Variant report

Variant	rs12194305
Chromosome Location	chr6:144322319-144322320
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2064660	0.81[ASN][1000 genomes]
rs2328537	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2328538	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2328539	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9321957	0.81[ASN][1000 genomes]
rs9386055	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv5516	chr6:144300321-144345812	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144305000-144327400	Weak transcription	Fetal Kidney	kidney
2	chr6:144305000-144327400	Weak transcription	Fetal Lung	lung
3	chr6:144306600-144327400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:144309000-144327400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:144310000-144327200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:144312800-144327400	Weak transcription	Left Ventricle	heart
7	chr6:144315200-144322800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:144315800-144327200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:144317600-144327400	Weak transcription	HMEC	breast
10	chr6:144318000-144327200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:144321000-144324600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:144321200-144323200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:144321400-144323000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:144321600-144325400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:144321800-144327400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:144322000-144327400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:144322200-144327400	Weak transcription	Rectal Mucosa Donor 29	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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