Variant report

Variant	rs2927224
Chromosome Location	chr15:34570783-34570784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:34570573-34570842	A549	lung:	n/a	chr15:34570656-34570665 chr15:34570655-34570666

Variant related genes	Relation type
SLC12A6	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11854901	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347808	0.89[AMR][1000 genomes]
rs347816	0.90[AMR][1000 genomes]
rs347826	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347840	0.81[AFR][1000 genomes]
rs347844	0.81[AFR][1000 genomes]
rs347850	0.90[AMR][1000 genomes]
rs347852	0.90[AMR][1000 genomes]
rs347853	0.81[AMR][1000 genomes]
rs347854	0.81[AMR][1000 genomes]
rs347855	0.90[AMR][1000 genomes]
rs347857	0.90[AMR][1000 genomes]
rs347859	0.90[AMR][1000 genomes]
rs347863	0.81[AMR][1000 genomes]
rs420576	1.00[AMR][1000 genomes]
rs426232	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv1798578	chr15:34543021-34988247	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv1804312	chr15:34543021-34988247	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1821622	chr15:34543021-34988247	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1850950	chr15:34543021-34988247	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	esv2758376	chr15:34543021-34988247	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	esv2760024	chr15:34543021-34988247	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv428303	chr15:34543021-34988247	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv1036475	chr15:34552879-34841587	Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv542342	chr15:34552879-34841587	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv1048550	chr15:34553078-34841447	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv542343	chr15:34553078-34841447	Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv471682	chr15:34560451-34882630	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34518000-34571800	Weak transcription	Stomach Mucosa	stomach
2	chr15:34546800-34571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:34546800-34573800	Weak transcription	HUVEC	blood vessel
4	chr15:34547600-34591200	Weak transcription	Aorta	Aorta
5	chr15:34548200-34592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:34549200-34571200	Weak transcription	Left Ventricle	heart
7	chr15:34550000-34587400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:34551200-34577000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:34551400-34577200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:34552200-34570800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:34555200-34584200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:34555200-34584600	Weak transcription	Esophagus	oesophagus
14	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
15	chr15:34562400-34584000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr15:34564000-34577000	Weak transcription	Fetal Heart	heart
17	chr15:34565000-34584600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr15:34565200-34575400	Weak transcription	GM12878-XiMat	blood
19	chr15:34565200-34575600	Weak transcription	Primary B cells from cord blood	blood
20	chr15:34565200-34575600	Weak transcription	Primary T cells from cord blood	blood
21	chr15:34565200-34584600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr15:34565600-34583200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:34566200-34584600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr15:34566400-34583400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:34566800-34584600	Weak transcription	Liver	Liver
26	chr15:34567600-34577200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr15:34568000-34584600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr15:34568200-34584600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:34568400-34571600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:34568800-34572200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:34569000-34571400	Weak transcription	NHDF-Ad	bronchial
32	chr15:34569000-34571600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:34569200-34571600	Weak transcription	A549	lung
34	chr15:34569600-34571000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr15:34569600-34577200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:34569800-34577000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr15:34570000-34584000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr15:34570200-34577000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:34570400-34571400	Weak transcription	Hela-S3	cervix

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