Variant report

Variant	rs1263790
Chromosome Location	chr14:21968619-21968620
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	chr14:21965763..21969009-chr14:21976812..21979865,4	K562	blood:
2	chr14:21967474..21971361-chr14:22024015..22027387,4	K562	blood:

Variant related genes	Relation type
ENSG00000165819	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10141933	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143000	0.85[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1045842	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11156996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263788	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263792	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1263795	0.84[AMR][1000 genomes]
rs1263797	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1263798	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794219	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999139	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs3762160	0.80[ASN][1000 genomes]
rs3762162	1.00[CHD][hapmap];0.87[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.83[ASN][1000 genomes]
rs4144189	0.82[JPT][hapmap]
rs6571843	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571844	0.86[ASN][1000 genomes]
rs6571845	1.00[CHD][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.85[ASN][1000 genomes]
rs6571856	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7151259	0.82[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157961	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159433	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8005163	1.00[CHD][hapmap];0.87[GIH][hapmap];0.94[MEX][hapmap];0.85[ASN][1000 genomes]
rs8013109	0.83[ASN][1000 genomes]
rs9322978	0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv85879	chr14:21965690-21974198	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1263790	PHYHD1	trans	lymphoblastoid	seeQTL
rs1263790	TOX4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21946200-21977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:21946400-21971400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:21947000-21978000	Weak transcription	Fetal Heart	heart
4	chr14:21954600-21972600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:21954800-21971400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:21954800-21972000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:21954800-21972000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr14:21954800-21972200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:21954800-21972200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr14:21954800-21977400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:21955000-21972000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:21955000-21972400	Strong transcription	Fetal Thymus	thymus
13	chr14:21955200-21972000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr14:21955200-21972200	Strong transcription	Liver	Liver
15	chr14:21955200-21972600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:21955400-21971400	Strong transcription	Placenta	Placenta
17	chr14:21955400-21971600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:21955400-21972000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:21955400-21972000	Strong transcription	Fetal Intestine Large	intestine
20	chr14:21955400-21972000	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr14:21955400-21972200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:21955400-21972200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:21955400-21972200	Strong transcription	Brain Anterior Caudate	brain
24	chr14:21955400-21972600	Strong transcription	Dnd41	blood
25	chr14:21955600-21971400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:21955600-21971400	Strong transcription	Fetal Muscle Leg	muscle
27	chr14:21955600-21972000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:21955600-21972000	Strong transcription	Brain Hippocampus Middle	brain
29	chr14:21955600-21972000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr14:21955600-21972000	Strong transcription	Fetal Lung	lung
31	chr14:21955600-21972000	Strong transcription	Fetal Stomach	stomach
32	chr14:21955600-21972000	Strong transcription	Left Ventricle	heart
33	chr14:21955600-21972000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr14:21955600-21972000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:21955600-21972000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:21955600-21972000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr14:21955600-21972000	Strong transcription	Thymus	Thymus
38	chr14:21955600-21972000	Strong transcription	Spleen	Spleen
39	chr14:21955600-21972200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:21955600-21972200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr14:21955600-21972200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:21955600-21977200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:21955800-21972000	Strong transcription	HSMMtube	muscle
44	chr14:21955800-21972200	Strong transcription	Fetal Brain Female	brain
45	chr14:21956000-21972000	Strong transcription	Adipose Nuclei	Adipose
46	chr14:21956800-21972200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:21957000-21972000	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr14:21957400-21971200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:21959000-21972200	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:21960200-21971800	Strong transcription	Brain Cingulate Gyrus	brain

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