Variant report

Variant	rs10131369
Chromosome Location	chr14:39594378-39594379
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	chr14:39591967..39594442-chr14:39615758..39618049,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1002193	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10129762	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10134166	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10134656	0.82[AMR][1000 genomes]
rs10135561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10136637	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10140763	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10141079	0.82[AMR][1000 genomes]
rs10141081	0.82[AMR][1000 genomes]
rs10141924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10142117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10142350	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145417	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145476	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10146176	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10148712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10150756	0.82[AMR][1000 genomes]
rs10151124	0.83[AMR][1000 genomes]
rs10483543	0.91[AMR][1000 genomes]
rs1050136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11622731	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622968	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11623907	0.82[AMR][1000 genomes]
rs11623945	0.82[AMR][1000 genomes]
rs11624584	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625689	0.82[AMR][1000 genomes]
rs11626002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627264	0.82[AMR][1000 genomes]
rs11628564	0.82[AMR][1000 genomes]
rs11628784	0.80[CEU][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11845793	0.82[AMR][1000 genomes]
rs11848067	0.82[AMR][1000 genomes]
rs11849209	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11850579	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11851680	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12323565	0.82[AMR][1000 genomes]
rs12587208	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13379129	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17092044	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17092050	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17108596	0.82[AMR][1000 genomes]
rs17108696	0.82[AMR][1000 genomes]
rs17108948	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2025061	0.82[AMR][1000 genomes]
rs2144528	0.82[AMR][1000 genomes]
rs2273592	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2277458	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs28414518	0.82[AMR][1000 genomes]
rs28437577	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28470602	0.82[AMR][1000 genomes]
rs28501673	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28583114	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28666016	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28701960	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28821293	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs45622837	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55672305	0.82[AMR][1000 genomes]
rs55737943	0.82[AMR][1000 genomes]
rs56064304	0.82[AMR][1000 genomes]
rs56105133	0.82[AMR][1000 genomes]
rs57326310	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57482489	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57555422	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58601678	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59465524	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7144625	0.82[AMR][1000 genomes]
rs7155307	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156264	0.82[CHB][hapmap]
rs7159520	0.82[AMR][1000 genomes]
rs74048710	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74048711	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs761805	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018720	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs8019396	0.82[AMR][1000 genomes]
rs926970	0.82[AMR][1000 genomes]
rs926971	0.82[JPT][hapmap]
rs993675	0.82[AMR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10131369	SS18	cis	Temporal Cortex	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39595000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
4	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
5	chr14:39584200-39610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
7	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
9	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
10	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
11	chr14:39584600-39597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:39584600-39597800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:39584600-39597800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:39584600-39603600	Weak transcription	K562	blood
15	chr14:39584600-39604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:39584600-39609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:39585200-39608200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:39585800-39594600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:39585800-39595000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:39585800-39608200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:39586000-39594800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:39586000-39595000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:39586000-39595000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:39586000-39595600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:39586000-39608000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:39586000-39608400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:39586000-39608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:39586000-39608800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:39586200-39598600	Strong transcription	Dnd41	blood
31	chr14:39586600-39599800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:39586600-39610600	Strong transcription	HepG2	liver
33	chr14:39586800-39594800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:39586800-39594800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:39586800-39595200	Strong transcription	Fetal Thymus	thymus
36	chr14:39586800-39599400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr14:39587000-39595800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr14:39587000-39596400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:39587200-39594800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:39587200-39595000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr14:39587200-39609600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:39587400-39594600	Strong transcription	Liver	Liver
43	chr14:39587400-39595400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr14:39587400-39598600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr14:39587400-39608400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:39587600-39594800	Strong transcription	GM12878-XiMat	blood
47	chr14:39587600-39596000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr14:39587600-39597000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:39587600-39598600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr14:39587600-39607800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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