Variant report

Variant	rs73259409
Chromosome Location	chr8:61451750-61451751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61440745..61443424-chr8:61450205..61452347,2	MCF-7	breast:
2	chr8:61430121..61431821-chr8:61449801..61452122,2	K562	blood:
3	chr8:61446080..61449984-chr8:61450187..61453162,6	K562	blood:
4	chr8:61445869..61450091-chr8:61450711..61454496,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs16926265	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926273	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56957672	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57207257	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57310966	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58443130	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58486252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58847436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58916286	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933078	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59531479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60075768	1.00[EUR][1000 genomes]
rs60448147	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60730808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60880721	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61277001	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61514087	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990951	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003631	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018346	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243809	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255451	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257441	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257447	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257453	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257469	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257475	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257492	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259412	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259441	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259444	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259456	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259478	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259486	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261229	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261232	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261235	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261240	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261257	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261277	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826092	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846100	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking 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	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
2	chr8:61434600-61467600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
4	chr8:61434800-61452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:61434800-61458000	Weak transcription	Dnd41	blood
6	chr8:61434800-61480600	Weak transcription	HMEC	breast
7	chr8:61435400-61470800	Weak transcription	NHEK	skin
8	chr8:61435400-61471800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:61437200-61462600	Weak transcription	NH-A	brain
10	chr8:61437400-61463200	Weak transcription	HSMM	muscle
11	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
12	chr8:61438400-61469600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:61439000-61453000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:61439400-61455800	Weak transcription	Fetal Thymus	thymus
15	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:61440800-61480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:61443800-61472800	Weak transcription	Thymus	Thymus
18	chr8:61444000-61462800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:61444800-61453400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:61446000-61462400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:61446800-61455400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:61446800-61459200	Weak transcription	Fetal Intestine Large	intestine
23	chr8:61447400-61453800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:61447400-61463600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:61447400-61466800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:61447600-61452000	Weak transcription	Primary T cells from cord blood	blood
27	chr8:61447600-61462800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:61447600-61465400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:61447600-61469200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:61447600-61472600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:61447800-61466600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:61447800-61466800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:61448000-61457600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:61448000-61457600	Weak transcription	K562	blood
35	chr8:61448200-61451800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr8:61448200-61455600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:61448400-61453400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:61448400-61453600	Weak transcription	NHLF	lung
39	chr8:61448600-61452400	Weak transcription	Primary B cells from cord blood	blood
40	chr8:61448600-61453600	Weak transcription	Brain Angular Gyrus	brain
41	chr8:61448600-61465200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:61448600-61465800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:61448800-61462200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:61449000-61473800	Weak transcription	HSMMtube	muscle
46	chr8:61449400-61451800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:61449400-61458200	Weak transcription	NHDF-Ad	bronchial
48	chr8:61449400-61472800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:61449600-61462000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:61449600-61466200	Weak transcription	Fetal Lung	lung

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