Variant report

Variant	rs3133815
Chromosome Location	chr8:104422854-104422855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104403139..104408438-chr8:104419869..104423025,6	K562	blood:
2	chr8:104414588..104416158-chr8:104422288..104424802,2	MCF-7	breast:
3	chr8:103861529..103864415-chr8:104420889..104423111,2	K562	blood:

Variant related genes	Relation type
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1061195	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11780843	0.82[ASN][1000 genomes]
rs12677876	0.95[ASN][1000 genomes]
rs1370005	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1370006	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1436595	0.92[ASN][1000 genomes]
rs1436597	0.88[ASN][1000 genomes]
rs1436598	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1436599	0.89[ASN][1000 genomes]
rs16870396	0.98[ASN][1000 genomes]
rs1865853	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1865854	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2082971	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2241777	0.90[ASN][1000 genomes]
rs2241778	0.89[ASN][1000 genomes]
rs2304501	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2388720	0.89[ASN][1000 genomes]
rs2575692	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2687348	0.84[ASN][1000 genomes]
rs2687350	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2917549	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2917551	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2948452	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3098212	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3098214	0.89[ASN][1000 genomes]
rs3098215	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098217	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3098218	0.92[ASN][1000 genomes]
rs3098219	0.93[ASN][1000 genomes]
rs3098220	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098221	0.92[ASN][1000 genomes]
rs3098222	0.93[ASN][1000 genomes]
rs3098223	0.93[ASN][1000 genomes]
rs3098224	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098225	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098227	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098233	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098236	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098237	0.94[ASN][1000 genomes]
rs3098240	0.91[ASN][1000 genomes]
rs3098241	0.99[ASN][1000 genomes]
rs3098242	0.95[ASN][1000 genomes]
rs3098244	0.99[ASN][1000 genomes]
rs3098245	0.99[ASN][1000 genomes]
rs3098248	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098249	0.90[ASN][1000 genomes]
rs3098250	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098255	0.89[ASN][1000 genomes]
rs3098256	0.89[ASN][1000 genomes]
rs3098257	0.92[ASN][1000 genomes]
rs3098258	0.92[ASN][1000 genomes]
rs3098259	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098260	0.93[ASN][1000 genomes]
rs3133804	0.90[ASN][1000 genomes]
rs3133807	0.92[ASN][1000 genomes]
rs3133809	0.89[ASN][1000 genomes]
rs3133811	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133813	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133814	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133816	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133817	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133819	0.95[ASN][1000 genomes]
rs3134250	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134251	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3134253	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134254	0.98[ASN][1000 genomes]
rs3134255	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134258	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134261	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134262	0.99[ASN][1000 genomes]
rs3134264	0.94[ASN][1000 genomes]
rs3134265	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134266	0.95[ASN][1000 genomes]
rs3134267	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134270	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134271	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134272	0.93[ASN][1000 genomes]
rs3134273	0.90[ASN][1000 genomes]
rs3134275	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134277	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134278	0.90[ASN][1000 genomes]
rs3134279	0.99[ASN][1000 genomes]
rs3134280	0.89[ASN][1000 genomes]
rs3134281	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3134282	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3134285	0.95[ASN][1000 genomes]
rs3134286	0.99[ASN][1000 genomes]
rs3134287	0.95[ASN][1000 genomes]
rs3134289	0.95[ASN][1000 genomes]
rs3134290	0.95[ASN][1000 genomes]
rs3134291	0.95[ASN][1000 genomes]
rs3134292	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134293	0.99[ASN][1000 genomes]
rs3134295	0.95[ASN][1000 genomes]
rs3134296	0.99[ASN][1000 genomes]
rs3134297	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750606	0.99[ASN][1000 genomes]
rs7816297	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs893044	0.93[ASN][1000 genomes]
rs975440	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
13	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3133815	DCAF13	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104385600-104423600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:104385600-104424600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:104386000-104425600	Weak transcription	HSMMtube	muscle
4	chr8:104393200-104423600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:104400000-104426000	Weak transcription	Stomach Mucosa	stomach
6	chr8:104400200-104425600	Weak transcription	Colonic Mucosa	Colon
7	chr8:104401600-104426600	Weak transcription	Esophagus	oesophagus
8	chr8:104404200-104425400	Weak transcription	Brain Angular Gyrus	brain
9	chr8:104404200-104426600	Weak transcription	Pancreas	Pancrea
10	chr8:104404400-104425000	Weak transcription	Fetal Brain Female	brain
11	chr8:104404600-104423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:104405800-104426600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:104405800-104426600	Weak transcription	Gastric	stomach
14	chr8:104406800-104424800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:104407400-104425200	Weak transcription	Fetal Brain Male	brain
16	chr8:104409000-104423000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:104409400-104425200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:104410000-104423600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:104410400-104423600	Weak transcription	Fetal Intestine Small	intestine
20	chr8:104410400-104425400	Weak transcription	Right Ventricle	heart
21	chr8:104410600-104425400	Weak transcription	Right Atrium	heart
22	chr8:104410800-104424600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:104411000-104425200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:104411600-104425000	Weak transcription	NHLF	lung
25	chr8:104412200-104425200	Weak transcription	Brain Germinal Matrix	brain
26	chr8:104413200-104425600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:104413800-104425400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:104413800-104425400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:104413800-104425800	Weak transcription	Fetal Kidney	kidney
30	chr8:104414000-104423600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:104414000-104424800	Weak transcription	NHEK	skin
32	chr8:104414400-104423800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:104414600-104423800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:104416000-104423800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:104416000-104424600	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:104416000-104425800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:104417000-104426400	Weak transcription	Placenta	Placenta
38	chr8:104417200-104425000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:104417400-104425400	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:104417400-104426400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:104417800-104424600	Weak transcription	Adipose Nuclei	Adipose
42	chr8:104418200-104424800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:104418800-104424800	Weak transcription	HSMM	muscle
44	chr8:104418800-104425200	Weak transcription	Fetal Intestine Large	intestine
45	chr8:104418800-104426400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:104419000-104423000	Weak transcription	A549	lung
47	chr8:104419000-104423400	Weak transcription	NH-A	brain
48	chr8:104419000-104423600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:104419000-104423600	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:104419000-104423600	Weak transcription	Psoas Muscle	Psoas

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