Variant report

Variant	rs17422615
Chromosome Location	chr5:119724425-119724426
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119721254..119725042-chr5:119751252..119754462,3	K562	blood:
2	chr5:119719801..119721845-chr5:119723016..119725406,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1432452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146657	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17146672	1.00[AMR][1000 genomes]
rs17421815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17422218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17422685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17422844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17423226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17423413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17481162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17481204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17488014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17488069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17488416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17488458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17488966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17510029	1.00[AMR][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119721000-119725800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:119721000-119725800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:119721200-119725800	Enhancers	NHDF-Ad	bronchial
4	chr5:119722400-119724600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:119722400-119724800	Enhancers	HSMM	muscle
6	chr5:119722400-119725000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:119722400-119725200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:119722400-119725600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:119722400-119725600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:119722400-119725800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:119722400-119725800	Enhancers	Primary hematopoietic stem cells	blood
12	chr5:119722400-119726000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:119722600-119724800	Enhancers	HMEC	breast
14	chr5:119722600-119725000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:119722600-119725000	Enhancers	NHLF	lung
16	chr5:119722800-119724600	Enhancers	Hela-S3	cervix
17	chr5:119722800-119725000	Enhancers	Osteobl	bone
18	chr5:119722800-119727400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:119723000-119724800	Enhancers	HUVEC	blood vessel
20	chr5:119723000-119725000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:119723200-119724800	Enhancers	NH-A	brain
22	chr5:119723200-119725000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:119723400-119726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:119723800-119724600	Enhancers	HSMMtube	muscle
25	chr5:119724000-119726400	Enhancers	Dnd41	blood
26	chr5:119724200-119724600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:119724200-119724600	Flanking Active TSS	NHEK	skin
28	chr5:119724400-119724600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:119724400-119725000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:119724400-119725000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:119724400-119725000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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