Variant report

Variant	rs73257492
Chromosome Location	chr8:61441394-61441395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61434949..61437571-chr8:61440518..61442116,2	K562	blood:
2	chr8:61440745..61443424-chr8:61450205..61452347,2	MCF-7	breast:
3	chr8:61426768..61429374-chr8:61440109..61442608,2	K562	blood:
4	chr8:61429484..61431030-chr8:61439815..61442202,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104388	Chromatin interaction
ENSG00000251396	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs16926265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926273	1.00[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	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57310966	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58443130	1.00[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58916286	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933078	0.86[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	1.00[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	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61277001	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61514087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990951	0.81[AFR][1000 genomes];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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243809	0.94[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	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257447	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257451	0.90[AMR][1000 genomes]
rs73257453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257475	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259409	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259412	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259444	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259478	0.88[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	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261232	0.81[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	0.90[AMR][1000 genomes];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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61431600-61441600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr8:61431800-61446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:61432600-61442600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr8:61432600-61443000	Weak transcription	Thymus	Thymus
5	chr8:61432600-61446600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:61432800-61444000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:61433200-61441600	Enhancers	Adipose Nuclei	Adipose
8	chr8:61433800-61446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
10	chr8:61434000-61447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:61434600-61467600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
13	chr8:61434800-61445000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:61434800-61446000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:61434800-61446600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:61434800-61452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:61434800-61458000	Weak transcription	Dnd41	blood
18	chr8:61434800-61480600	Weak transcription	HMEC	breast
19	chr8:61435400-61445800	Weak transcription	Fetal Intestine Large	intestine
20	chr8:61435400-61470800	Weak transcription	NHEK	skin
21	chr8:61435400-61471800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:61435600-61446600	Weak transcription	A549	lung
23	chr8:61436800-61446600	Weak transcription	Hela-S3	cervix
24	chr8:61436800-61447000	Weak transcription	HepG2	liver
25	chr8:61437000-61445200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:61437000-61450200	Weak transcription	Fetal Stomach	stomach
27	chr8:61437200-61442600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:61437200-61444400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:61437200-61462600	Weak transcription	NH-A	brain
30	chr8:61437400-61447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:61437400-61463200	Weak transcription	HSMM	muscle
32	chr8:61437600-61442000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:61437600-61446800	Weak transcription	NHDF-Ad	bronchial
34	chr8:61437600-61451000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:61437800-61441400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr8:61437800-61442800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:61437800-61446800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:61437800-61447000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:61438000-61445000	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:61438000-61446800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:61438000-61449800	Weak transcription	Aorta	Aorta
42	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
43	chr8:61438200-61445000	Weak transcription	Brain Germinal Matrix	brain
44	chr8:61438200-61446600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:61438200-61450800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:61438400-61441400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:61438400-61441400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr8:61438400-61442600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr8:61438400-61443200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:61438400-61446600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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