Variant report

Variant	rs1431091
Chromosome Location	chr7:137016311-137016312
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10227966	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10233933	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10241448	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10250267	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10255150	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10271620	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10282363	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1431090	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1431093	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1431095	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs161093	0.86[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs161094	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs161095	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2290268	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs320682	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs320715	0.86[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs320716	0.86[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs320719	0.83[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs320720	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs320721	0.82[CEU][hapmap];0.83[CHB][hapmap];0.96[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs320722	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs320723	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs320725	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs320726	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs321198	0.87[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs321200	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs322329	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7807025	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv889240	chr7:136972027-137038092	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv889241	chr7:136976713-137038092	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
6	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv889242	chr7:137005808-137081223	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1431091	PTN	cis	Esophagus Mucosa	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137002000-137020000	Weak transcription	Fetal Stomach	stomach
2	chr7:137010400-137018200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:137010800-137016400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:137011000-137016400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:137011000-137020800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:137012000-137022600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:137012400-137016600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:137013600-137016400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:137014000-137017000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:137014200-137016400	Weak transcription	Right Atrium	heart
11	chr7:137014400-137020200	Weak transcription	Brain Anterior Caudate	brain
12	chr7:137014400-137021000	Weak transcription	Esophagus	oesophagus
13	chr7:137015000-137017000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:137015200-137016800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:137015400-137016600	Enhancers	Fetal Muscle Leg	muscle
16	chr7:137015400-137018000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr7:137015600-137016800	Enhancers	Brain Angular Gyrus	brain
18	chr7:137015800-137016600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:137015800-137016600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:137015800-137016600	Enhancers	Osteobl	bone
21	chr7:137015800-137017000	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:137015800-137017000	Enhancers	Brain Hippocampus Middle	brain
23	chr7:137016000-137016400	Active TSS	HSMMtube	muscle
24	chr7:137016000-137016600	Enhancers	HMEC	breast
25	chr7:137016000-137016600	Enhancers	NH-A	brain
26	chr7:137016000-137016600	Enhancers	NHLF	lung
27	chr7:137016000-137016800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:137016000-137017000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:137016000-137017000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:137016200-137016400	Enhancers	Gastric	stomach
31	chr7:137016200-137016600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:137016200-137016600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:137016200-137016600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:137016200-137016600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:137016200-137016600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:137016200-137016600	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr7:137016200-137016600	Enhancers	Fetal Muscle Trunk	muscle
38	chr7:137016200-137017000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:137016200-137017000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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