Variant report

Variant	rs2242526
Chromosome Location	chr14:21971729-21971730
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21944239..21947571-chr14:21970430..21973821,4	MCF-7	breast:
2	chr14:21851876..21853838-chr14:21970156..21972342,2	MCF-7	breast:
3	chr14:21969916..21972018-chr14:21978032..21980758,3	K562	blood:

Variant related genes	Relation type
ENSG00000165819	Chromatin interaction
ENSG00000260830	Chromatin interaction
ENSG00000092201	Chromatin interaction
ENSG00000129472	Chromatin interaction
ENSG00000092203	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11851342	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1263791	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs1263801	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2282046	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4417466	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7144796	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2242526	RAB2B	cis	Skin Sun Exposed Lower leg	GTEx
rs2242526	METTL3	Cis_1M	lymphoblastoid	RTeQTL
rs2242526	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	chr14:21947000-21978000	Weak transcription	Fetal Heart	heart
3	chr14:21954600-21972600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:21954800-21972000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:21954800-21972000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr14:21954800-21972200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:21954800-21972200	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr14:21954800-21977400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:21955000-21972000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:21955000-21972400	Strong transcription	Fetal Thymus	thymus
11	chr14:21955200-21972000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr14:21955200-21972200	Strong transcription	Liver	Liver
13	chr14:21955200-21972600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:21955400-21972000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:21955400-21972000	Strong transcription	Fetal Intestine Large	intestine
16	chr14:21955400-21972000	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr14:21955400-21972200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:21955400-21972200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:21955400-21972200	Strong transcription	Brain Anterior Caudate	brain
20	chr14:21955400-21972600	Strong transcription	Dnd41	blood
21	chr14:21955600-21972000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:21955600-21972000	Strong transcription	Brain Hippocampus Middle	brain
23	chr14:21955600-21972000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr14:21955600-21972000	Strong transcription	Fetal Lung	lung
25	chr14:21955600-21972000	Strong transcription	Fetal Stomach	stomach
26	chr14:21955600-21972000	Strong transcription	Left Ventricle	heart
27	chr14:21955600-21972000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr14:21955600-21972000	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:21955600-21972000	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:21955600-21972000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr14:21955600-21972000	Strong transcription	Thymus	Thymus
32	chr14:21955600-21972000	Strong transcription	Spleen	Spleen
33	chr14:21955600-21972200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:21955600-21972200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr14:21955600-21972200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:21955600-21977200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:21955800-21972000	Strong transcription	HSMMtube	muscle
38	chr14:21955800-21972200	Strong transcription	Fetal Brain Female	brain
39	chr14:21956000-21972000	Strong transcription	Adipose Nuclei	Adipose
40	chr14:21956800-21972200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:21957000-21972000	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr14:21959000-21972200	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:21960200-21971800	Strong transcription	Brain Cingulate Gyrus	brain
44	chr14:21960200-21972400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:21960400-21972000	Strong transcription	Brain Angular Gyrus	brain
46	chr14:21960400-21972200	Strong transcription	NH-A	brain
47	chr14:21960400-21973400	Strong transcription	HUVEC	blood vessel
48	chr14:21960600-21972000	Strong transcription	Fetal Kidney	kidney
49	chr14:21960600-21972000	Strong transcription	HMEC	breast
50	chr14:21960600-21972200	Strong transcription	Primary B cells from cord blood	blood

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