Variant report

Variant	rs2275147
Chromosome Location	chr14:35271874-35271875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr14:35271829-35272104	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000263691	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10129577	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10133537	0.90[ASN][1000 genomes]
rs10147109	0.90[ASN][1000 genomes]
rs10147194	0.83[CEU][hapmap];0.88[YRI][hapmap]
rs1200415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17102745	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1741205	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28628142	0.81[ASN][1000 genomes]
rs28686888	0.81[ASN][1000 genomes]
rs28690092	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28804104	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55909288	0.90[ASN][1000 genomes]
rs56280418	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60293526	1.00[ASN][1000 genomes]
rs60358922	0.85[AFR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66496703	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66935528	1.00[ASN][1000 genomes]
rs67791098	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7148005	0.91[CEU][hapmap]
rs7148739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs799672	0.81[ASN][1000 genomes]
rs799676	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8014552	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1051540	chr14:35200858-35278635	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35221400-35280800	Strong transcription	Primary T helper cells PMA-I stimulated	--
2	chr14:35221600-35274600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:35226000-35273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:35226000-35274000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:35231200-35291800	Weak transcription	Fetal Brain Male	brain
6	chr14:35232600-35293200	Weak transcription	Fetal Kidney	kidney
7	chr14:35234200-35274200	Weak transcription	Aorta	Aorta
8	chr14:35234200-35276000	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:35251600-35276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:35251600-35284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:35252200-35301000	Weak transcription	Psoas Muscle	Psoas
13	chr14:35252600-35277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:35253000-35274000	Weak transcription	Colonic Mucosa	Colon
15	chr14:35256800-35272400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:35257400-35282000	Strong transcription	Fetal Thymus	thymus
17	chr14:35258200-35272600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:35258800-35277400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:35259000-35272200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:35259000-35272400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr14:35260400-35283400	Strong transcription	Dnd41	blood
22	chr14:35262400-35279400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:35262600-35276800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:35262600-35283200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr14:35262600-35283800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr14:35263200-35272400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:35263200-35273600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:35263400-35272400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:35263400-35272400	Strong transcription	Adipose Nuclei	Adipose
30	chr14:35263800-35275000	Strong transcription	Primary T cells from cord blood	blood
31	chr14:35264800-35276600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:35265000-35278200	Weak transcription	Brain Substantia Nigra	brain
33	chr14:35265000-35296000	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:35265600-35272400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:35266000-35272400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:35266600-35274000	Strong transcription	GM12878-XiMat	blood
37	chr14:35266600-35276600	Strong transcription	Fetal Muscle Leg	muscle
38	chr14:35266800-35272200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:35266800-35272400	Strong transcription	Liver	Liver
40	chr14:35266800-35272400	Strong transcription	Osteobl	bone
41	chr14:35266800-35272800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:35266800-35274000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:35266800-35277000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:35267000-35272400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr14:35267000-35272600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:35267000-35276800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr14:35267200-35272400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:35267400-35272400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr14:35267600-35274200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:35267800-35272200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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