Variant report

Variant	rs56131192
Chromosome Location	chr22:34278902-34278903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34276961..34279522-chr22:34313897..34317110,3	MCF-7	breast:
2	chr22:34277917..34281628-chr22:34285820..34288664,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs239324	1.00[AMR][1000 genomes]
rs239325	1.00[AMR][1000 genomes]
rs28784636	1.00[AMR][1000 genomes]
rs455010	1.00[AMR][1000 genomes]
rs55801274	1.00[AMR][1000 genomes]
rs56014601	1.00[AMR][1000 genomes]
rs7285791	1.00[AMR][1000 genomes]
rs73882334	0.83[AFR][1000 genomes]
rs73882344	1.00[AMR][1000 genomes]
rs73882350	1.00[AMR][1000 genomes]
rs73882370	1.00[AMR][1000 genomes]
rs73882371	1.00[AMR][1000 genomes]
rs73882377	1.00[AMR][1000 genomes]
rs73882378	1.00[AMR][1000 genomes]
rs73882381	1.00[AMR][1000 genomes]
rs8136301	1.00[AMR][1000 genomes]
rs8138170	1.00[AMR][1000 genomes]
rs9941966	1.00[AMR][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	chr22:34269800-34279600	Weak transcription	Esophagus	oesophagus
3	chr22:34270000-34279000	Weak transcription	Pancreas	Pancrea
4	chr22:34270000-34279000	Weak transcription	GM12878-XiMat	blood
5	chr22:34270200-34285600	Weak transcription	Aorta	Aorta
6	chr22:34271000-34279400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:34271600-34279200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:34271600-34287400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr22:34271800-34279400	Weak transcription	Gastric	stomach
10	chr22:34272000-34279000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:34272000-34280400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:34272200-34279000	Weak transcription	Spleen	Spleen
13	chr22:34272200-34279800	Weak transcription	Brain Anterior Caudate	brain
14	chr22:34272600-34279400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr22:34273200-34279400	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:34273200-34279400	Weak transcription	Psoas Muscle	Psoas
17	chr22:34273200-34292200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:34274600-34280800	Enhancers	Fetal Brain Female	brain
19	chr22:34274600-34291200	Enhancers	Fetal Heart	heart
20	chr22:34276000-34279200	Enhancers	Fetal Brain Male	brain
21	chr22:34276400-34281400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr22:34276600-34280400	Weak transcription	Colon Smooth Muscle	Colon
23	chr22:34277200-34279000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:34277400-34281200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr22:34277400-34281400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr22:34277600-34279000	Weak transcription	Left Ventricle	heart
27	chr22:34277600-34281600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr22:34277800-34281400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr22:34277800-34281800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr22:34278000-34285600	Weak transcription	Right Atrium	heart
31	chr22:34278200-34281000	Enhancers	Lung	lung
32	chr22:34278200-34281200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:34278200-34281400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr22:34278400-34279000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:34278400-34279800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr22:34278400-34280000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr22:34278400-34280000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:34278400-34280800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:34278400-34281000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr22:34278600-34280000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr22:34278800-34279600	Enhancers	Ovary	ovary
42	chr22:34278800-34280400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:34278800-34280600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr22:34278800-34281200	Enhancers	Right Ventricle	heart

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