Variant report

Variant	rs17152054
Chromosome Location	chr7:25662396-25662397
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	chr7:25660475..25663311-chr7:25663363..25666015,2	K562	blood:
2	chr7:25661025..25663705-chr7:25665924..25668424,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10235998	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11973866	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534245	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12667261	0.85[ASN][1000 genomes]
rs12670768	0.86[JPT][hapmap]
rs1502948	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16873895	0.86[JPT][hapmap]
rs17152030	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17152036	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17152043	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17152061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1818146	0.87[JPT][hapmap]
rs1995438	0.80[ASN][1000 genomes]
rs2134479	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2214240	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28723687	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2960821	0.87[JPT][hapmap]
rs62454635	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73085996	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv1020230	chr7:25649344-25783071	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv2753233	chr7:25655060-25771160	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25655200-25664800	Weak transcription	Fetal Kidney	kidney
2	chr7:25655600-25664200	Weak transcription	Right Atrium	heart
3	chr7:25656600-25664200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:25657000-25665000	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:25657400-25664200	Weak transcription	Psoas Muscle	Psoas
6	chr7:25657600-25663600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:25660600-25664200	Weak transcription	Fetal Stomach	stomach
8	chr7:25660600-25664400	Weak transcription	Adipose Nuclei	Adipose
9	chr7:25660600-25664400	Weak transcription	Aorta	Aorta
10	chr7:25660600-25664800	Weak transcription	Placenta	Placenta
11	chr7:25660800-25663800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:25660800-25664200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:25660800-25664400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:25660800-25664800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:25660800-25665000	Weak transcription	Fetal Brain Male	brain
16	chr7:25660800-25665000	Weak transcription	Fetal Thymus	thymus
17	chr7:25660800-25665200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:25661400-25663800	Weak transcription	Primary B cells from cord blood	blood
19	chr7:25661400-25664800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:25661400-25666200	Weak transcription	Left Ventricle	heart
21	chr7:25661600-25666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:25661800-25663200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:25662000-25662600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:25662200-25662800	Enhancers	Fetal Lung	lung

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