Variant report

Variant	rs4366055
Chromosome Location	chr8:95507328-95507329
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:95507257-95507369	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95504162..95505667-chr8:95507162..95509158,2	MCF-7	breast:

Variant related genes	Relation type
KIAA1429	TF binding region
ENSG00000164944	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10104041	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10111287	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1023767	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1048029	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1055800	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956915	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956919	0.94[ASN][1000 genomes]
rs11986009	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11992893	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12540967	0.94[ASN][1000 genomes]
rs12541408	0.94[ASN][1000 genomes]
rs12543207	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12543730	0.94[ASN][1000 genomes]
rs12678305	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12679345	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12680842	0.93[ASN][1000 genomes]
rs12680855	0.93[ASN][1000 genomes]
rs12680965	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12681564	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470153	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16916874	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16916881	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1992370	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2304764	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2381882	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2381885	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28729295	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28817653	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4269508	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4373498	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735297	0.92[ASN][1000 genomes]
rs55897841	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56042558	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56302978	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56716157	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60655325	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72674824	0.81[ASN][1000 genomes]
rs72674832	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72674843	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72674852	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72674855	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72674861	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72674866	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72674867	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72674877	0.94[ASN][1000 genomes]
rs7829886	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs957447	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs957448	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4366055	KIAA1429	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95488200-95507800	Weak transcription	NHLF	lung
2	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
5	chr8:95497200-95510600	Weak transcription	Colonic Mucosa	Colon
6	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:95498200-95510200	Weak transcription	Gastric	stomach
8	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:95498800-95509400	Weak transcription	Pancreas	Pancrea
10	chr8:95498800-95512200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:95499200-95511800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:95499200-95512200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:95499200-95512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:95499200-95514400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:95499200-95515200	Strong transcription	Fetal Thymus	thymus
16	chr8:95499200-95519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:95499200-95519000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:95499400-95508800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:95499400-95509200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:95499400-95509400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:95499400-95512200	Strong transcription	Adipose Nuclei	Adipose
22	chr8:95499400-95512200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr8:95499400-95512400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:95499400-95513200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:95499400-95514200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:95499400-95514400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:95499400-95519000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:95499400-95519000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr8:95499400-95533400	Strong transcription	Placenta	Placenta
30	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:95499600-95509000	Strong transcription	Osteobl	bone
32	chr8:95499600-95514600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:95499600-95515400	Strong transcription	Liver	Liver
34	chr8:95499800-95509400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:95499800-95511000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr8:95499800-95512200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:95499800-95512600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr8:95500000-95508400	Strong transcription	GM12878-XiMat	blood
39	chr8:95500000-95509000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:95500000-95509600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:95500200-95508800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:95500200-95509000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:95500200-95509200	Strong transcription	NH-A	brain
44	chr8:95500200-95510000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:95500200-95511800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:95500200-95511800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:95500200-95512000	Strong transcription	Dnd41	blood
48	chr8:95500200-95512200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:95500200-95512200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr8:95500200-95512800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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