Variant report

Variant	rs2304764
Chromosome Location	chr8:95547119-95547120
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95546560..95549138-chr8:95553073..95555692,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10104041	0.93[ASN][1000 genomes]
rs10111287	0.93[ASN][1000 genomes]
rs1023767	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1048029	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1055800	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956915	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956919	0.91[ASN][1000 genomes]
rs11986009	0.93[ASN][1000 genomes]
rs11992893	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540967	0.91[ASN][1000 genomes]
rs12541408	0.91[ASN][1000 genomes]
rs12543207	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12543730	0.91[ASN][1000 genomes]
rs12678305	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12679345	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12680842	0.91[ASN][1000 genomes]
rs12680855	0.91[ASN][1000 genomes]
rs12680965	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12681564	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1470153	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16916874	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16916881	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1992370	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2381882	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2381885	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28729295	0.93[ASN][1000 genomes]
rs28817653	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4269508	0.86[EUR][1000 genomes]
rs4366055	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4373498	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4735297	0.90[ASN][1000 genomes]
rs55897841	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56042558	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56302978	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56716157	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60655325	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72674832	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72674843	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72674852	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72674855	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72674861	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72674866	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72674867	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72674877	0.91[ASN][1000 genomes]
rs7829886	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs957447	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs957448	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[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
rs2304764	KIAA1429	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 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	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:95516800-95554600	Strong transcription	Fetal Thymus	thymus
6	chr8:95520400-95555200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:95520600-95552400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:95527600-95548600	Strong transcription	Fetal Muscle Leg	muscle
9	chr8:95532800-95558800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:95535400-95556000	Weak transcription	Fetal Heart	heart
11	chr8:95535800-95549800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:95535800-95555600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:95536000-95555600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:95536200-95549200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:95536400-95552200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:95536600-95557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:95536800-95549800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr8:95536800-95550600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr8:95536800-95551400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:95536800-95552400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:95536800-95556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:95537000-95547800	Strong transcription	Brain Anterior Caudate	brain
23	chr8:95537000-95548000	Strong transcription	Thymus	Thymus
24	chr8:95537000-95548400	Strong transcription	Brain Hippocampus Middle	brain
25	chr8:95537000-95548400	Strong transcription	Hela-S3	cervix
26	chr8:95537000-95549000	Strong transcription	GM12878-XiMat	blood
27	chr8:95537000-95549400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:95537000-95550600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:95537000-95550600	Strong transcription	Fetal Lung	lung
30	chr8:95537000-95550800	Strong transcription	Dnd41	blood
31	chr8:95537000-95551000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:95537000-95552000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:95537000-95552200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:95537000-95552400	Strong transcription	Primary B cells from cord blood	blood
35	chr8:95537000-95552400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:95537000-95552400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:95537000-95552400	Strong transcription	Adipose Nuclei	Adipose
38	chr8:95537000-95552400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr8:95537000-95552400	Strong transcription	Placenta	Placenta
40	chr8:95537000-95552600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:95537000-95552600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:95537000-95552600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:95537000-95553400	Strong transcription	Liver	Liver
44	chr8:95537000-95557400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr8:95537000-95558600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr8:95537200-95551600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr8:95537200-95552200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:95537200-95552200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:95537200-95552200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:95537200-95554800	Strong transcription	Fetal Intestine Large	intestine

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