Variant report

Variant	rs60396748
Chromosome Location	chr9:71165319-71165320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10746880	0.87[AMR][1000 genomes]
rs57111106	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57637415	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58674993	1.00[AMR][1000 genomes]
rs59022171	1.00[AMR][1000 genomes]
rs7028925	1.00[AMR][1000 genomes]
rs7038473	1.00[AMR][1000 genomes]
rs7038839	1.00[AMR][1000 genomes]
rs7853512	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893413	chr9:71130848-71196984	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv893411	chr9:71130848-71199545	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv893412	chr9:71130848-71199545	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1024967	chr9:71130848-71210031	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv482506	chr9:71130848-71280888	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv466392	chr9:71130848-71318817	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv614546	chr9:71130848-71318817	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv893414	chr9:71139378-71320732	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71152200-71170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:71157200-71165600	Weak transcription	Stomach Mucosa	stomach
3	chr9:71157200-71166000	Weak transcription	Colonic Mucosa	Colon
4	chr9:71157400-71166000	Weak transcription	Fetal Heart	heart
5	chr9:71162000-71165600	Weak transcription	Pancreas	Pancrea
6	chr9:71162000-71167000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:71162000-71167800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr9:71162000-71169800	Weak transcription	Gastric	stomach
9	chr9:71162200-71165600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr9:71162200-71165600	Weak transcription	Left Ventricle	heart
11	chr9:71162200-71165600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:71162200-71167400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:71162200-71167400	Weak transcription	Small Intestine	intestine
14	chr9:71162200-71174800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr9:71162200-71175000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:71163000-71170400	Weak transcription	Fetal Kidney	kidney
17	chr9:71163200-71165800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:71163200-71168000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr9:71163400-71165600	Weak transcription	Right Atrium	heart
20	chr9:71163600-71165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:71163600-71170400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:71163800-71165800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr9:71163800-71166000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:71164000-71165600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr9:71164400-71165800	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr9:71164800-71166000	Weak transcription	Colon Smooth Muscle	Colon
27	chr9:71165000-71165400	Weak transcription	Fetal Intestine Large	intestine
28	chr9:71165000-71165400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr9:71165200-71166000	Weak transcription	Primary B cells from cord blood	blood

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