Variant report

Variant	rs2525099
Chromosome Location	chr17:46077661-46077662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46047115..46050048-chr17:46075533..46077931,3	MCF-7	breast:
2	chr17:46072351..46074224-chr17:46077019..46079438,2	MCF-7	breast:
3	chr17:46064933..46067351-chr17:46077390..46079029,2	K562	blood:
4	chr17:46064874..46067902-chr17:46077258..46079817,3	K562	blood:
5	chr17:46066387..46068128-chr17:46076064..46078648,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction
ENSG00000264701	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12450849	1.00[EUR][1000 genomes]
rs12452989	1.00[EUR][1000 genomes]
rs12453958	1.00[EUR][1000 genomes]
rs2525089	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2525100	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597167	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2597176	1.00[ASN][1000 genomes]
rs2923063	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56947799	1.00[ASN][1000 genomes]
rs60163848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60876341	1.00[EUR][1000 genomes]
rs61521088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321620	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321625	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321628	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321689	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73985431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73985445	1.00[ASN][1000 genomes]
rs9889272	1.00[EUR][1000 genomes]
rs9899629	1.00[EUR][1000 genomes]
rs9907614	1.00[EUR][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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46061800-46079600	Weak transcription	Right Atrium	heart
2	chr17:46068000-46079800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr17:46069000-46079600	Weak transcription	Fetal Thymus	thymus
4	chr17:46073200-46078800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:46073400-46081000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:46073800-46078800	Weak transcription	Brain Germinal Matrix	brain
7	chr17:46073800-46079600	Weak transcription	Esophagus	oesophagus
8	chr17:46074200-46078800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr17:46074200-46079600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:46074200-46079600	Weak transcription	K562	blood
11	chr17:46074200-46079800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:46075600-46079000	Weak transcription	Adipose Nuclei	Adipose
13	chr17:46076400-46079400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:46076400-46084600	Enhancers	Fetal Brain Male	brain
15	chr17:46076600-46077800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:46076600-46077800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr17:46076800-46077800	Enhancers	Osteobl	bone
18	chr17:46076800-46078000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:46076800-46078000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:46076800-46085600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr17:46077000-46077800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr17:46077000-46077800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:46077000-46078000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:46077000-46078000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr17:46077000-46078000	Enhancers	Fetal Brain Female	brain
26	chr17:46077000-46078000	Enhancers	Placenta	Placenta
27	chr17:46077000-46078800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr17:46077000-46084000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:46077200-46077800	Enhancers	Fetal Intestine Large	intestine
30	chr17:46077200-46077800	Enhancers	Fetal Intestine Small	intestine
31	chr17:46077200-46078800	Weak transcription	GM12878-XiMat	blood
32	chr17:46077400-46078600	Weak transcription	HSMMtube	muscle
33	chr17:46077400-46079000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:46077400-46079200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:46077400-46079400	Weak transcription	Brain Anterior Caudate	brain
36	chr17:46077400-46079600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:46077400-46079600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr17:46077400-46079600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:46077400-46079600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:46077400-46079600	Weak transcription	HSMM	muscle
41	chr17:46077400-46079600	Weak transcription	NH-A	brain
42	chr17:46077400-46079800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr17:46077400-46080400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:46077600-46077800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr17:46077600-46078600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:46077600-46078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr17:46077600-46079000	Weak transcription	HUVEC	blood vessel
48	chr17:46077600-46079200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr17:46077600-46079200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr17:46077600-46079200	Weak transcription	Fetal Muscle Leg	muscle

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