Variant report

Variant	rs12108656
Chromosome Location	chr4:74588938-74588939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74577764..74579440-chr4:74586621..74589129,2	K562	blood:
2	chr4:74574986..74577760-chr4:74588298..74591031,2	K562	blood:
3	chr4:74587494..74589438-chr4:74591195..74593381,3	K562	blood:
4	chr4:74584196..74587310-chr4:74587487..74589753,3	K562	blood:
5	chr4:74583020..74586578-chr4:74587301..74590136,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228277	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16849877	0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16849879	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16849881	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16849886	0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16849893	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1919472	0.81[AFR][1000 genomes]
rs4694634	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74581600-74589400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr4:74583600-74589200	Enhancers	NHDF-Ad	bronchial
3	chr4:74584800-74591000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:74585000-74591600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:74586600-74589200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:74586800-74589000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:74586800-74589400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:74587400-74589000	Enhancers	HMEC	breast
9	chr4:74587400-74589000	Enhancers	NH-A	brain
10	chr4:74587400-74589200	Enhancers	HUVEC	blood vessel
11	chr4:74587400-74589600	Enhancers	Hela-S3	cervix
12	chr4:74587400-74592600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:74587600-74591200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:74587600-74592000	Weak transcription	Placenta	Placenta
15	chr4:74587800-74590000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:74587800-74591600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:74588000-74591200	Weak transcription	NHEK	skin
18	chr4:74588000-74595000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr4:74588000-74595200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr4:74588200-74591200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:74588200-74591600	Weak transcription	NHLF	lung
22	chr4:74588600-74589000	Enhancers	K562	blood
23	chr4:74588600-74589200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:74588600-74591200	Weak transcription	A549	lung
25	chr4:74588600-74591200	Weak transcription	HSMM	muscle
26	chr4:74588600-74591400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:74588600-74592000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:74588800-74591200	Weak transcription	Osteobl	bone

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