Variant report

Variant	rs8039233
Chromosome Location	chr15:34568682-34568683
allele	A/G
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	RFX5	chr15:34567446-34568825	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr15:34567860-34568834	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34568431..34570123-chr15:34573544..34575147,2	K562	blood:

Variant related genes	Relation type
SLC12A6	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10152189	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10152222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10152351	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs10152407	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10162625	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10467958	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs10467959	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10468070	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11072967	1.00[CEU][hapmap]
rs12324422	0.98[AFR][1000 genomes]
rs12324469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379654	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13380356	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13380366	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16958911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16958950	1.00[ASW][hapmap];0.94[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2615359	1.00[EUR][1000 genomes]
rs2705349	1.00[EUR][1000 genomes]
rs2705350	1.00[EUR][1000 genomes]
rs28442188	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28543997	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28608058	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28664278	0.90[AFR][1000 genomes]
rs28762482	0.94[AFR][1000 genomes]
rs28807170	0.94[AFR][1000 genomes]
rs28857572	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28871951	0.94[AFR][1000 genomes]
rs347815	1.00[EUR][1000 genomes]
rs56964418	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57044113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57573060	0.98[AFR][1000 genomes]
rs58198195	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59662878	0.86[AFR][1000 genomes]
rs60708162	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61659679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6495649	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6495650	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6495651	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6495652	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6495653	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6495654	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6495655	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6495656	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6495657	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6495658	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6495659	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7165738	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165973	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7166559	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7167363	0.98[AFR][1000 genomes]
rs7167379	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7168029	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs7168168	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7168361	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7168606	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs7168707	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7169731	0.87[AFR][1000 genomes]
rs7169802	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7170829	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7175327	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7175736	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7175784	1.00[CEU][hapmap]
rs7176138	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7183736	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs8023999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8024424	0.90[AFR][1000 genomes]
rs8024443	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8025075	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8026499	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8029788	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8030737	0.98[AFR][1000 genomes]
rs8032579	0.94[AFR][1000 genomes]
rs8033545	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs8035044	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8035650	0.87[AFR][1000 genomes]
rs8036094	0.92[AFR][1000 genomes]
rs8036323	1.00[CEU][hapmap]
rs8038493	0.98[AFR][1000 genomes]
rs8039356	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8040647	0.89[YRI][hapmap]
rs8042422	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8042605	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9806767	0.90[AFR][1000 genomes]
rs9806778	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9989297	0.96[AFR][1000 genomes];1.00[EUR][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34518000-34571800	Weak transcription	Stomach Mucosa	stomach
2	chr15:34546800-34569400	Weak transcription	Ovary	ovary
3	chr15:34546800-34571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:34546800-34573800	Weak transcription	HUVEC	blood vessel
5	chr15:34547600-34591200	Weak transcription	Aorta	Aorta
6	chr15:34548200-34592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:34549200-34571200	Weak transcription	Left Ventricle	heart
8	chr15:34550000-34587400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr15:34551200-34569400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:34551200-34577000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:34551400-34577200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:34552200-34570800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:34555200-34584200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:34555200-34584600	Weak transcription	Esophagus	oesophagus
16	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
17	chr15:34562400-34584000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:34563000-34569400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr15:34564000-34577000	Weak transcription	Fetal Heart	heart
20	chr15:34564600-34569800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:34565000-34584600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:34565200-34575400	Weak transcription	GM12878-XiMat	blood
23	chr15:34565200-34575600	Weak transcription	Primary B cells from cord blood	blood
24	chr15:34565200-34575600	Weak transcription	Primary T cells from cord blood	blood
25	chr15:34565200-34584600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr15:34565600-34583200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:34566000-34570400	Enhancers	Hela-S3	cervix
28	chr15:34566200-34584600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr15:34566400-34583400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:34566800-34584600	Weak transcription	Liver	Liver
31	chr15:34567200-34569200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:34567400-34568800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:34567400-34569000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:34567400-34569000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:34567400-34569200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:34567400-34569200	Enhancers	Osteobl	bone
37	chr15:34567600-34569000	Enhancers	NHDF-Ad	bronchial
38	chr15:34567600-34569600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:34567600-34577200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:34568000-34584600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr15:34568200-34568800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:34568200-34569200	Enhancers	A549	lung
43	chr15:34568200-34584600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:34568400-34571600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:34568600-34569200	Enhancers	Muscle Satellite Cultured Cells	--

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