Variant report

Variant	rs56228651
Chromosome Location	chr9:71148140-71148141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55690755	1.00[EUR][1000 genomes]
rs55816330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56975451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6560235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7023734	1.00[EUR][1000 genomes]
rs7035001	1.00[EUR][1000 genomes]
rs7040195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646704	1.00[AMR][1000 genomes]
rs73646705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7875927	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427847	chr9:70318730-71153527	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71131000-71152600	Weak transcription	NHLF	lung
2	chr9:71137600-71156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:71138400-71148400	Weak transcription	Esophagus	oesophagus
4	chr9:71139600-71161600	Weak transcription	Spleen	Spleen
5	chr9:71141400-71151800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr9:71145200-71148200	Weak transcription	Right Atrium	heart
7	chr9:71145400-71148800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr9:71145800-71148400	Weak transcription	Psoas Muscle	Psoas
9	chr9:71145800-71148400	Weak transcription	Right Ventricle	heart
10	chr9:71145800-71151800	Weak transcription	Aorta	Aorta
11	chr9:71145800-71161600	Weak transcription	Gastric	stomach
12	chr9:71146000-71148600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr9:71146000-71149000	Strong transcription	Fetal Lung	lung
14	chr9:71146200-71148200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:71146200-71148400	Weak transcription	Fetal Kidney	kidney
16	chr9:71146200-71155400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:71146400-71148400	Genic enhancers	Stomach Smooth Muscle	stomach
18	chr9:71146400-71151600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:71146400-71151800	Weak transcription	Placenta	Placenta
20	chr9:71146400-71151800	Weak transcription	Stomach Mucosa	stomach
21	chr9:71146400-71156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:71146600-71148400	Weak transcription	Fetal Heart	heart
23	chr9:71146600-71151800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:71146800-71148200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:71146800-71150000	Enhancers	Fetal Muscle Leg	muscle
26	chr9:71147200-71148200	Weak transcription	Fetal Stomach	stomach
27	chr9:71147400-71148400	Weak transcription	Fetal Intestine Small	intestine
28	chr9:71147400-71148600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr9:71147400-71148600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr9:71147600-71148400	Weak transcription	Left Ventricle	heart
31	chr9:71147800-71148200	Weak transcription	Fetal Intestine Large	intestine
32	chr9:71148000-71148200	Enhancers	Primary B cells from cord blood	blood
33	chr9:71148000-71149600	Enhancers	HSMMtube	muscle
34	chr9:71148000-71153800	Enhancers	Colon Smooth Muscle	Colon
35	chr9:71148000-71153800	Enhancers	Rectal Smooth Muscle	rectum

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