Variant report

Variant	rs74084707
Chromosome Location	chr12:47598565-47598566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12301612	1.00[AMR][1000 genomes]
rs12303418	1.00[AMR][1000 genomes]
rs12306190	1.00[AMR][1000 genomes]
rs55799908	1.00[AMR][1000 genomes]
rs56398760	1.00[AMR][1000 genomes]
rs60488819	1.00[AMR][1000 genomes]
rs73297599	1.00[AMR][1000 genomes]
rs74084709	1.00[AMR][1000 genomes]
rs74084924	1.00[AMR][1000 genomes]
rs74084925	1.00[AMR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47584000-47600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:47584800-47605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:47585400-47600400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:47585600-47599800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:47585800-47601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:47588200-47599600	Weak transcription	Fetal Thymus	thymus
8	chr12:47588600-47599800	Weak transcription	Spleen	Spleen
9	chr12:47589600-47599200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:47595200-47599200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:47597000-47598800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:47597200-47598600	Strong transcription	Primary B cells from cord blood	blood
13	chr12:47597200-47599600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:47597200-47600200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:47597400-47599000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:47597400-47599600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:47597600-47599800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:47597600-47600600	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr12:47597600-47600600	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr12:47597800-47598800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:47597800-47599000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:47597800-47600000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr12:47597800-47600400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:47598200-47600600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:47598400-47598600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:47598400-47598800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:47598400-47599000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr12:47598400-47599200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr12:47598400-47599800	Genic enhancers	Primary T cells from cord blood	blood
30	chr12:47598400-47600000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:47598400-47600400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:47598400-47600800	Enhancers	HUES48 Cell Line	embryonic stem cell

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