Variant report

Variant	rs320726
Chromosome Location	chr7:137027042-137027043
allele	A/C
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	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10233933	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10241448	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10250267	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10255150	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10271620	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10282363	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1431090	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1431091	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1431093	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1431095	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161093	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs161094	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs161095	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2290268	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs320682	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs320715	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs320716	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs320719	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs320720	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs320721	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs320722	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs320723	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs320725	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs321198	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs321200	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs322329	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7807025	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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
rs320726	PTN	cis	Esophagus Mucosa	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137016600-137027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:137021200-137027200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:137021200-137027200	Weak transcription	HMEC	breast
4	chr7:137021400-137027600	Weak transcription	Esophagus	oesophagus
5	chr7:137024400-137029000	Active TSS	Fetal Brain Female	brain
6	chr7:137024600-137028600	Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr7:137025200-137027600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:137025200-137028600	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:137025800-137028800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:137025800-137028800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:137026200-137027400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:137026200-137028600	Active TSS	Fetal Stomach	stomach
13	chr7:137026200-137028800	Active TSS	Brain Hippocampus Middle	brain
14	chr7:137026400-137027600	Active TSS	Stomach Smooth Muscle	stomach
15	chr7:137026400-137028600	Active TSS	Fetal Kidney	kidney
16	chr7:137026400-137028800	Active TSS	Brain Angular Gyrus	brain
17	chr7:137026400-137029000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:137026400-137029000	Active TSS	Brain Cingulate Gyrus	brain
19	chr7:137026600-137027400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr7:137026600-137027600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:137026600-137027600	Active TSS	Fetal Muscle Leg	muscle
22	chr7:137026600-137028800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:137026800-137027200	Flanking Active TSS	Fetal Brain Male	brain
24	chr7:137026800-137027200	Enhancers	Fetal Heart	heart
25	chr7:137026800-137027200	Flanking Active TSS	NHLF	lung
26	chr7:137026800-137027400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr7:137026800-137027600	Active TSS	Colon Smooth Muscle	Colon
28	chr7:137026800-137027600	Active TSS	NH-A	brain
29	chr7:137026800-137027800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:137026800-137028200	Active TSS	Fetal Muscle Trunk	muscle
31	chr7:137026800-137028600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr7:137026800-137028800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:137026800-137028800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr7:137026800-137028800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:137026800-137028800	Active TSS	Fetal Intestine Large	intestine
36	chr7:137026800-137028800	Active TSS	Fetal Intestine Small	intestine
37	chr7:137026800-137028800	Active TSS	Right Atrium	heart
38	chr7:137026800-137029000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:137026800-137029000	Active TSS	Brain Anterior Caudate	brain
40	chr7:137026800-137029000	Active TSS	Brain Substantia Nigra	brain
41	chr7:137026800-137029000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr7:137027000-137027200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:137027000-137027200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
44	chr7:137027000-137027200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:137027000-137027200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:137027000-137027200	Flanking Active TSS	Fetal Lung	lung
47	chr7:137027000-137027200	Enhancers	Ovary	ovary
48	chr7:137027000-137027400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr7:137027000-137027400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:137027000-137027400	Flanking Active TSS	Brain Germinal Matrix	brain

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