Variant report

Variant	rs12349392
Chromosome Location	chr9:14189311-14189312
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14179037..14181363-chr9:14186626..14189533,2	K562	blood:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10122366	0.80[AMR][1000 genomes]
rs10124557	0.80[AMR][1000 genomes]
rs10125399	1.00[EUR][1000 genomes]
rs10810102	1.00[EUR][1000 genomes]
rs10961397	0.80[AMR][1000 genomes]
rs11793827	1.00[EUR][1000 genomes]
rs12337592	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12351166	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16931440	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28440824	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7027294	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73645005	0.80[AMR][1000 genomes]
rs73645007	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73645008	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73645009	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv892596	chr9:14145487-14208724	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14123800-14198600	Weak transcription	Gastric	stomach
2	chr9:14177200-14203400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr9:14181000-14192400	Weak transcription	Pancreas	Pancrea
4	chr9:14182000-14192400	Weak transcription	Right Atrium	heart
5	chr9:14182000-14197000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:14182000-14198600	Weak transcription	Ovary	ovary
7	chr9:14182400-14193600	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:14182800-14198200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:14183400-14189600	Weak transcription	HUVEC	blood vessel
10	chr9:14183400-14192400	Weak transcription	Left Ventricle	heart
11	chr9:14183400-14192400	Weak transcription	Psoas Muscle	Psoas
12	chr9:14183400-14192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:14183800-14198400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:14185400-14189800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:14185600-14189400	Enhancers	Fetal Heart	heart
16	chr9:14185600-14191200	Enhancers	Fetal Lung	lung
17	chr9:14186000-14198600	Weak transcription	Lung	lung
18	chr9:14186800-14190000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:14186800-14198600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:14187000-14189400	Enhancers	Fetal Brain Male	brain
21	chr9:14187000-14190600	Enhancers	A549	lung
22	chr9:14187200-14189600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:14187200-14192400	Weak transcription	Right Ventricle	heart
24	chr9:14187400-14189800	Enhancers	Colon Smooth Muscle	Colon
25	chr9:14187800-14195600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:14187800-14198400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:14188000-14192400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr9:14188200-14192400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr9:14188200-14193800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr9:14188200-14193800	Weak transcription	HMEC	breast
31	chr9:14188200-14198600	Weak transcription	Fetal Stomach	stomach
32	chr9:14188200-14199000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr9:14188600-14191000	Weak transcription	Brain Germinal Matrix	brain
34	chr9:14189000-14189400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr9:14189000-14189400	Enhancers	Brain Anterior Caudate	brain
36	chr9:14189000-14189400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr9:14189000-14189800	Enhancers	Fetal Brain Female	brain
38	chr9:14189000-14198600	Weak transcription	Aorta	Aorta
39	chr9:14189200-14189800	Enhancers	Fetal Muscle Leg	muscle
40	chr9:14189200-14189800	Enhancers	Small Intestine	intestine
41	chr9:14189200-14190600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:14189200-14190600	Enhancers	NHEK	skin
43	chr9:14189200-14195000	Weak transcription	Adipose Nuclei	Adipose
44	chr9:14189200-14196600	Weak transcription	Liver	Liver

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