Variant report

Variant	rs17760587
Chromosome Location	chr2:173918638-173918639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173914253..173918906-chr2:173919243..173923517,5	MCF-7	breast:
2	chr2:173907933..173910689-chr2:173917476..173919133,2	K562	blood:
3	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:
4	chr2:173902789..173904327-chr2:173917257..173919132,2	K562	blood:
5	chr2:173914464..173920190-chr2:173936598..173942304,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12619395	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12623346	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1345008	1.00[AFR][1000 genomes]
rs16861227	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769202	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6710789	1.00[AFR][1000 genomes]
rs73019627	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7425411	1.00[AFR][1000 genomes]
rs752729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562681	0.95[ASN][1000 genomes]
rs7567603	1.00[AFR][1000 genomes]
rs7603458	0.86[EUR][1000 genomes];0.95[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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr2:173893200-173922000	Weak transcription	Brain Anterior Caudate	brain
2	chr2:173904400-173921400	Weak transcription	Ovary	ovary
3	chr2:173908600-173921400	Weak transcription	Left Ventricle	heart
4	chr2:173908800-173924200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:173914800-173921600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:173914800-173923400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:173914800-173923400	Weak transcription	Liver	Liver
8	chr2:173915000-173921400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:173915200-173924000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:173915200-173929200	Weak transcription	Fetal Lung	lung
11	chr2:173915800-173920400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:173915800-173921400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:173916800-173923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:173916800-173927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:173917000-173920200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:173917200-173921400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:173917600-173919800	Enhancers	HepG2	liver
18	chr2:173917800-173918800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:173917800-173919200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:173917800-173919200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:173917800-173919400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:173917800-173919800	Enhancers	A549	lung
23	chr2:173918000-173919800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:173918200-173921400	Weak transcription	NHDF-Ad	bronchial
25	chr2:173918400-173918800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:173918400-173919000	Enhancers	Adipose Nuclei	Adipose
27	chr2:173918400-173919000	Enhancers	Placenta	Placenta
28	chr2:173918400-173919800	Enhancers	Osteobl	bone
29	chr2:173918400-173920600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:173918400-173923000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:173918600-173919200	Enhancers	Placenta Amnion	Placenta Amnion

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