Variant report

Variant	rs855164
Chromosome Location	chr12:47644334-47644335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs214667	0.83[AMR][1000 genomes]
rs214668	0.83[AMR][1000 genomes]
rs214669	0.83[AMR][1000 genomes]
rs214672	0.82[AMR][1000 genomes]
rs214714	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47630400-47653600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:47632600-47644600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:47632600-47646000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:47633200-47653800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:47636200-47653400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:47636600-47647000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:47642400-47644400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:47642400-47644400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr12:47642400-47644400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:47642600-47644400	Enhancers	HMEC	breast
11	chr12:47643400-47644400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:47643600-47644400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:47643800-47644400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:47644000-47646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:47644000-47660600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:47644200-47644400	Genic enhancers	A549	lung
17	chr12:47644200-47645200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:47644200-47645600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:47644200-47646400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:47644200-47646400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:47644200-47651000	Weak transcription	Primary T cells from cord blood	blood
22	chr12:47644200-47653400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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