Variant report

Variant	rs12992482
Chromosome Location	chr2:38845411-38845412
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38845035..38846915-chr2:38976457..38978947,3	K562	blood:
2	chr2:38845387..38846915-chr2:38977001..38978947,2	K562	blood:
3	chr2:38831260..38832784-chr2:38845014..38847198,2	MCF-7	breast:
4	chr2:38838797..38841106-chr2:38843621..38847033,3	MCF-7	breast:
5	chr2:38837653..38839575-chr2:38845023..38848760,3	MCF-7	breast:
6	chr2:38844900..38847632-chr2:38892837..38895832,2	K562	blood:
7	chr2:38841845..38846119-chr2:38859783..38862280,3	K562	blood:
8	chr2:38842870..38845739-chr2:38968254..38970613,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction
ENSG00000143891	Chromatin interaction
ENSG00000152147	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10204680	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12612140	0.80[ASN][1000 genomes]
rs13010091	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011896	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13015860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016885	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13025153	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13415823	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17022983	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17022996	0.90[EUR][1000 genomes]
rs17493692	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116383	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2116385	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2163551	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2373420	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2373421	0.90[EUR][1000 genomes]
rs2373422	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34145681	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34533895	0.90[AFR][1000 genomes]
rs35273515	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35613649	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35861429	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67326552	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6742843	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6749343	0.98[ASN][1000 genomes]
rs72909831	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7561778	0.87[EUR][1000 genomes]
rs7583318	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7600802	0.87[EUR][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38839000-38847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:38841000-38846600	Weak transcription	HSMMtube	muscle
4	chr2:38841200-38846200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:38841200-38846600	Weak transcription	NHLF	lung
6	chr2:38841400-38845800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:38841600-38845600	Weak transcription	Fetal Kidney	kidney
8	chr2:38842200-38845800	Weak transcription	Stomach Mucosa	stomach
9	chr2:38842200-38846200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:38843000-38845600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:38843000-38846600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:38843000-38846600	Weak transcription	Osteobl	bone
13	chr2:38843000-38846800	Weak transcription	HSMM	muscle
14	chr2:38843400-38846800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:38843600-38847200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:38843800-38846600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:38844400-38850800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:38844600-38848000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:38845000-38846000	Weak transcription	K562	blood
20	chr2:38845000-38846600	Weak transcription	HepG2	liver

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