Variant report

Variant	rs5749688
Chromosome Location	chr22:34272754-34272755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:34272719-34272769	GM10248	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34270457..34273179-chr22:34316799..34318425,2	MCF-7	breast:

Variant related genes	Relation type
LARGE	TF binding region
ENSG00000273082	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2267310	0.82[ASN][1000 genomes]
rs7287612	0.82[ASN][1000 genomes]
rs9621795	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv588938	chr22:34270568-34307875	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34264800-34279400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:34269000-34273200	Enhancers	Brain Hippocampus Middle	brain
3	chr22:34269000-34273600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr22:34269200-34273000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:34269200-34273200	Enhancers	Brain Angular Gyrus	brain
6	chr22:34269200-34273800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr22:34269400-34273400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr22:34269600-34273600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr22:34269800-34275400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:34269800-34279600	Weak transcription	Esophagus	oesophagus
11	chr22:34270000-34279000	Weak transcription	Pancreas	Pancrea
12	chr22:34270000-34279000	Weak transcription	GM12878-XiMat	blood
13	chr22:34270200-34273400	Enhancers	Fetal Heart	heart
14	chr22:34270200-34278800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr22:34270200-34285600	Weak transcription	Aorta	Aorta
16	chr22:34270400-34278400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:34270600-34272800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr22:34271000-34273200	Enhancers	Brain Cingulate Gyrus	brain
19	chr22:34271000-34279400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr22:34271600-34279200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr22:34271600-34287400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr22:34271800-34277800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr22:34271800-34279400	Weak transcription	Gastric	stomach
24	chr22:34272000-34275600	Weak transcription	Colon Smooth Muscle	Colon
25	chr22:34272000-34279000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:34272000-34280400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:34272200-34273200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr22:34272200-34273600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr22:34272200-34275800	Weak transcription	Right Atrium	heart
30	chr22:34272200-34279000	Weak transcription	Spleen	Spleen
31	chr22:34272200-34279800	Weak transcription	Brain Anterior Caudate	brain
32	chr22:34272400-34272800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:34272400-34273000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:34272400-34273000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:34272400-34273800	Weak transcription	Stomach Mucosa	stomach
36	chr22:34272400-34274600	Weak transcription	Fetal Brain Female	brain
37	chr22:34272400-34276000	Weak transcription	Fetal Brain Male	brain
38	chr22:34272400-34276400	Weak transcription	Left Ventricle	heart
39	chr22:34272400-34277600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr22:34272400-34278800	Weak transcription	Right Ventricle	heart
41	chr22:34272600-34273000	Weak transcription	Psoas Muscle	Psoas
42	chr22:34272600-34274400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr22:34272600-34278800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:34272600-34279400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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