Variant report

Variant	rs12337592
Chromosome Location	chr9:14187313-14187314
allele	A/C
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:
2	chr9:14185623..14188206-chr9:14197745..14200671,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10122366	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10124557	0.81[AFR][1000 genomes];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]
rs12349392	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12351166	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12353469	0.81[AFR][1000 genomes]
rs16931440	0.99[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	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73645007	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73645008	0.88[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:41 , 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	chr9:14181000-14189200	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:14181000-14189200	Weak transcription	Small Intestine	intestine
5	chr9:14181000-14192400	Weak transcription	Pancreas	Pancrea
6	chr9:14182000-14187800	Weak transcription	Brain Germinal Matrix	brain
7	chr9:14182000-14187800	Weak transcription	Fetal Stomach	stomach
8	chr9:14182000-14192400	Weak transcription	Right Atrium	heart
9	chr9:14182000-14197000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:14182000-14198600	Weak transcription	Ovary	ovary
11	chr9:14182400-14189000	Weak transcription	Fetal Brain Female	brain
12	chr9:14182400-14193600	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:14182600-14187600	Weak transcription	Adipose Nuclei	Adipose
14	chr9:14182600-14189000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:14182800-14198200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:14183400-14189600	Weak transcription	HUVEC	blood vessel
17	chr9:14183400-14192400	Weak transcription	Left Ventricle	heart
18	chr9:14183400-14192400	Weak transcription	Psoas Muscle	Psoas
19	chr9:14183400-14192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr9:14183800-14198400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:14185400-14188200	Enhancers	HMEC	breast
22	chr9:14185400-14189000	Enhancers	Stomach Mucosa	stomach
23	chr9:14185400-14189800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr9:14185600-14187800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:14185600-14189400	Enhancers	Fetal Heart	heart
26	chr9:14185600-14191200	Enhancers	Fetal Lung	lung
27	chr9:14186000-14198600	Weak transcription	Lung	lung
28	chr9:14186200-14189200	Enhancers	Liver	Liver
29	chr9:14186400-14187400	Weak transcription	Colon Smooth Muscle	Colon
30	chr9:14186400-14189200	Weak transcription	NHEK	skin
31	chr9:14186600-14187600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr9:14186600-14188200	Enhancers	Rectal Smooth Muscle	rectum
33	chr9:14186800-14189000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr9:14186800-14190000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:14186800-14198600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:14187000-14187800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:14187000-14188000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:14187000-14189400	Enhancers	Fetal Brain Male	brain
39	chr9:14187000-14190600	Enhancers	A549	lung
40	chr9:14187200-14189600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:14187200-14192400	Weak transcription	Right Ventricle	heart

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