Variant report

Variant	rs72674678
Chromosome Location	chr8:100619052-100619053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100618478..100620334-chr8:100624982..100627041,2	K562	blood:

Variant related genes	Relation type
ENSG00000243254	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1039448	0.83[ASN][1000 genomes]
rs10955213	0.86[ASN][1000 genomes]
rs10955215	0.88[ASN][1000 genomes]
rs11986595	0.93[ASN][1000 genomes]
rs12541387	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12542214	0.88[ASN][1000 genomes]
rs12544095	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12544691	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12550617	0.93[ASN][1000 genomes]
rs12676009	0.92[ASN][1000 genomes]
rs12678012	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12680257	0.84[EUR][1000 genomes]
rs12681244	0.87[ASN][1000 genomes]
rs1386374	0.88[ASN][1000 genomes]
rs1386377	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16897530	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1788152	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1788157	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2035619	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2084556	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2280061	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2510200	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2510204	0.84[EUR][1000 genomes]
rs3099853	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3103102	0.83[ASN][1000 genomes]
rs3134160	0.81[ASN][1000 genomes]
rs3134165	0.80[ASN][1000 genomes]
rs3134169	0.87[ASN][1000 genomes]
rs3134170	0.87[ASN][1000 genomes]
rs4735615	0.88[ASN][1000 genomes]
rs4735619	0.88[ASN][1000 genomes]
rs4735620	0.90[ASN][1000 genomes]
rs4735627	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56174158	0.85[ASN][1000 genomes]
rs57636892	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59375661	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61097926	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6468690	0.88[ASN][1000 genomes]
rs6985574	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs717365	0.88[ASN][1000 genomes]
rs721995	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72674642	0.86[ASN][1000 genomes]
rs72674644	0.90[ASN][1000 genomes]
rs72674651	0.91[ASN][1000 genomes]
rs72674675	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72674676	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72674698	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72676204	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72676222	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7825783	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs965657	0.92[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	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
13	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1033795	chr8:100557344-100666640	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100560400-100619600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:100598400-100620800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:100598400-100622800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:100598400-100631200	Weak transcription	Left Ventricle	heart
5	chr8:100598600-100623400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:100598800-100625000	Weak transcription	Adipose Nuclei	Adipose
7	chr8:100599400-100630800	Weak transcription	Primary T cells from cord blood	blood
8	chr8:100599400-100632400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:100602600-100631200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:100610000-100622000	Weak transcription	Primary B cells from cord blood	blood
11	chr8:100610000-100624000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:100610000-100624400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:100613200-100621400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:100617000-100619600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:100617600-100624200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:100617800-100619400	Enhancers	Osteobl	bone
17	chr8:100618000-100619200	Enhancers	NH-A	brain
18	chr8:100618000-100619400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:100618200-100619200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:100618200-100619200	Enhancers	Fetal Muscle Leg	muscle
21	chr8:100618200-100619400	Enhancers	NHDF-Ad	bronchial
22	chr8:100618400-100619200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:100618400-100619600	Enhancers	Fetal Heart	heart
24	chr8:100618400-100619800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:100618600-100620000	Enhancers	NHLF	lung
26	chr8:100618800-100619200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:100618800-100619200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:100618800-100619400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:100618800-100619800	Enhancers	Small Intestine	intestine
30	chr8:100618800-100621200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:100619000-100619200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:100619000-100619200	Enhancers	Aorta	Aorta
33	chr8:100619000-100619200	Enhancers	Fetal Intestine Large	intestine
34	chr8:100619000-100619400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:100619000-100619400	Enhancers	Colon Smooth Muscle	Colon
36	chr8:100619000-100629600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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