Variant report

Variant	rs59492432
Chromosome Location	chr2:38843257-38843258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38828087..38831042-chr2:38842947..38845050,2	MCF-7	breast:
2	chr2:38841845..38843703-chr2:38858739..38861283,2	K562	blood:
3	chr2:38841845..38846119-chr2:38859783..38862280,3	K562	blood:
4	chr2:38842870..38845739-chr2:38968254..38970613,2	K562	blood:

Variant related genes	Relation type
ENSG00000235586	Chromatin interaction
ENSG00000143889	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11894300	1.00[AMR][1000 genomes]
rs12105066	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023010	1.00[AMR][1000 genomes]
rs57091543	1.00[AMR][1000 genomes]
rs61048190	1.00[AMR][1000 genomes]
rs62142630	0.87[AFR][1000 genomes]
rs72913653	0.85[AFR][1000 genomes]
rs72913657	0.82[AFR][1000 genomes]
rs73929028	1.00[AMR][1000 genomes]
rs73929071	1.00[AMR][1000 genomes]
rs73929074	1.00[AMR][1000 genomes]
rs73929083	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929101	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930143	0.97[AFR][1000 genomes]
rs73931607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7591739	1.00[AMR][1000 genomes]
rs7605576	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581482	chr2:38799820-38858669	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581483	chr2:38799820-38862223	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835200-38843400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:38835400-38843400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:38838600-38845000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:38839000-38847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:38839800-38843400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:38841000-38846600	Weak transcription	HSMMtube	muscle
8	chr2:38841200-38846200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:38841200-38846600	Weak transcription	NHLF	lung
10	chr2:38841400-38845800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:38841600-38843600	Enhancers	K562	blood
12	chr2:38841600-38845600	Weak transcription	Fetal Kidney	kidney
13	chr2:38841800-38844200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:38842000-38843800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:38842000-38844400	Enhancers	HMEC	breast
16	chr2:38842200-38845800	Weak transcription	Stomach Mucosa	stomach
17	chr2:38842200-38846200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:38842400-38844400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:38842800-38843600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:38843000-38845000	Enhancers	HepG2	liver
21	chr2:38843000-38845600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:38843000-38846600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:38843000-38846600	Weak transcription	Osteobl	bone
24	chr2:38843000-38846800	Weak transcription	HSMM	muscle
25	chr2:38843200-38844000	Enhancers	NHEK	skin

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