Variant report

Variant	rs7048052
Chromosome Location	chr9:94692634-94692635
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94690952..94694110-chr9:94710827..94713907,3	K562	blood:
2	chr9:94680096..94683212-chr9:94691490..94694919,3	K562	blood:
3	chr9:94689308..94690973-chr9:94691805..94694661,2	K562	blood:
4	chr9:94679676..94683212-chr9:94692527..94694919,4	K562	blood:

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11795340	0.88[JPT][hapmap]
rs1573979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16908129	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16908147	1.00[CHB][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs1954599	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs2049704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2049705	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2186091	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2297569	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs3858082	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4743851	1.00[AFR][1000 genomes]
rs6479381	0.92[ASN][1000 genomes]
rs6479382	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7032998	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7033261	0.80[ASN][1000 genomes]
rs7038822	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7046846	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73519162	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73519164	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73519170	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73519172	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73519174	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73519181	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7851545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7857164	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7857924	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7866188	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7872177	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7873326	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7875069	0.92[ASN][1000 genomes]
rs7875147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7876056	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9696921	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94686600-94696000	Weak transcription	Ovary	ovary
2	chr9:94690200-94693000	ZNF genes & repeats	Fetal Stomach	stomach
3	chr9:94690800-94696200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:94691000-94695400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:94691800-94693400	ZNF genes & repeats	Fetal Lung	lung
6	chr9:94691800-94693600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr9:94691800-94694600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:94692000-94692800	Active TSS	Primary T cells from cord blood	blood
9	chr9:94692000-94693200	ZNF genes & repeats	K562	blood
10	chr9:94692000-94693400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:94692200-94693400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr9:94692400-94694000	ZNF genes & repeats	Colon Smooth Muscle	Colon
13	chr9:94692600-94693200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:94692600-94694600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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