Variant report

Variant	rs6885343
Chromosome Location	chr5:95485059-95485060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95478380..95480797-chr5:95483671..95486972,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57708299	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57968801	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59577118	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59929901	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73134495	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73134499	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73134502	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73136503	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73136508	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73136510	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73136514	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95470400-95485800	Weak transcription	HSMMtube	muscle
2	chr5:95478200-95493200	Weak transcription	Gastric	stomach
3	chr5:95479400-95489000	Weak transcription	Pancreas	Pancrea
4	chr5:95480200-95491000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:95481600-95488000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:95482200-95491800	Weak transcription	Fetal Intestine Large	intestine
7	chr5:95482600-95485200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:95482600-95485200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:95482600-95485600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:95482600-95486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:95482600-95487400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:95482600-95494800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:95482800-95485200	Weak transcription	HSMM	muscle
14	chr5:95482800-95485800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:95482800-95486000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:95482800-95486400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:95482800-95487200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr5:95482800-95494800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:95483400-95487400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:95483600-95488400	Enhancers	NHEK	skin
21	chr5:95483800-95486800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:95483800-95488200	Enhancers	HMEC	breast
23	chr5:95484000-95486800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:95484200-95486800	Enhancers	Esophagus	oesophagus
25	chr5:95484400-95485200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:95484800-95485800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:95484800-95488600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:95485000-95485600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:95485000-95485600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:95485000-95485600	Enhancers	NHDF-Ad	bronchial
31	chr5:95485000-95486000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:95485000-95486200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:95485000-95486600	Enhancers	A549	lung

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