Variant report

Variant	rs7700417
Chromosome Location	chr5:95720359-95720360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95718819..95721570-chr5:95740186..95742530,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10036439	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10040098	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10213823	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213965	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476552	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10476553	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515237	0.95[CEU][hapmap];0.90[JPT][hapmap]
rs12332295	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13159579	0.95[CEU][hapmap]
rs13168460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13169290	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17085655	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085658	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085665	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17085675	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28585673	0.83[AFR][1000 genomes]
rs2882298	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35247507	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35648612	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36115340	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3811951	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs59139497	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6234	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6235	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6869253	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6890994	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7713317	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7722200	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285019	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95718800-95726800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:95719000-95721000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr5:95719600-95720400	Enhancers	Right Atrium	heart
4	chr5:95719600-95720400	Enhancers	Stomach Smooth Muscle	stomach
5	chr5:95719600-95720600	Enhancers	HSMM	muscle
6	chr5:95719600-95720800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:95719600-95720800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:95719600-95720800	Enhancers	Fetal Heart	heart
9	chr5:95719600-95721000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:95719600-95721000	Enhancers	Hela-S3	cervix
11	chr5:95719600-95721000	Enhancers	HMEC	breast
12	chr5:95719600-95721000	Enhancers	Osteobl	bone
13	chr5:95719800-95720400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:95719800-95720400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:95719800-95720600	Enhancers	NH-A	brain
16	chr5:95719800-95720800	Enhancers	HUVEC	blood vessel
17	chr5:95719800-95720800	Enhancers	NHDF-Ad	bronchial
18	chr5:95719800-95721400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:95720000-95720400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:95720000-95720400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:95720000-95720400	Enhancers	Brain Anterior Caudate	brain
22	chr5:95720000-95720600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:95720000-95720600	Enhancers	NHEK	skin
24	chr5:95720000-95720800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:95720000-95720800	Enhancers	Brain Angular Gyrus	brain
26	chr5:95720200-95720400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:95720200-95720400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:95720200-95720400	Enhancers	Pancreas	Pancrea
29	chr5:95720200-95720400	Flanking Active TSS	HSMMtube	muscle
30	chr5:95720200-95720600	Enhancers	Brain Hippocampus Middle	brain
31	chr5:95720200-95720600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr5:95720200-95720600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr5:95720200-95720800	Enhancers	Adipose Nuclei	Adipose
34	chr5:95720200-95721000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:95720200-95721000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:95720200-95721000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:95720200-95722000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:95720200-95722200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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