Variant report

Variant	rs7600665
Chromosome Location	chr2:55652430-55652431
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	chr2:55646192..55651046-chr2:55651862..55657167,5	K562	blood:
2	chr2:55651546..55653549-chr2:55657687..55659327,2	K562	blood:

Variant related genes	Relation type
ENSG00000115355	Chromatin interaction

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

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

rs_ID	r²[population]
rs17046835	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs17046888	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs17046898	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs60920006	0.84[AFR][1000 genomes]
rs6714932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6735009	0.85[AFR][1000 genomes]
rs72915982	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915986	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915988	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915989	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915991	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72923130	0.87[AFR][1000 genomes]
rs72923150	0.91[AFR][1000 genomes]
rs72923183	0.84[AFR][1000 genomes]
rs72923194	0.84[AFR][1000 genomes]
rs72929306	0.90[AFR][1000 genomes]
rs7562535	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7589558	0.89[YRI][hapmap];0.85[AFR][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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55648000-55653400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:55648000-55659000	Weak transcription	Adipose Nuclei	Adipose
3	chr2:55649600-55653000	Enhancers	HepG2	liver
4	chr2:55650000-55653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:55650000-55659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:55651000-55653400	Enhancers	HMEC	breast
7	chr2:55651200-55653400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:55651200-55653400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:55651600-55653400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:55651600-55653400	Enhancers	NHEK	skin
11	chr2:55651800-55653200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:55652000-55652600	Enhancers	NHDF-Ad	bronchial
13	chr2:55652000-55653400	Enhancers	NHLF	lung
14	chr2:55652200-55653000	Enhancers	K562	blood
15	chr2:55652200-55653200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:55652200-55653200	Enhancers	HUVEC	blood vessel
17	chr2:55652200-55653200	Enhancers	Osteobl	bone
18	chr2:55652200-55653400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:55652200-55653400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:55652200-55653400	Flanking Active TSS	Hela-S3	cervix
21	chr2:55652200-55653400	Enhancers	NH-A	brain
22	chr2:55652400-55652600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr2:55652400-55653000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:55652400-55653000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:55652400-55653000	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:55652400-55653000	Enhancers	HSMM	muscle
27	chr2:55652400-55653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:55652400-55653400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:55652400-55653400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:55652400-55653400	Enhancers	Stomach Mucosa	stomach
31	chr2:55652400-55653400	Flanking Active TSS	A549	lung
32	chr2:55652400-55653400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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