Variant report

Variant	rs1470153
Chromosome Location	chr8:95526815-95526816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95525305..95527229-chr8:95557252..95559789,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212997	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10104041	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10111287	0.98[ASN][1000 genomes]
rs1023767	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1048029	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055800	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956915	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956919	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11986009	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11992893	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540967	0.97[ASN][1000 genomes]
rs12541408	0.97[ASN][1000 genomes]
rs12543207	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12543730	0.97[ASN][1000 genomes]
rs12678305	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679345	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12680842	0.96[ASN][1000 genomes]
rs12680855	0.96[ASN][1000 genomes]
rs12680965	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12681564	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16916874	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916881	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1992370	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304764	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2381882	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2381885	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28729295	0.99[ASN][1000 genomes]
rs28817653	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4269508	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4366055	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4373498	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735297	0.95[ASN][1000 genomes]
rs55897841	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56042558	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56302978	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56716157	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60655325	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72674832	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72674843	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674852	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674855	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674861	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72674866	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72674867	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72674877	0.97[ASN][1000 genomes]
rs7829886	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs957447	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957448	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1470153	KIAA1429	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
4	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:95499400-95533400	Strong transcription	Placenta	Placenta
7	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:95501200-95541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:95511000-95527400	Weak transcription	Pancreas	Pancrea
10	chr8:95511200-95527400	Weak transcription	Gastric	stomach
11	chr8:95511200-95530600	Weak transcription	Aorta	Aorta
12	chr8:95512600-95527800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:95513600-95530000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:95515000-95527600	Weak transcription	Ovary	ovary
15	chr8:95515600-95534200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:95516200-95534000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:95516800-95554600	Strong transcription	Fetal Thymus	thymus
18	chr8:95517200-95530400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:95517400-95527600	Weak transcription	Spleen	Spleen
20	chr8:95517400-95528000	Weak transcription	Right Ventricle	heart
21	chr8:95517600-95538600	Weak transcription	Fetal Brain Male	brain
22	chr8:95517600-95540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:95518000-95530600	Weak transcription	Small Intestine	intestine
24	chr8:95518000-95534000	Weak transcription	Psoas Muscle	Psoas
25	chr8:95518800-95534000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:95519000-95527600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:95519000-95530400	Weak transcription	Fetal Heart	heart
28	chr8:95520400-95529000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr8:95520400-95530400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:95520400-95532200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:95520400-95532400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:95520400-95532800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:95520400-95532800	Strong transcription	Fetal Intestine Large	intestine
34	chr8:95520400-95534600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:95520400-95534800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:95520400-95534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:95520400-95535000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:95520400-95535000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr8:95520400-95555200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:95520600-95527400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:95520600-95527800	Strong transcription	Primary T cells from cord blood	blood
42	chr8:95520600-95528400	Strong transcription	Adipose Nuclei	Adipose
43	chr8:95520600-95528400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:95520600-95528800	Strong transcription	Fetal Lung	lung
45	chr8:95520600-95532200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr8:95520600-95534400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr8:95520600-95534600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:95520600-95536000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr8:95520600-95552400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:95520800-95527800	Strong transcription	Primary B cells from cord blood	blood

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