Variant report

Variant	rs73209922
Chromosome Location	chr8:10708509-10708510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10694766..10696620-chr8:10707984..10711858,3	K562	blood:
2	chr8:10698588..10701340-chr8:10707877..10710220,2	MCF-7	breast:
3	chr8:10421700..10424416-chr8:10707916..10710717,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10503409	0.87[EUR][1000 genomes]
rs12155811	0.87[EUR][1000 genomes]
rs12375394	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17720365	0.87[EUR][1000 genomes]
rs17721089	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17776404	0.87[EUR][1000 genomes]
rs17776427	0.87[EUR][1000 genomes]
rs17776497	0.89[EUR][1000 genomes]
rs17776622	0.87[EUR][1000 genomes]
rs17776946	0.87[EUR][1000 genomes]
rs55848210	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56046029	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57348261	0.87[EUR][1000 genomes]
rs58193873	0.87[EUR][1000 genomes]
rs714370	0.87[EUR][1000 genomes]
rs73208766	0.87[EUR][1000 genomes]
rs73208769	0.87[EUR][1000 genomes]
rs73208773	0.86[EUR][1000 genomes]
rs73208775	0.87[EUR][1000 genomes]
rs73208778	0.87[EUR][1000 genomes]
rs73208781	0.87[EUR][1000 genomes]
rs73208782	0.88[EUR][1000 genomes]
rs73208785	0.88[EUR][1000 genomes]
rs73208789	0.87[EUR][1000 genomes]
rs73208790	0.87[EUR][1000 genomes]
rs73208791	0.87[EUR][1000 genomes]
rs73208792	0.87[EUR][1000 genomes]
rs73208793	0.87[EUR][1000 genomes]
rs73208794	0.87[EUR][1000 genomes]
rs73208795	0.87[EUR][1000 genomes]
rs73209913	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73209918	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73209921	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7817252	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7845731	0.88[EUR][1000 genomes]
rs9650659	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10707600-10711600	Bivalent Enhancer	Fetal Brain Male	brain
2	chr8:10707800-10708600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:10707800-10708600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:10707800-10708600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:10707800-10708600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:10707800-10708600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:10707800-10708600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:10707800-10708600	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr8:10707800-10708600	Active TSS	Brain Cingulate Gyrus	brain
10	chr8:10707800-10708600	Active TSS	Brain Substantia Nigra	brain
11	chr8:10707800-10708600	Bivalent Enhancer	Fetal Heart	heart
12	chr8:10707800-10708600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
13	chr8:10707800-10708600	Flanking Active TSS	HMEC	breast
14	chr8:10707800-10708600	Flanking Active TSS	NHEK	skin
15	chr8:10707800-10708800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:10707800-10708800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:10707800-10708800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:10707800-10708800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:10707800-10709000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:10707800-10709000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:10707800-10709200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:10707800-10709200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:10707800-10709400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
24	chr8:10708000-10708600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:10708000-10708600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:10708000-10708600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
27	chr8:10708000-10708600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr8:10708000-10708600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
29	chr8:10708000-10708600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
30	chr8:10708000-10708600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:10708000-10708600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
32	chr8:10708000-10708600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:10708000-10708600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:10708000-10708600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:10708000-10708600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr8:10708000-10708600	Flanking Active TSS	Liver	Liver
37	chr8:10708000-10708600	Active TSS	Colon Smooth Muscle	Colon
38	chr8:10708000-10708600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr8:10708000-10708600	Active TSS	Fetal Kidney	kidney
40	chr8:10708000-10708600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
41	chr8:10708000-10708600	Active TSS	Rectal Smooth Muscle	rectum
42	chr8:10708000-10708600	Active TSS	Right Atrium	heart
43	chr8:10708000-10708600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
44	chr8:10708000-10708600	Active TSS	NHDF-Ad	bronchial
45	chr8:10708000-10708600	Bivalent/Poised TSS	NHLF	lung
46	chr8:10708000-10708800	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr8:10708000-10708800	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr8:10708000-10708800	Active TSS	Osteobl	bone
49	chr8:10708000-10709000	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr8:10708000-10709400	Enhancers	Spleen	Spleen

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