Variant report

Variant	rs2228708
Chromosome Location	chr14:56636761-56636762
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10152004	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs1023120	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1028973	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1152464	0.91[JPT][hapmap]
rs1152466	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs1152478	0.90[JPT][hapmap]
rs1152479	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12589933	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1382974	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap]
rs1382977	0.90[JPT][hapmap]
rs17091062	1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[EUR][1000 genomes]
rs17091112	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17091123	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs17091196	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs2297610	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs242581	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3783659	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs385141	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs3898605	0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs4636823	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4901649	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs6573085	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7141484	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7141889	0.95[ASN][1000 genomes]
rs7141949	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7143560	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs7152487	0.91[JPT][hapmap]
rs7161103	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs7161274	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap]
rs754314	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs8011852	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap]
rs8014574	0.84[CHB][hapmap];1.00[JPT][hapmap]

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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56615600-56639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:56616800-56640200	Weak transcription	Fetal Stomach	stomach
3	chr14:56621400-56637600	Weak transcription	Small Intestine	intestine
4	chr14:56627200-56645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:56632200-56638000	Enhancers	Dnd41	blood
6	chr14:56633200-56638800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:56633800-56640200	Weak transcription	Brain Germinal Matrix	brain
8	chr14:56633800-56645000	Weak transcription	Primary B cells from cord blood	blood
9	chr14:56634200-56638800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:56634400-56639200	Enhancers	Fetal Thymus	thymus
11	chr14:56634400-56644200	Enhancers	Pancreas	Pancrea
12	chr14:56634600-56638600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:56634600-56638800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:56634800-56638400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:56634800-56638800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:56634800-56638800	Weak transcription	Brain Substantia Nigra	brain
17	chr14:56634800-56639000	Weak transcription	Adipose Nuclei	Adipose
18	chr14:56635000-56638000	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:56635000-56638400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:56635000-56638400	Weak transcription	Gastric	stomach
21	chr14:56635000-56638800	Weak transcription	Brain Anterior Caudate	brain
22	chr14:56635000-56638800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr14:56635000-56654600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:56635200-56638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:56635400-56638200	Weak transcription	Esophagus	oesophagus
26	chr14:56635600-56640400	Enhancers	Stomach Mucosa	stomach
27	chr14:56635600-56647200	Weak transcription	Ovary	ovary
28	chr14:56635800-56637000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:56635800-56643800	Weak transcription	Fetal Brain Female	brain
30	chr14:56636000-56636800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:56636000-56638800	Weak transcription	Spleen	Spleen
32	chr14:56636000-56639000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:56636000-56640800	Enhancers	Primary T cells from cord blood	blood
34	chr14:56636200-56637000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr14:56636200-56637200	Weak transcription	Fetal Intestine Small	intestine
36	chr14:56636200-56638200	Weak transcription	Lung	lung
37	chr14:56636200-56638800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:56636400-56636800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:56636400-56636800	Weak transcription	Left Ventricle	heart
40	chr14:56636400-56637600	Enhancers	Thymus	Thymus
41	chr14:56636400-56638200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:56636400-56638800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr14:56636400-56639000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:56636600-56636800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:56636600-56636800	Enhancers	Placenta	Placenta
46	chr14:56636600-56637000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr14:56636600-56637000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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