Variant report

Variant	rs7003121
Chromosome Location	chr8:6599674-6599675
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr8:6599638-6599840	HepG2	liver:	n/a	n/a
2	KAP1	chr8:6599254-6600209	K562	blood:	n/a	n/a
3	IRF3	chr8:6599573-6599866	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:6599306-6599798	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6564522..6566313-chr8:6599567..6601140,2	K562	blood:
2	chr8:6567971..6570094-chr8:6598474..6600229,2	MCF-7	breast:
3	chr8:6591889..6594476-chr8:6597879..6600037,2	K562	blood:
4	chr8:6563873..6566022-chr8:6598968..6601067,2	K562	blood:
5	chr8:6597735..6600061-chr8:6602285..6603916,2	K562	blood:

No data

Variant related genes	Relation type
MIR4659B	TF binding region
AGPAT5	TF binding region
ENSG00000249898	Chromatin interaction
ENSG00000155189	Chromatin interaction
ENSG00000266038	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10454358	1.00[EUR][1000 genomes]
rs10503366	1.00[EUR][1000 genomes]
rs10503367	1.00[EUR][1000 genomes]
rs10503369	1.00[EUR][1000 genomes]
rs11137064	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545527	1.00[EUR][1000 genomes]
rs1425784	0.93[ASN][1000 genomes]
rs1425785	0.93[ASN][1000 genomes]
rs1425786	0.93[ASN][1000 genomes]
rs1469269	1.00[EUR][1000 genomes]
rs1469270	1.00[EUR][1000 genomes]
rs1559747	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17077966	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17078011	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17078066	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1834450	0.93[ASN][1000 genomes]
rs1978547	0.93[ASN][1000 genomes]
rs2059537	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2114060	0.93[ASN][1000 genomes]
rs2162152	0.93[ASN][1000 genomes]
rs2272772	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2277135	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28373026	1.00[EUR][1000 genomes]
rs2911986	0.88[ASN][1000 genomes]
rs2911988	0.93[ASN][1000 genomes]
rs2911990	0.88[ASN][1000 genomes]
rs2912083	0.93[ASN][1000 genomes]
rs2928578	0.83[ASN][1000 genomes]
rs2928583	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2928612	0.88[ASN][1000 genomes]
rs2928614	0.93[ASN][1000 genomes]
rs2928616	0.93[ASN][1000 genomes]
rs2978949	0.83[ASN][1000 genomes]
rs3780084	1.00[EUR][1000 genomes]
rs3780085	1.00[EUR][1000 genomes]
rs3811118	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3811120	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4840574	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4841551	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4841594	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4841654	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4841729	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4841730	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58366914	0.84[AMR][1000 genomes]
rs58725842	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59366445	1.00[EUR][1000 genomes]
rs59623151	1.00[EUR][1000 genomes]
rs60834832	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61622585	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6988650	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6989392	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6996843	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6996864	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6997196	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7016859	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7017416	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7813375	0.93[ASN][1000 genomes]
rs7825937	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7830779	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7830784	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7845315	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs968118	1.00[EUR][1000 genomes]
rs9773764	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription 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	72 gene(s)	inside rSNPs	diseases
9	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv933768	chr8:6482944-6618221	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1030637	chr8:6545498-6669949	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv1034115	chr8:6546984-6665832	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv465436	chr8:6568201-6921404	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv610006	chr8:6568201-6921404	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1031063	chr8:6570354-6622685	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
17	nsv1027883	chr8:6570354-7250368	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
18	nsv1024685	chr8:6575334-6622685	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
19	nsv1034812	chr8:6578390-6920312	Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
20	nsv949532	chr8:6579563-6999220	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription 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	31 gene(s)	inside rSNPs	diseases
21	nsv482865	chr8:6585920-6765111	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
22	nsv1015563	chr8:6596171-6730826	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
23	nsv539432	chr8:6596171-6730826	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6568000-6603400	Weak transcription	Fetal Brain Male	brain
2	chr8:6585800-6615800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:6587200-6604600	Weak transcription	NHEK	skin
4	chr8:6587200-6617000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:6587600-6608000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:6587800-6605200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:6587800-6607400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:6587800-6612000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:6587800-6617000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:6588600-6607400	Weak transcription	Spleen	Spleen
11	chr8:6590400-6604800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:6591000-6602000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:6591000-6602000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:6591000-6604600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:6591000-6605200	Weak transcription	Fetal Brain Female	brain
16	chr8:6591000-6614200	Weak transcription	Left Ventricle	heart
17	chr8:6591000-6617400	Weak transcription	Psoas Muscle	Psoas
18	chr8:6591200-6601800	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:6591200-6602000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:6591200-6602000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:6591200-6602000	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:6591200-6602000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:6591200-6602800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:6591200-6603600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:6591200-6607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:6591200-6607200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:6591200-6614600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:6591200-6625400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:6591400-6603600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:6591400-6607200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:6591400-6607400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:6591400-6618200	Weak transcription	NHDF-Ad	bronchial
33	chr8:6591400-6625000	Weak transcription	NH-A	brain
34	chr8:6591400-6633200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:6591600-6614200	Weak transcription	NHLF	lung
36	chr8:6591600-6616600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:6591600-6618200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:6592600-6625000	Weak transcription	Osteobl	bone
39	chr8:6592800-6599800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:6593000-6600600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:6593000-6600600	Weak transcription	Fetal Stomach	stomach
42	chr8:6593000-6602800	Weak transcription	Placenta	Placenta
43	chr8:6593000-6603600	Weak transcription	Ovary	ovary
44	chr8:6593000-6604200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:6593000-6604600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:6593000-6605200	Weak transcription	Brain Germinal Matrix	brain
47	chr8:6593000-6605800	Weak transcription	Thymus	Thymus
48	chr8:6593000-6607400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:6593000-6607400	Weak transcription	Pancreas	Pancrea
50	chr8:6593000-6622800	Weak transcription	Esophagus	oesophagus

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