Variant report

Variant	rs4977567
Chromosome Location	chr9:21844643-21844644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10114559	0.91[ASN][1000 genomes]
rs10119568	0.84[ASN][1000 genomes]
rs10119693	0.83[ASN][1000 genomes]
rs10121449	0.91[ASN][1000 genomes]
rs10738601	0.85[ASN][1000 genomes]
rs10757257	0.87[ASN][1000 genomes]
rs10811623	0.88[ASN][1000 genomes]
rs10811625	0.91[ASN][1000 genomes]
rs10811626	0.91[ASN][1000 genomes]
rs10811629	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10965128	0.82[ASN][1000 genomes]
rs10965134	0.81[ASN][1000 genomes]
rs10965135	0.81[ASN][1000 genomes]
rs10965141	0.87[ASN][1000 genomes]
rs10965143	0.89[ASN][1000 genomes]
rs10965144	0.89[ASN][1000 genomes]
rs10965145	0.89[ASN][1000 genomes]
rs10965153	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11523031	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11532907	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12554745	0.83[AFR][1000 genomes]
rs1345020	0.80[ASN][1000 genomes]
rs1345023	0.81[ASN][1000 genomes]
rs1345024	0.81[ASN][1000 genomes]
rs3900787	0.91[ASN][1000 genomes]
rs3922992	0.91[ASN][1000 genomes]
rs4454372	0.85[AFR][1000 genomes]
rs4615669	0.91[ASN][1000 genomes]
rs4636295	0.93[AFR][1000 genomes]
rs4977733	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4977734	0.87[AFR][1000 genomes]
rs58377678	0.83[ASN][1000 genomes]
rs62556497	0.92[AFR][1000 genomes]
rs7022754	0.81[ASN][1000 genomes]
rs7023329	0.84[ASN][1000 genomes]
rs7023954	0.91[ASN][1000 genomes]
rs7047826	0.92[AFR][1000 genomes]
rs7049092	0.81[ASN][1000 genomes]
rs7850937	0.95[AFR][1000 genomes]
rs7851133	0.92[AFR][1000 genomes]
rs7863090	0.91[ASN][1000 genomes]
rs7863942	0.81[ASN][1000 genomes]
rs7868783	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4977567	MTAP	cis	Muscle Skeletal	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21814400-21845200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:21832200-21852400	Weak transcription	Stomach Mucosa	stomach
3	chr9:21837200-21850400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:21838200-21848000	Weak transcription	Brain Anterior Caudate	brain
5	chr9:21838400-21849000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:21839400-21854400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:21839600-21846600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr9:21840200-21846800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr9:21840400-21846600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr9:21840600-21844800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr9:21840600-21849000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr9:21840800-21848800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:21841400-21858800	Weak transcription	Colonic Mucosa	Colon
14	chr9:21841600-21845000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:21841600-21845200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:21841600-21845600	Weak transcription	Brain Substantia Nigra	brain
17	chr9:21841600-21847600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr9:21841600-21847800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr9:21841600-21854200	Weak transcription	Hela-S3	cervix
20	chr9:21841600-21854400	Weak transcription	NHLF	lung
21	chr9:21841600-21854600	Weak transcription	NHDF-Ad	bronchial
22	chr9:21841600-21858400	Weak transcription	Spleen	Spleen
23	chr9:21841800-21845200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:21841800-21845400	Weak transcription	Aorta	Aorta
25	chr9:21841800-21846600	Weak transcription	Fetal Intestine Small	intestine
26	chr9:21841800-21847400	Weak transcription	Colon Smooth Muscle	Colon
27	chr9:21841800-21847600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr9:21841800-21847600	Weak transcription	Dnd41	blood
29	chr9:21841800-21847600	Weak transcription	HSMM	muscle
30	chr9:21841800-21847600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr9:21841800-21847800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:21841800-21847800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:21841800-21847800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:21841800-21847800	Weak transcription	Brain Hippocampus Middle	brain
35	chr9:21841800-21847800	Weak transcription	Fetal Stomach	stomach
36	chr9:21841800-21848000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr9:21841800-21848000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:21841800-21848000	Weak transcription	Lung	lung
39	chr9:21841800-21848200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr9:21841800-21848600	Weak transcription	Fetal Brain Male	brain
41	chr9:21841800-21848600	Weak transcription	Thymus	Thymus
42	chr9:21841800-21849200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr9:21841800-21852200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr9:21841800-21852200	Weak transcription	Pancreas	Pancrea
45	chr9:21841800-21852200	Weak transcription	HepG2	liver
46	chr9:21841800-21852400	Weak transcription	Small Intestine	intestine
47	chr9:21841800-21854600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:21841800-21854800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr9:21841800-21854800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:21841800-21855400	Weak transcription	Gastric	stomach

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