Variant report

Variant	rs13288931
Chromosome Location	chr9:104223999-104224000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104223612..104225291-chr9:104247459..104250202,2	K562	blood:

Variant related genes	Relation type
ENSG00000165152	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13288923	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13299916	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13299945	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13301570	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2150736	0.88[AFR][1000 genomes]
rs72743362	0.92[AFR][1000 genomes]
rs7849490	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7872599	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv614962	chr9:104204614-104240708	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104212000-104241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:104217000-104227600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:104218600-104228800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:104221200-104224400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:104221200-104225200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:104221400-104227200	Weak transcription	Liver	Liver
7	chr9:104221400-104227400	Weak transcription	Fetal Intestine Small	intestine
8	chr9:104221800-104224200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:104221800-104227600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr9:104221800-104227600	Weak transcription	NHLF	lung
11	chr9:104221800-104235000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr9:104222000-104236400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:104223000-104224600	Enhancers	Stomach Mucosa	stomach
14	chr9:104223200-104224000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:104223200-104225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr9:104223400-104225800	Enhancers	K562	blood
17	chr9:104223400-104226000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr9:104223600-104224000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:104223800-104224200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr9:104223800-104224200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr9:104223800-104224200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr9:104223800-104224400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:104223800-104224800	Weak transcription	NH-A	brain
24	chr9:104223800-104227000	Weak transcription	Fetal Intestine Large	intestine
25	chr9:104223800-104227000	Weak transcription	HepG2	liver
26	chr9:104223800-104227400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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