Variant report

Variant	rs2984157
Chromosome Location	chr9:27221555-27221556
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10757642	0.90[ASN][1000 genomes]
rs10757643	0.90[ASN][1000 genomes]
rs10757644	0.90[ASN][1000 genomes]
rs10812540	0.90[ASN][1000 genomes]
rs10812541	0.90[ASN][1000 genomes]
rs10812542	0.96[ASN][1000 genomes]
rs10812558	0.81[ASN][1000 genomes]
rs10812559	0.81[ASN][1000 genomes]
rs10967785	0.94[ASN][1000 genomes]
rs10967789	0.96[ASN][1000 genomes]
rs10967791	0.90[ASN][1000 genomes]
rs10967792	0.96[ASN][1000 genomes]
rs10967794	0.96[ASN][1000 genomes]
rs10967823	0.83[ASN][1000 genomes]
rs10967834	0.81[ASN][1000 genomes]
rs12236801	0.96[ASN][1000 genomes]
rs12238077	0.96[ASN][1000 genomes]
rs12340759	0.94[ASN][1000 genomes]
rs12349915	0.94[ASN][1000 genomes]
rs12349937	1.00[ASN][1000 genomes]
rs12350012	0.94[ASN][1000 genomes]
rs2273716	0.92[ASN][1000 genomes]
rs7027020	0.81[ASN][1000 genomes]
rs7031650	0.98[ASN][1000 genomes]
rs7037940	0.94[ASN][1000 genomes]
rs7041267	0.94[ASN][1000 genomes]
rs7042665	0.90[ASN][1000 genomes]
rs7042745	0.90[ASN][1000 genomes]
rs7043508	0.96[ASN][1000 genomes]
rs72614300	0.88[ASN][1000 genomes]
rs72614302	0.96[ASN][1000 genomes]
rs72617305	0.96[ASN][1000 genomes]
rs7469836	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016733	chr9:27073650-27264576	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1022313	chr9:27083369-27250505	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1017802	chr9:27088160-27262682	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019104	chr9:27088160-27358206	Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv892864	chr9:27176554-27296705	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv466335	chr9:27179244-27234029	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv613946	chr9:27179244-27234029	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1027482	chr9:27195840-27233157	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1018864	chr9:27195840-27294815	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2761268	chr9:27195852-27291261	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv466336	chr9:27196119-27292703	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv471294	chr9:27196119-27292703	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv613947	chr9:27196119-27292703	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1033002	chr9:27199373-27232601	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv892865	chr9:27217992-27258216	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2984157	CAAP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27151000-27229200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:27166200-27229000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:27180800-27230600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:27195200-27221800	Weak transcription	Fetal Intestine Large	intestine
5	chr9:27196800-27228800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:27201400-27224800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:27211800-27231600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr9:27212000-27226800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr9:27212600-27223000	Strong transcription	Adipose Nuclei	Adipose
10	chr9:27213000-27232800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:27215600-27229400	Weak transcription	Osteobl	bone
12	chr9:27217000-27222800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr9:27218200-27223000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:27218600-27221600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:27218600-27221600	Strong transcription	Aorta	Aorta
16	chr9:27218800-27225800	Weak transcription	Right Ventricle	heart
17	chr9:27219000-27231600	Weak transcription	Fetal Lung	lung
18	chr9:27219200-27222200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:27219200-27223000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:27219400-27230400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:27219600-27222400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:27219600-27222600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:27220000-27222000	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr9:27220400-27221600	Strong transcription	Ovary	ovary
25	chr9:27220600-27221600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:27220600-27221800	ZNF genes & repeats	Fetal Stomach	stomach
27	chr9:27220600-27227200	Weak transcription	HUVEC	blood vessel
28	chr9:27220800-27222400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:27220800-27230000	Weak transcription	Fetal Muscle Leg	muscle
30	chr9:27221000-27227600	Weak transcription	Liver	Liver
31	chr9:27221200-27222800	ZNF genes & repeats	Left Ventricle	heart
32	chr9:27221200-27226800	Weak transcription	Placenta	Placenta
33	chr9:27221200-27227200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:27221200-27229000	Weak transcription	Lung	lung
35	chr9:27221400-27222800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:27221400-27223400	Weak transcription	Spleen	Spleen
37	chr9:27221400-27230200	Weak transcription	Fetal Muscle Trunk	muscle

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