Variant report

Variant	rs4598814
Chromosome Location	chr14:35035912-35035913
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35031288..35033834-chr14:35035725..35037363,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10131004	1.00[ASN][1000 genomes]
rs10136826	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10151832	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10220690	0.93[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs10872887	0.97[ASN][1000 genomes]
rs11156850	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap];0.92[ASN][1000 genomes]
rs11620787	0.82[ASN][1000 genomes]
rs12432069	0.93[CHB][hapmap]
rs12432539	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12717240	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12880885	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12883317	0.86[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.84[TSI][hapmap]
rs12891984	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28537636	0.85[ASN][1000 genomes]
rs34612921	0.82[ASN][1000 genomes]
rs4258505	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4304943	0.93[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs4403967	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4612970	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981244	0.93[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs55938117	0.85[ASN][1000 genomes]
rs60370017	0.85[ASN][1000 genomes]
rs7144882	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7146283	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7148910	1.00[ASN][1000 genomes]
rs7149128	0.89[ASN][1000 genomes]
rs7149200	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7151142	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap]
rs7151482	0.86[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap]
rs7151774	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7153635	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap];0.84[TSI][hapmap]
rs7154505	0.86[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.84[TSI][hapmap]
rs7155411	1.00[ASN][1000 genomes]
rs7158783	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72675226	0.85[ASN][1000 genomes]
rs72675236	0.85[ASN][1000 genomes]
rs72675245	0.83[EUR][1000 genomes]
rs7493420	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7493480	0.92[ASN][1000 genomes]
rs8008918	1.00[ASN][1000 genomes]
rs8018552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018701	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018918	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	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4598814	FOXA1	cis	cerebellum	SCAN
rs4598814	EAPP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35017400-35036000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:35024000-35036000	Weak transcription	Esophagus	oesophagus
3	chr14:35024000-35036200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:35024000-35040600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:35024200-35036000	Weak transcription	Right Ventricle	heart
6	chr14:35024200-35036400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:35024200-35039000	Weak transcription	Brain Angular Gyrus	brain
8	chr14:35024200-35041800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:35024200-35046200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:35024400-35036000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:35024400-35036000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:35024400-35036200	Weak transcription	Pancreas	Pancrea
13	chr14:35024400-35037800	Weak transcription	Primary B cells from cord blood	blood
14	chr14:35024400-35038000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:35024400-35038200	Weak transcription	Brain Anterior Caudate	brain
16	chr14:35024400-35040600	Weak transcription	K562	blood
17	chr14:35024400-35053600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:35024400-35056800	Weak transcription	Small Intestine	intestine
19	chr14:35024400-35060600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:35024400-35066200	Weak transcription	Stomach Mucosa	stomach
21	chr14:35024600-35036600	Weak transcription	Hela-S3	cervix
22	chr14:35030600-35036000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:35031400-35042800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:35031400-35047400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:35031400-35052600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:35031400-35073400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr14:35031400-35073400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr14:35031400-35078000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr14:35031600-35036800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:35031600-35037600	Strong transcription	Adipose Nuclei	Adipose
31	chr14:35031600-35038000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:35031600-35039000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr14:35031600-35039200	Strong transcription	Brain Hippocampus Middle	brain
34	chr14:35031600-35043600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:35031600-35044000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr14:35031600-35045000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:35031600-35045200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:35031600-35045200	Strong transcription	Placenta	Placenta
39	chr14:35031600-35047200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:35031600-35049800	Strong transcription	Osteobl	bone
41	chr14:35031600-35050600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:35031600-35055800	Strong transcription	Liver	Liver
43	chr14:35031600-35059600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:35031600-35074000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:35031600-35074000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:35031600-35079400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr14:35031800-35037200	Strong transcription	NHDF-Ad	bronchial
48	chr14:35031800-35039400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:35031800-35043000	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr14:35031800-35044800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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