Variant report

Variant	rs2575692
Chromosome Location	chr8:104389372-104389373
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104382282..104385358-chr8:104387344..104390689,3	K562	blood:
2	chr8:104380544..104384762-chr8:104386449..104389451,3	K562	blood:
3	chr8:104311011..104313390-chr8:104387809..104389665,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164932	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1061195	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1095723	0.95[ASN][1000 genomes]
rs1095725	0.95[ASN][1000 genomes]
rs11780843	0.82[ASN][1000 genomes]
rs1370005	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1370006	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1436595	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs1436598	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1436599	0.91[JPT][hapmap]
rs1865853	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1865854	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1865855	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs2082971	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2118057	0.96[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2241777	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2241778	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2304501	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2388720	0.91[JPT][hapmap]
rs2437762	0.95[ASN][1000 genomes]
rs2575691	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2575693	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2575694	0.96[ASN][1000 genomes]
rs2575697	0.95[ASN][1000 genomes]
rs2575699	0.95[ASN][1000 genomes]
rs2575700	0.81[AMR][1000 genomes]
rs2687348	0.89[ASN][1000 genomes]
rs2687350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687359	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2687360	0.81[AMR][1000 genomes]
rs2687363	0.95[ASN][1000 genomes]
rs2687364	0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2917549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917551	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2948446	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2948452	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098214	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3098215	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3098217	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3098218	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs3098219	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs3098220	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3098221	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3098222	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3098223	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3098224	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3098225	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3098227	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3098233	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3098236	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3098237	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs3098241	0.84[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs3098242	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3098243	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3098244	0.81[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs3098245	0.81[ASN][1000 genomes]
rs3098248	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3098249	0.82[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs3098250	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3098255	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs3098256	0.84[ASN][1000 genomes]
rs3098257	0.87[ASN][1000 genomes]
rs3098258	0.87[ASN][1000 genomes]
rs3098259	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3098260	0.81[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs3133804	0.83[ASN][1000 genomes]
rs3133807	0.87[ASN][1000 genomes]
rs3133809	0.84[ASN][1000 genomes]
rs3133811	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133813	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3133814	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3133815	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3133816	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3133817	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3134250	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3134251	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3134253	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3134254	0.84[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs3134255	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3134258	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3134261	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3134262	0.81[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs3134265	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3134266	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3134267	0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3134270	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3134271	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3134273	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3134275	0.95[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3134277	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3134278	0.91[JPT][hapmap]
rs3134279	0.81[ASN][1000 genomes]
rs3134281	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3134282	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3134285	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3134286	0.81[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs3134287	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs3134290	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3134292	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3134293	0.81[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs3134295	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs3134296	0.91[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs3134297	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4734699	0.92[ASN][1000 genomes]
rs4734700	0.95[ASN][1000 genomes]
rs7009159	0.82[ASN][1000 genomes]
rs7465574	0.93[ASN][1000 genomes]
rs750606	0.84[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7816297	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs827592	0.82[ASN][1000 genomes]
rs827595	0.95[ASN][1000 genomes]
rs827596	0.81[AMR][1000 genomes]
rs827598	0.81[AMR][1000 genomes]
rs844138	0.95[ASN][1000 genomes]
rs975440	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2575692	DCAF13	cis	Muscle Skeletal	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104384200-104394800	Weak transcription	GM12878-XiMat	blood
2	chr8:104384200-104399800	Weak transcription	Primary T cells from cord blood	blood
3	chr8:104384400-104412200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:104384600-104409400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:104384600-104418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:104384800-104392600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:104385000-104399000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:104385000-104408800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:104385000-104415600	Weak transcription	Placenta	Placenta
10	chr8:104385400-104400400	Weak transcription	A549	lung
11	chr8:104385600-104389600	Weak transcription	Fetal Brain Male	brain
12	chr8:104385600-104399200	Weak transcription	Fetal Stomach	stomach
13	chr8:104385600-104399800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:104385600-104400200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:104385600-104400200	Weak transcription	Fetal Thymus	thymus
16	chr8:104385600-104400600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:104385600-104405400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:104385600-104408400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:104385600-104423600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:104385600-104424600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:104385800-104393400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:104385800-104399800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:104385800-104409000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:104385800-104409000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:104386000-104395600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:104386000-104399800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:104386000-104399800	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:104386000-104400200	Weak transcription	Dnd41	blood
29	chr8:104386000-104400600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:104386000-104409800	Weak transcription	NHLF	lung
31	chr8:104386000-104418600	Weak transcription	Aorta	Aorta
32	chr8:104386000-104425600	Weak transcription	HSMMtube	muscle
33	chr8:104386200-104405600	Weak transcription	HUVEC	blood vessel
34	chr8:104387000-104399800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:104387800-104389400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:104388000-104389600	Enhancers	HMEC	breast
37	chr8:104388200-104391600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:104388200-104392400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:104388200-104412200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:104388400-104389600	Enhancers	NHEK	skin
41	chr8:104388600-104392800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:104388800-104389400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:104388800-104393200	Strong transcription	Osteobl	bone
44	chr8:104388800-104393800	Strong transcription	NH-A	brain
45	chr8:104389000-104389400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:104389000-104389400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:104389000-104391000	Strong transcription	HSMM	muscle
48	chr8:104389000-104399200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:104389000-104399800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:104389000-104400400	Weak transcription	NHDF-Ad	bronchial

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