Variant report

Variant	rs6869224
Chromosome Location	chr5:42757994-42757995
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10069861	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13168440	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13171019	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28919899	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5025611	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription 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	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking 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	298 gene(s)	inside rSNPs	diseases
9	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
10	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
11	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42756600-42758000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:42756600-42758000	Active TSS	Fetal Brain Female	brain
3	chr5:42756800-42758000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:42756800-42758000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
5	chr5:42756800-42758000	Active TSS	Brain Hippocampus Middle	brain
6	chr5:42756800-42758000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:42757000-42758000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:42757000-42758400	Active TSS	GM12878-XiMat	blood
9	chr5:42757200-42758000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr5:42757200-42758000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:42757200-42758000	Enhancers	Fetal Heart	heart
12	chr5:42757400-42758000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:42757400-42758000	Flanking Active TSS	NHDF-Ad	bronchial
14	chr5:42757600-42758000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:42757600-42758000	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr5:42757800-42758000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:42757800-42758000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:42757800-42758000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:42757800-42758000	Enhancers	Primary B cells from cord blood	blood
20	chr5:42757800-42758000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:42757800-42758000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr5:42757800-42758000	Active TSS	Muscle Satellite Cultured Cells	--
23	chr5:42757800-42758000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:42757800-42758000	Enhancers	Fetal Lung	lung
25	chr5:42757800-42758000	Enhancers	HMEC	breast
26	chr5:42757800-42758200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:42757800-42758200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:42757800-42758600	Enhancers	HSMM	muscle
29	chr5:42757800-42758800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:42757800-42759000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:42757800-42759200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:42757800-42759400	Weak transcription	HUVEC	blood vessel
33	chr5:42757800-42760400	Weak transcription	K562	blood
34	chr5:42757800-42760800	Weak transcription	Fetal Brain Male	brain
35	chr5:42757800-42772200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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