Variant report

Variant	rs9322992
Chromosome Location	chr14:39505860-39505861
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	chr14:39504261..39505866-chr14:39507926..39509842,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10133797	0.86[CHB][hapmap]
rs10134230	0.81[AMR][1000 genomes]
rs10134654	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10136536	0.86[CHB][hapmap]
rs10137988	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10140341	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10140949	0.81[AMR][1000 genomes]
rs10141255	0.81[AMR][1000 genomes]
rs10141471	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10151683	0.85[CHB][hapmap]
rs1061583	0.86[CHB][hapmap]
rs11157041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050319	0.81[AMR][1000 genomes]
rs12147991	0.86[CHB][hapmap]
rs12164875	0.85[CEU][hapmap]
rs12434847	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12437031	0.90[CEU][hapmap];0.81[CHB][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12437346	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12878139	0.81[AMR][1000 genomes]
rs12878789	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12879229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882868	0.81[AMR][1000 genomes]
rs12883061	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12885242	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12890771	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1555257	0.87[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs17108728	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17108846	0.86[CHB][hapmap]
rs1957064	0.81[AMR][1000 genomes]
rs2415524	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2737721	0.86[CHB][hapmap]
rs2737729	0.87[CHB][hapmap]
rs2753606	0.87[CHB][hapmap]
rs28367031	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28502115	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2869	0.86[CHB][hapmap]
rs28699217	0.89[ASN][1000 genomes]
rs28810420	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34642409	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34676226	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34985331	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35224434	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35287240	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35423721	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35712728	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35807641	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35992529	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36161173	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742354	0.95[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742355	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759545	0.86[CHB][hapmap]
rs4143954	0.86[CHB][hapmap]
rs4902259	0.85[CEU][hapmap];0.87[AMR][1000 genomes]
rs4902308	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902418	0.86[CHB][hapmap]
rs4902431	0.86[CHB][hapmap]
rs4902448	0.86[CHB][hapmap]
rs6571893	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71407775	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147194	0.86[CHB][hapmap]
rs7150092	0.81[AMR][1000 genomes]
rs7151246	0.81[AMR][1000 genomes]
rs7152746	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9743575	0.81[AMR][1000 genomes]
rs975521	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9322992	TRAPPC6B	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39487200-39508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:39495400-39518200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:39495600-39509800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:39495800-39516000	Weak transcription	Stomach Mucosa	stomach
5	chr14:39496000-39514800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:39496000-39520400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:39496600-39507800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:39497400-39506000	Weak transcription	Fetal Heart	heart
9	chr14:39497400-39518000	Strong transcription	HSMM	muscle
10	chr14:39497400-39519200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:39497600-39507600	Weak transcription	Brain Germinal Matrix	brain
12	chr14:39497800-39520400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:39497800-39521200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:39498000-39510000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:39498000-39518400	Strong transcription	Osteobl	bone
16	chr14:39498000-39518600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:39498000-39524200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:39498200-39507600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:39498200-39509400	Weak transcription	Fetal Brain Male	brain
20	chr14:39498200-39510200	Strong transcription	Placenta	Placenta
21	chr14:39498200-39519400	Strong transcription	NH-A	brain
22	chr14:39498200-39524200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr14:39498200-39524400	Strong transcription	Fetal Intestine Large	intestine
24	chr14:39498400-39520000	Strong transcription	HepG2	liver
25	chr14:39498400-39524800	Weak transcription	K562	blood
26	chr14:39498600-39510000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr14:39498600-39518000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:39498600-39519600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:39498600-39524000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:39498600-39524800	Strong transcription	Adipose Nuclei	Adipose
31	chr14:39499000-39507800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr14:39499000-39510200	Strong transcription	NHDF-Ad	bronchial
33	chr14:39499000-39510400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:39499000-39510400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr14:39499000-39510400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr14:39499000-39523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:39499000-39523600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr14:39499000-39524200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr14:39499000-39524800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:39499000-39524800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:39499000-39525000	Strong transcription	Liver	Liver
42	chr14:39499600-39524600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:39499800-39509000	Weak transcription	Brain Substantia Nigra	brain
44	chr14:39500000-39506200	Weak transcription	Brain Angular Gyrus	brain
45	chr14:39500000-39512600	Weak transcription	Aorta	Aorta
46	chr14:39500000-39519800	Weak transcription	Pancreas	Pancrea
47	chr14:39500000-39521000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr14:39500000-39522800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:39500000-39524400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr14:39500000-39524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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