Variant report

Variant	rs12341418
Chromosome Location	chr9:98144979-98144980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:98144253..98146737-chr9:98186789..98189355,2	MCF-7	breast:
2	chr9:98143391..98145601-chr9:98149579..98151738,2	MCF-7	breast:
3	chr9:98144872..98147433-chr9:98200358..98201911,2	K562	blood:
4	chr9:98139755..98142120-chr9:98143949..98145821,2	MCF-7	breast:
5	chr9:98143050..98145894-chr9:98187631..98190723,5	MCF-7	breast:
6	chr9:98143874..98147656-chr9:98271045..98275159,6	MCF-7	breast:
7	chr9:98077971..98080393-chr9:98142983..98145704,5	MCF-7	breast:
8	chr9:98134626..98137202-chr9:98143503..98145569,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237857	Chromatin interaction
ENSG00000158169	Chromatin interaction

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

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

rs_ID	r²[population]
rs12348774	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs28398797	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28435194	1.00[AMR][1000 genomes]
rs28542069	1.00[AMR][1000 genomes]
rs28701945	1.00[AMR][1000 genomes]
rs28756405	1.00[AMR][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	nsv831657	chr9:97959274-98204769	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1045479	chr9:98115290-98172995	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98139400-98147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:98143000-98146800	Enhancers	NHLF	lung
3	chr9:98143200-98146600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:98143200-98146800	Enhancers	HMEC	breast
5	chr9:98143200-98146800	Enhancers	NH-A	brain
6	chr9:98143400-98146800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:98143600-98146000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:98143600-98146800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:98143800-98145400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:98144000-98145400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:98144000-98145400	Weak transcription	HSMM	muscle
12	chr9:98144000-98145400	Weak transcription	HSMMtube	muscle
13	chr9:98144000-98145600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:98144000-98145600	Weak transcription	Adipose Nuclei	Adipose
15	chr9:98144000-98172400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:98144400-98146800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:98144600-98145200	Flanking Active TSS	A549	lung
18	chr9:98144600-98145400	Enhancers	NHEK	skin
19	chr9:98144600-98146600	Flanking Active TSS	Hela-S3	cervix
20	chr9:98144600-98148400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:98144800-98145000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:98144800-98145200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:98144800-98145800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:98144800-98147600	Enhancers	Placenta	Placenta

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