Variant report

Variant	rs58443130
Chromosome Location	chr8:61436245-61436246
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61434949..61437571-chr8:61440518..61442116,2	K562	blood:
2	chr8:61429552..61431450-chr8:61433854..61436279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104388	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56957672	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57207257	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57310966	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58486252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58847436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58916286	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933078	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	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61514087	0.99[AFR][1000 genomes];1.00[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243809	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]
rs73257492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259409	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259478	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259486	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261229	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261235	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261240	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261257	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261277	0.94[AFR][1000 genomes];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[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846100	0.93[AFR][1000 genomes];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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61431000-61436600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:61431000-61438200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:61431200-61438200	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:61431600-61438200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:61431600-61441600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr8:61431800-61446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:61432000-61437600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:61432000-61439200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:61432000-61440200	Enhancers	Liver	Liver
10	chr8:61432200-61436600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:61432200-61437800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr8:61432600-61436600	Weak transcription	Fetal Brain Male	brain
13	chr8:61432600-61436600	Weak transcription	Fetal Stomach	stomach
14	chr8:61432600-61437400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr8:61432600-61442600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:61432600-61443000	Weak transcription	Thymus	Thymus
17	chr8:61432600-61446600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:61432800-61436400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:61432800-61437400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:61432800-61437800	Enhancers	Osteobl	bone
21	chr8:61432800-61444000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:61433000-61437000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:61433000-61438400	Enhancers	Fetal Heart	heart
24	chr8:61433200-61436600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:61433200-61436800	Weak transcription	Fetal Brain Female	brain
26	chr8:61433200-61441600	Enhancers	Adipose Nuclei	Adipose
27	chr8:61433400-61438000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:61433600-61436600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:61433600-61436600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:61433600-61436800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:61433600-61438800	Weak transcription	Fetal Thymus	thymus
32	chr8:61433800-61436600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:61433800-61436800	Weak transcription	Aorta	Aorta
34	chr8:61433800-61437000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:61433800-61446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
37	chr8:61434000-61436600	Weak transcription	Brain Germinal Matrix	brain
38	chr8:61434000-61437200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:61434000-61438400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:61434000-61447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:61434200-61437800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:61434400-61436400	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:61434400-61438200	Enhancers	Primary T cells from cord blood	blood
44	chr8:61434400-61438400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:61434600-61436600	Weak transcription	Fetal Intestine Small	intestine
46	chr8:61434600-61438200	Enhancers	Stomach Mucosa	stomach
47	chr8:61434600-61439200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:61434600-61467600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
50	chr8:61434800-61436400	Weak transcription	Brain Inferior Temporal Lobe	brain

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