200	Weak transcription	Primary B cells from cord blood	blood
13	chr19:36403200-36404400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:36403200-36404400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:36403200-36404600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:36403200-36404600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:36403200-36404600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr19:36403200-36405600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr19:36403400-36403800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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