Variant report

Variant	rs35132293
Chromosome Location	chr17:45954724-45954725
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45954517..45959288-chr17:45971279..45974982,5	MCF-7	breast:
2	chr17:45934921..45937833-chr17:45952289..45955225,2	MCF-7	breast:
3	chr17:45927022..45929446-chr17:45953894..45957951,3	K562	blood:
4	chr17:45954484..45959209-chr17:45960047..45963266,6	MCF-7	breast:
5	chr17:45954562..45956149-chr17:45971370..45973332,2	K562	blood:
6	chr17:45952890..45955536-chr17:45970845..45973792,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264920	Chromatin interaction
ENSG00000189120	Chromatin interaction
ENSG00000167182	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11079804	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11545723	0.82[AMR][1000 genomes]
rs12452082	0.81[AMR][1000 genomes]
rs12948368	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17617250	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34428844	0.82[AMR][1000 genomes]
rs35004787	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35480192	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35533494	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35702577	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4793693	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4793734	0.82[AMR][1000 genomes]
rs4794225	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56119022	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62067368	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66721410	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45950400-45955400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:45950600-45955600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:45950800-45955200	Weak transcription	HSMM	muscle
4	chr17:45951000-45955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:45952600-45954800	Weak transcription	Fetal Lung	lung
6	chr17:45952600-45955600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:45953000-45954800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr17:45953000-45955200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:45953000-45955800	Weak transcription	HMEC	breast
10	chr17:45953000-45956000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:45953200-45955200	Weak transcription	HSMMtube	muscle
12	chr17:45953200-45955400	Weak transcription	Osteobl	bone
13	chr17:45953200-45955800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:45953400-45954800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr17:45953400-45954800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:45953400-45954800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:45953400-45955200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:45953400-45955400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:45953400-45955600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:45953600-45954800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:45953600-45955400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:45953600-45956200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr17:45954400-45954800	Enhancers	K562	blood
24	chr17:45954400-45957200	Enhancers	Placenta	Placenta
25	chr17:45954600-45954800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr17:45954600-45955000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:45954600-45955600	Enhancers	Fetal Thymus	thymus
28	chr17:45954600-45956200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:45954600-45956200	Enhancers	Lung	lung
30	chr17:45954600-45956800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr17:45954600-45956800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr17:45954600-45957000	Enhancers	Primary hematopoietic stem cells	blood
33	chr17:45954600-45957400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr17:45954600-45964400	Enhancers	Fetal Intestine Large	intestine

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