Variant report

Variant	rs11788348
Chromosome Location	chr9:94588331-94588332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94579358..94582251-chr9:94586460..94588565,3	MCF-7	breast:
2	chr9:94580430..94582585-chr9:94584118..94590050,5	K562	blood:
3	chr9:94586540..94588666-chr9:94592596..94596432,3	MCF-7	breast:
4	chr9:94580430..94582759-chr9:94584118..94590023,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11787708	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes]
rs11788423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11788545	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11789285	0.81[JPT][hapmap]
rs11789408	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11790201	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11790345	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs11790808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11791415	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11792371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11792667	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11792818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11793320	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11793706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11794240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11794532	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11795340	0.89[JPT][hapmap]
rs1569141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16907923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2141369	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35783050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36034285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7026615	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes]
rs7032536	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7045662	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7853161	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7867837	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7871170	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7874281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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
7	nsv518372	chr9:94558126-94605908	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv6614	chr9:94571349-94610085	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94584000-94595800	Weak transcription	Gastric	stomach
2	chr9:94585600-94588600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:94586200-94588400	Enhancers	Placenta	Placenta
4	chr9:94586200-94588600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr9:94586400-94588600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:94586400-94588600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:94586800-94588400	Enhancers	NHLF	lung
8	chr9:94586800-94588600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr9:94587000-94588400	Enhancers	Fetal Lung	lung
10	chr9:94587000-94588600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:94587800-94588400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:94587800-94588600	Enhancers	Stomach Smooth Muscle	stomach
13	chr9:94588000-94588400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:94588000-94588400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:94588000-94588400	Enhancers	NHEK	skin
16	chr9:94588000-94588600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:94588000-94588600	Enhancers	Colon Smooth Muscle	Colon
18	chr9:94588000-94588600	Enhancers	NHDF-Ad	bronchial
19	chr9:94588000-94595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:94588000-94596000	Weak transcription	Fetal Intestine Small	intestine
21	chr9:94588200-94588400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:94588200-94588400	Weak transcription	Fetal Kidney	kidney
23	chr9:94588200-94588600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:94588200-94594000	Weak transcription	Fetal Stomach	stomach
25	chr9:94588200-94595400	Weak transcription	Ovary	ovary
26	chr9:94588200-94595800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:94588200-94595800	Weak transcription	Rectal Smooth Muscle	rectum

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