Variant report

Variant	rs12343238
Chromosome Location	chr9:110503147-110503148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:110498957..110503711-chr9:110512687..110515100,7	MCF-7	breast:
2	chr9:110500719..110502247-chr9:110502621..110504318,2	MCF-7	breast:
3	chr9:110251154..110252819-chr9:110502244..110504957,2	MCF-7	breast:
4	chr9:110501617..110503212-chr9:110597427..110600005,2	MCF-7	breast:
5	chr9:110249403..110253964-chr9:110500193..110503915,6	MCF-7	breast:
6	chr9:110501530..110503176-chr9:110565296..110567173,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136826	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10115530	0.84[ASN][1000 genomes]
rs10979029	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12338011	0.81[ASN][1000 genomes]
rs12338114	0.84[ASN][1000 genomes]
rs12347252	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73518922	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427850	chr9:110456613-110632324	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv428221	chr9:110456613-110632324	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv525064	chr9:110501437-110504358	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110495800-110504200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr9:110496000-110503200	Enhancers	Fetal Lung	lung
3	chr9:110496000-110503600	Enhancers	Ovary	ovary
4	chr9:110496000-110510800	Weak transcription	Aorta	Aorta
5	chr9:110497200-110506600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:110497200-110506800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr9:110497400-110503800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:110497400-110510800	Weak transcription	Psoas Muscle	Psoas
9	chr9:110499400-110504800	Enhancers	Fetal Muscle Trunk	muscle
10	chr9:110499600-110503400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:110499800-110503400	Enhancers	HMEC	breast
12	chr9:110499800-110505200	Enhancers	Adipose Nuclei	Adipose
13	chr9:110500000-110504000	Enhancers	Stomach Mucosa	stomach
14	chr9:110500000-110504200	Enhancers	Fetal Muscle Leg	muscle
15	chr9:110500000-110505000	Weak transcription	Spleen	Spleen
16	chr9:110500600-110504000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:110500800-110511600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:110501000-110507000	Weak transcription	GM12878-XiMat	blood
19	chr9:110501200-110510600	Weak transcription	Brain Anterior Caudate	brain
20	chr9:110501400-110504000	Enhancers	Hela-S3	cervix
21	chr9:110501400-110504200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:110501800-110503200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:110501800-110503200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr9:110502000-110503200	Enhancers	Stomach Smooth Muscle	stomach
25	chr9:110502200-110503200	Enhancers	NHEK	skin
26	chr9:110502200-110504200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:110502400-110503200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr9:110502600-110504800	Weak transcription	Fetal Brain Male	brain
29	chr9:110502600-110511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:110503000-110504200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:110503000-110504200	Weak transcription	Right Atrium	heart
32	chr9:110503000-110504800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:110503000-110504800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:110503000-110504800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:110503000-110504800	Weak transcription	Esophagus	oesophagus
36	chr9:110503000-110510400	Weak transcription	Right Ventricle	heart
37	chr9:110503000-110510600	Weak transcription	Left Ventricle	heart
38	chr9:110503000-110510800	Weak transcription	Placenta	Placenta
39	chr9:110503000-110511400	Weak transcription	NHLF	lung

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