Variant report

Variant	rs9946370
Chromosome Location	chr18:11829525-11829526
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11829232..11831627-chr18:11908046..11910026,2	K562	blood:

Variant related genes	Relation type
ENSG00000154889	Chromatin interaction
ENSG00000273141	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12607391	0.99[ASN][1000 genomes]
rs12607811	0.90[ASN][1000 genomes]
rs1647553	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1647561	0.84[ASN][1000 genomes]
rs16976714	0.84[ASN][1000 genomes]
rs16976735	0.85[ASN][1000 genomes]
rs16976739	0.88[ASN][1000 genomes]
rs16976750	0.90[ASN][1000 genomes]
rs1786563	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1786573	0.85[ASN][1000 genomes]
rs2276134	0.93[ASN][1000 genomes]
rs28510090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28690612	0.86[ASN][1000 genomes]
rs60682158	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60821058	0.86[ASN][1000 genomes]
rs62097372	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72868650	0.99[ASN][1000 genomes]
rs72868655	0.92[ASN][1000 genomes]
rs72868658	0.92[ASN][1000 genomes]
rs9952489	0.86[ASN][1000 genomes]
rs9955115	0.86[ASN][1000 genomes]
rs9959605	0.85[ASN][1000 genomes]
rs9962861	0.86[ASN][1000 genomes]
rs9962908	0.85[ASN][1000 genomes]
rs9963000	0.85[ASN][1000 genomes]
rs9963158	0.86[ASN][1000 genomes]
rs9966733	0.98[ASN][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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11808000-11830600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:11822800-11832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:11822800-11836600	Weak transcription	Hela-S3	cervix
4	chr18:11825400-11849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:11827000-11831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:11827200-11831200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:11828200-11829600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:11828800-11829600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr18:11828800-11829600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr18:11828800-11829600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr18:11828800-11829600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr18:11828800-11829600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr18:11828800-11829600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr18:11828800-11829600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr18:11828800-11829600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:11828800-11830200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr18:11829000-11829600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr18:11829000-11829600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:11829000-11829600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr18:11829000-11829800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:11829000-11830200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr18:11829200-11829600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr18:11829400-11833600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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