Variant report

Variant	rs12377379
Chromosome Location	chr9:21530052-21530053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10491567	0.89[EUR][1000 genomes]
rs10811549	0.84[EUR][1000 genomes]
rs10811551	0.82[EUR][1000 genomes]
rs10811556	0.89[EUR][1000 genomes]
rs10811562	0.95[EUR][1000 genomes]
rs10811563	0.95[EUR][1000 genomes]
rs10811564	0.93[EUR][1000 genomes]
rs10964987	0.87[AMR][1000 genomes]
rs10965002	0.82[AMR][1000 genomes]
rs10965005	0.82[AMR][1000 genomes]
rs10965010	0.82[AMR][1000 genomes]
rs10965019	0.86[EUR][1000 genomes]
rs10965024	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10965031	0.82[EUR][1000 genomes]
rs10965034	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10965036	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10965050	0.91[EUR][1000 genomes]
rs10965053	0.95[EUR][1000 genomes]
rs10965054	0.95[EUR][1000 genomes]
rs10965059	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10965063	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1125488	0.88[EUR][1000 genomes]
rs12375583	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12378286	0.95[EUR][1000 genomes]
rs12378990	0.95[EUR][1000 genomes]
rs12379382	0.95[EUR][1000 genomes]
rs12379672	0.81[ASN][1000 genomes]
rs12379709	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12379721	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1332188	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16938433	0.86[EUR][1000 genomes]
rs16938435	0.87[EUR][1000 genomes]
rs16938448	0.95[EUR][1000 genomes]
rs2039380	0.80[EUR][1000 genomes]
rs55683539	0.95[EUR][1000 genomes]
rs55835613	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55938615	0.87[AMR][1000 genomes]
rs56106002	0.82[AMR][1000 genomes]
rs56122777	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56337511	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7026731	0.89[EUR][1000 genomes]
rs7032680	0.89[EUR][1000 genomes]
rs7041183	0.89[EUR][1000 genomes]
rs72703410	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72703411	0.82[EUR][1000 genomes]
rs72703417	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72703418	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72703419	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72703426	0.86[EUR][1000 genomes]
rs72703445	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72703447	0.95[EUR][1000 genomes]
rs72703449	0.95[EUR][1000 genomes]
rs72703450	0.95[EUR][1000 genomes]
rs9644855	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892740	chr9:21471499-21551513	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	110 gene(s)	inside rSNPs	diseases
2	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
3	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
4	nsv892741	chr9:21517302-21551513	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21507200-21551400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:21508000-21542000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:21516800-21542600	Weak transcription	Stomach Mucosa	stomach
4	chr9:21522600-21532600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:21522600-21533200	Strong transcription	NH-A	brain
6	chr9:21524400-21532200	Strong transcription	Osteobl	bone
7	chr9:21525600-21534000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:21525800-21530800	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr9:21526200-21532400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:21526400-21534800	Strong transcription	NHEK	skin
11	chr9:21526600-21530200	Strong transcription	HSMM	muscle
12	chr9:21526600-21533000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:21526800-21534800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:21527000-21531000	Strong transcription	NHDF-Ad	bronchial
15	chr9:21527000-21531200	Strong transcription	NHLF	lung
16	chr9:21527800-21536600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:21528200-21531600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr9:21528200-21532800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr9:21528600-21531800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:21528800-21530400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:21528800-21530800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:21528800-21531000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:21528800-21532200	Strong transcription	HMEC	breast
24	chr9:21528800-21533000	Strong transcription	Hela-S3	cervix
25	chr9:21528800-21533400	Weak transcription	Fetal Intestine Large	intestine
26	chr9:21528800-21535800	Weak transcription	Gastric	stomach
27	chr9:21528800-21542000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:21529000-21530200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:21529000-21531000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:21529000-21532000	Weak transcription	HUVEC	blood vessel
31	chr9:21529000-21533200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:21529000-21534800	Weak transcription	Esophagus	oesophagus
33	chr9:21529000-21551400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr9:21529600-21530200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr9:21529800-21530200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:21530000-21530800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:21530000-21532000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:21530000-21532000	Strong transcription	A549	lung

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