Variant report

Variant	rs1927350
Chromosome Location	chr13:111118546-111118547
allele	G/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	POLR2A	chr13:111118546-111118703	A549	lung:	n/a	n/a

Variant related genes	Relation type
COL4A2	TF binding region
COL4A2-AS2	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1927351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927353	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983931	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1983932	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28502737	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3803232	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3803234	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803236	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3803238	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4417423	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6492278	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7139426	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7318014	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7319009	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7321468	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7323041	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7325055	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7325334	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7326779	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7334909	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7336609	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7339193	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7990214	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7990383	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7992707	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7995158	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7996257	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7996349	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7996702	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9515216	0.84[AMR][1000 genomes]
rs9515218	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9515219	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9515221	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9515222	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9515223	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9515224	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9515227	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9515229	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9515231	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9521781	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9521782	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9521784	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9521785	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9521786	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9521787	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9521789	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521790	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521792	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521794	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9555704	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9559807	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9559809	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9559810	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9559811	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9559814	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv901008	chr13:111089573-111126501	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv430604	chr13:111095999-111156999	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1039297	chr13:111101507-111138863	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv541923	chr13:111101507-111138863	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
2	chr13:111099000-111123400	Strong transcription	Fetal Muscle Trunk	muscle
3	chr13:111100000-111120000	Weak transcription	Pancreas	Pancrea
4	chr13:111101600-111130200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:111101800-111127800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:111102200-111122000	Strong transcription	Placenta	Placenta
7	chr13:111103800-111125600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:111107600-111130400	Weak transcription	Right Atrium	heart
10	chr13:111108200-111129200	Strong transcription	Right Ventricle	heart
11	chr13:111108200-111138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:111108400-111126800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr13:111108600-111118600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:111108600-111127000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:111108600-111138200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach
17	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
18	chr13:111108800-111118600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:111108800-111118600	Weak transcription	Brain Substantia Nigra	brain
20	chr13:111108800-111118800	Weak transcription	Brain Hippocampus Middle	brain
21	chr13:111108800-111119800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:111108800-111119800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr13:111108800-111121800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr13:111108800-111123800	Weak transcription	Liver	Liver
25	chr13:111108800-111126800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr13:111108800-111126800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr13:111108800-111126800	Weak transcription	Fetal Heart	heart
28	chr13:111108800-111126800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr13:111108800-111127000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr13:111108800-111130200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr13:111108800-111148800	Weak transcription	Brain Angular Gyrus	brain
32	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
33	chr13:111109000-111126800	Weak transcription	A549	lung
34	chr13:111109000-111129200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:111109600-111120600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:111109600-111131000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
39	chr13:111109600-111158800	Strong transcription	Ovary	ovary
40	chr13:111109800-111122600	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr13:111109800-111124000	Strong transcription	Osteobl	bone
42	chr13:111109800-111126800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:111110000-111123800	Strong transcription	NH-A	brain
46	chr13:111110200-111122600	Strong transcription	HUVEC	blood vessel
47	chr13:111110800-111122000	Weak transcription	HMEC	breast
48	chr13:111110800-111122400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr13:111110800-111122600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:111111400-111122600	Strong transcription	Adipose Nuclei	Adipose

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