Variant report

Variant	rs8038493
Chromosome Location	chr15:34568079-34568080
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	chr15:34567418-34568871	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr15:34567802-34568659	Hela-S3	cervix:	n/a	n/a
3	FOS	chr15:34567925-34568265	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr15:34567533-34568377	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr15:34567892-34568305	A549	lung:	n/a	n/a
6	RFX5	chr15:34567446-34568825	Hela-S3	cervix:	n/a	n/a
7	USF2	chr15:34567932-34568152	Hela-S3	cervix:	n/a	n/a
8	TCF7L2	chr15:34567975-34568250	Hela-S3	cervix:	n/a	n/a
9	GATA3	chr15:34567836-34568399	A549	lung:	n/a	n/a
10	CEBPB	chr15:34567807-34568445	A549	lung:	n/a	n/a
11	SP1	chr15:34567753-34568392	A549	lung:	n/a	n/a
12	GATA3	chr15:34567738-34568563	A549	lung:	n/a	n/a
13	FOSL2	chr15:34567283-34568381	A549	lung:	n/a	chr15:34567676-34567685
14	STAT3	chr15:34567556-34568343	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr15:34567860-34568834	Hela-S3	cervix:	n/a	n/a
16	EP300	chr15:34567436-34568357	Hela-S3	cervix:	n/a	chr15:34567699-34567713 chr15:34567607-34567621
17	GATA3	chr15:34567956-34568354	MCF-7	breast:	n/a	n/a
18	CEBPB	chr15:34567944-34568282	A549	lung:	n/a	n/a

Variant related genes	Relation type
SLC12A6	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10152189	0.94[AFR][1000 genomes]
rs10152222	0.98[AFR][1000 genomes]
rs10152351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10152407	0.98[AFR][1000 genomes]
rs10162625	0.98[AFR][1000 genomes]
rs10467958	0.94[AFR][1000 genomes]
rs10467959	0.94[AFR][1000 genomes]
rs10468070	0.94[AFR][1000 genomes]
rs12324422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12324469	0.98[AFR][1000 genomes]
rs13379654	0.98[AFR][1000 genomes]
rs13380356	0.90[AFR][1000 genomes]
rs13380366	0.90[AFR][1000 genomes]
rs16958911	0.98[AFR][1000 genomes]
rs16958950	0.96[AFR][1000 genomes]
rs28442188	0.98[AFR][1000 genomes]
rs28543997	0.90[AFR][1000 genomes]
rs28608058	0.94[AFR][1000 genomes]
rs28664278	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28762482	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28807170	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28857572	0.88[AFR][1000 genomes]
rs28871951	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56964418	0.94[AFR][1000 genomes]
rs57044113	0.98[AFR][1000 genomes]
rs57573060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58198195	0.94[AFR][1000 genomes]
rs59662878	0.84[AFR][1000 genomes]
rs60708162	0.94[AFR][1000 genomes]
rs61659679	0.98[AFR][1000 genomes]
rs6495649	0.94[AFR][1000 genomes]
rs6495650	0.94[AFR][1000 genomes]
rs6495651	0.96[AFR][1000 genomes]
rs6495652	0.94[AFR][1000 genomes]
rs6495653	0.84[AFR][1000 genomes]
rs6495654	0.90[AFR][1000 genomes]
rs6495655	0.90[AFR][1000 genomes]
rs6495656	0.90[AFR][1000 genomes]
rs6495657	0.90[AFR][1000 genomes]
rs6495658	0.90[AFR][1000 genomes]
rs6495659	0.86[AFR][1000 genomes]
rs7165738	0.98[AFR][1000 genomes]
rs7165973	0.98[AFR][1000 genomes]
rs7166559	0.90[AFR][1000 genomes]
rs7167363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7167379	0.86[AFR][1000 genomes]
rs7168029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7168168	0.94[AFR][1000 genomes]
rs7168361	0.96[AFR][1000 genomes]
rs7168606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7168707	0.94[AFR][1000 genomes]
rs7169731	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7169802	0.94[AFR][1000 genomes]
rs7170829	0.94[AFR][1000 genomes]
rs7175327	0.94[AFR][1000 genomes]
rs7175736	0.94[AFR][1000 genomes]
rs7176138	0.94[AFR][1000 genomes]
rs7183736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8023999	0.98[AFR][1000 genomes]
rs8024424	0.92[AFR][1000 genomes]
rs8024443	0.90[AFR][1000 genomes]
rs8025075	0.90[AFR][1000 genomes]
rs8026499	0.94[AFR][1000 genomes]
rs8029788	0.90[AFR][1000 genomes]
rs8030737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8032579	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8033545	0.90[AFR][1000 genomes]
rs8035044	0.94[AFR][1000 genomes]
rs8035650	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8036094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8039233	0.98[AFR][1000 genomes]
rs8039356	0.94[AFR][1000 genomes]
rs8042422	0.90[AFR][1000 genomes]
rs8042605	0.90[AFR][1000 genomes]
rs9806767	0.92[AFR][1000 genomes]
rs9806778	0.90[AFR][1000 genomes]
rs9989297	0.94[AFR][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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34518000-34571800	Weak transcription	Stomach Mucosa	stomach
2	chr15:34543000-34568200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:34546800-34569400	Weak transcription	Ovary	ovary
4	chr15:34546800-34571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:34546800-34573800	Weak transcription	HUVEC	blood vessel
6	chr15:34547600-34591200	Weak transcription	Aorta	Aorta
7	chr15:34548200-34592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:34549200-34571200	Weak transcription	Left Ventricle	heart
9	chr15:34550000-34587400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:34551200-34569400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr15:34551200-34577000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr15:34551400-34577200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:34552200-34570800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:34555200-34584200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:34555200-34584600	Weak transcription	Esophagus	oesophagus
17	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
18	chr15:34562400-34584000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:34563000-34569400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr15:34564000-34577000	Weak transcription	Fetal Heart	heart
21	chr15:34564600-34569800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:34565000-34584600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:34565200-34575400	Weak transcription	GM12878-XiMat	blood
24	chr15:34565200-34575600	Weak transcription	Primary B cells from cord blood	blood
25	chr15:34565200-34575600	Weak transcription	Primary T cells from cord blood	blood
26	chr15:34565200-34584600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr15:34565600-34583200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:34566000-34570400	Enhancers	Hela-S3	cervix
29	chr15:34566200-34584600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr15:34566400-34583400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:34566800-34584600	Weak transcription	Liver	Liver
32	chr15:34567200-34569200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:34567400-34568400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:34567400-34568400	Enhancers	NHEK	skin
35	chr15:34567400-34568800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:34567400-34569000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:34567400-34569000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:34567400-34569200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:34567400-34569200	Enhancers	Osteobl	bone
40	chr15:34567600-34568200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr15:34567600-34569000	Enhancers	NHDF-Ad	bronchial
42	chr15:34567600-34569600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:34567600-34577200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:34567800-34568200	Flanking Active TSS	A549	lung
45	chr15:34568000-34568200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:34568000-34568400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr15:34568000-34584600	Weak transcription	Monocytes-CD14+_RO01746	blood

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