Variant report

Variant	rs73279767
Chromosome Location	chr8:100022985-100022986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr8:100022840-100023158	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:
2	chr8:99951388..99953620-chr8:100021426..100022985,2	K562	blood:
3	chr8:99717164..99718794-chr8:100022848..100024966,2	K562	blood:
4	chr8:100000931..100003067-chr8:100022088..100023611,2	K562	blood:
5	chr8:100013186..100018258-chr8:100022769..100026424,8	MCF-7	breast:
6	chr8:100021568..100024441-chr8:100255336..100257958,2	MCF-7	breast:

No data

Variant related genes	Relation type
VPS13B	TF binding region
ENSG00000271930	Chromatin interaction
ENSG00000253180	Chromatin interaction
ENSG00000164920	Chromatin interaction
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs4585723	1.00[AMR][1000 genomes]
rs58433985	1.00[AMR][1000 genomes]
rs60588461	1.00[AMR][1000 genomes]
rs6982060	1.00[AMR][1000 genomes]
rs6999016	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277822	1.00[AMR][1000 genomes]
rs73277859	1.00[AMR][1000 genomes]
rs73277866	1.00[AMR][1000 genomes]
rs73277869	1.00[AMR][1000 genomes]
rs73277870	1.00[AMR][1000 genomes]
rs73277872	1.00[AMR][1000 genomes]
rs73277876	1.00[AMR][1000 genomes]
rs73277884	1.00[AMR][1000 genomes]
rs73277895	1.00[AMR][1000 genomes]
rs73277897	1.00[AMR][1000 genomes]
rs73279716	1.00[AMR][1000 genomes]
rs73279717	1.00[AMR][1000 genomes]
rs73279718	1.00[AMR][1000 genomes]
rs73279721	1.00[AMR][1000 genomes]
rs73279722	1.00[AMR][1000 genomes]
rs73279723	1.00[AMR][1000 genomes]
rs73279736	1.00[AMR][1000 genomes]
rs73279739	1.00[AMR][1000 genomes]
rs73279749	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279752	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279757	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281614	1.00[AMR][1000 genomes]
rs73281620	1.00[AMR][1000 genomes]
rs73281629	1.00[AMR][1000 genomes]
rs73281632	1.00[AMR][1000 genomes]
rs73281661	1.00[AMR][1000 genomes]
rs73281671	1.00[AMR][1000 genomes]
rs73281672	1.00[AMR][1000 genomes]
rs73281685	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281686	1.00[AMR][1000 genomes]
rs73281692	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281693	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281695	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285919	1.00[AMR][1000 genomes]
rs7818030	1.00[AMR][1000 genomes]
rs7826107	1.00[AMR][1000 genomes]
rs7829755	1.00[AMR][1000 genomes]
rs7841627	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99987200-100024200	Weak transcription	Osteobl	bone
2	chr8:100003400-100023400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:100006600-100024000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:100007000-100023800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:100007000-100024200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:100007200-100023000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:100007200-100023600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:100007200-100024000	Weak transcription	Ovary	ovary
9	chr8:100007200-100024400	Weak transcription	Aorta	Aorta
10	chr8:100008600-100024000	Weak transcription	NHLF	lung
11	chr8:100012000-100023000	Weak transcription	Liver	Liver
12	chr8:100012000-100023200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:100012200-100023800	Weak transcription	HSMM	muscle
14	chr8:100012400-100023400	Weak transcription	Fetal Lung	lung
15	chr8:100014200-100023000	Weak transcription	Primary B cells from cord blood	blood
16	chr8:100014400-100024200	Weak transcription	Small Intestine	intestine
17	chr8:100014800-100024200	Weak transcription	Psoas Muscle	Psoas
18	chr8:100015000-100023200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:100015000-100023600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:100015000-100023800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr8:100015000-100024000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:100015000-100024200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:100015000-100024200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:100015200-100023000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:100015200-100023200	Weak transcription	Primary T cells from cord blood	blood
26	chr8:100015200-100023200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:100015200-100024000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:100015200-100024000	Weak transcription	Fetal Thymus	thymus
29	chr8:100015200-100024000	Weak transcription	Right Ventricle	heart
30	chr8:100015200-100024200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:100015200-100024200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:100015200-100024200	Weak transcription	Placenta	Placenta
33	chr8:100015200-100024200	Weak transcription	Lung	lung
34	chr8:100015200-100024200	Weak transcription	Pancreas	Pancrea
35	chr8:100015200-100024200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:100015200-100024800	Weak transcription	Spleen	Spleen
37	chr8:100015400-100024000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:100015400-100024000	Weak transcription	Left Ventricle	heart
39	chr8:100015400-100024200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:100015400-100024200	Weak transcription	Fetal Kidney	kidney
41	chr8:100015400-100024200	Weak transcription	Thymus	Thymus
42	chr8:100015800-100023000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:100016000-100023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:100016000-100023800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr8:100016200-100023000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:100016200-100023000	Weak transcription	Dnd41	blood
47	chr8:100016200-100024000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:100016200-100024200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:100016600-100023400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:100016800-100023400	Weak transcription	Primary monocytes fromperipheralblood	blood

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