Variant report

Variant	rs2525104
Chromosome Location	chr17:46084026-46084027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46083701..46085989-chr17:46089198..46091342,3	K562	blood:
2	chr17:46083495..46085251-chr17:46088576..46090117,2	MCF-7	breast:
3	chr17:46048272..46049885-chr17:46082091..46084425,2	K562	blood:
4	chr17:46018743..46020432-chr17:46082441..46084450,2	K562	blood:
5	chr17:46082138..46085866-chr17:46087014..46089274,3	K562	blood:

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction
ENSG00000108439	Chromatin interaction
ENSG00000234494	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2525097	0.87[EUR][1000 genomes]
rs2597164	0.86[EUR][1000 genomes]
rs2597178	0.85[EUR][1000 genomes]
rs2737	0.83[EUR][1000 genomes]
rs7216411	0.93[ASN][1000 genomes]
rs736387	0.83[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46076400-46084600	Enhancers	Fetal Brain Male	brain
2	chr17:46076800-46085600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:46078800-46084800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr17:46080600-46084400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:46080600-46088800	Weak transcription	Hela-S3	cervix
6	chr17:46081000-46089000	Weak transcription	Brain Angular Gyrus	brain
7	chr17:46081200-46085000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr17:46081200-46088600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:46081400-46084200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr17:46081600-46084800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:46081600-46085000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:46081600-46088800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:46081800-46084200	Enhancers	Fetal Brain Female	brain
14	chr17:46081800-46084400	Weak transcription	Adipose Nuclei	Adipose
15	chr17:46081800-46085000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:46082200-46084800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr17:46082600-46088800	Weak transcription	A549	lung
18	chr17:46082600-46090000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:46082800-46086800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:46082800-46088800	Weak transcription	Fetal Kidney	kidney
21	chr17:46083000-46084400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:46083000-46088400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:46083000-46088400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:46083000-46088800	Weak transcription	Placenta	Placenta
25	chr17:46083000-46088800	Weak transcription	HUVEC	blood vessel
26	chr17:46083000-46088800	Weak transcription	NHEK	skin
27	chr17:46083000-46089000	Weak transcription	HMEC	breast
28	chr17:46083000-46089200	Weak transcription	HSMMtube	muscle
29	chr17:46083600-46086600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr17:46083600-46088600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:46083600-46088600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr17:46083600-46088800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:46083800-46088600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:46083800-46088800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr17:46083800-46089200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:46084000-46088600	Weak transcription	GM12878-XiMat	blood
37	chr17:46084000-46088800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:46084000-46088800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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