Variant report

Variant	rs4142079
Chromosome Location	chr9:14516553-14516554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14516030..14517919-chr9:14520265..14523157,2	K562	blood:
2	chr9:14317595..14319386-chr9:14514987..14517848,2	K562	blood:
3	chr9:14511289..14514140-chr9:14516209..14518705,2	K562	blood:
4	chr9:14514179..14519206-chr9:14523722..14526155,4	K562	blood:
5	chr9:14511731..14517337-chr9:14526461..14532688,9	K562	blood:
6	chr9:14513116..14517337-chr9:14529012..14532245,4	K562	blood:

Variant related genes	Relation type
ENSG00000237137	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10756570	0.86[ASN][1000 genomes]
rs10810169	0.86[ASN][1000 genomes]
rs10810170	0.85[ASN][1000 genomes]
rs10810171	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10961554	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11793755	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1328004	0.85[ASN][1000 genomes]
rs4741390	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7851327	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7851867	0.84[ASN][1000 genomes]
rs7852414	0.85[AMR][1000 genomes]
rs7854892	0.83[ASN][1000 genomes]
rs7858564	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs963659	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[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	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
2	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
3	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14515000-14517800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr9:14515000-14518000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr9:14515200-14517200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr9:14515200-14517600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:14515200-14517800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:14515200-14518000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:14515200-14518400	Enhancers	Fetal Muscle Leg	muscle
8	chr9:14515400-14516600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:14515400-14517800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr9:14515400-14519000	Enhancers	Brain Germinal Matrix	brain
11	chr9:14515600-14517600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:14515600-14517800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr9:14515800-14516800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:14515800-14517200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:14515800-14517800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:14515800-14518000	Enhancers	Fetal Brain Female	brain
17	chr9:14516000-14517200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:14516000-14517200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:14516000-14517600	Enhancers	Fetal Brain Male	brain
20	chr9:14516000-14517600	Enhancers	HSMM	muscle
21	chr9:14516000-14518000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr9:14516200-14516600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:14516200-14516800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:14516200-14517200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:14516200-14521000	Weak transcription	Psoas Muscle	Psoas
26	chr9:14516400-14518800	Enhancers	HSMMtube	muscle
27	chr9:14516400-14519800	Enhancers	K562	blood

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