Variant report

Variant	rs116050591
Chromosome Location	chr22:34231744-34231745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34226044..34229431-chr22:34231299..34234951,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1064781	chr22:34152145-34231792	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34200600-34234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr22:34213200-34232200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:34219800-34231800	Weak transcription	Aorta	Aorta
4	chr22:34224800-34232000	Weak transcription	Fetal Intestine Small	intestine
5	chr22:34226600-34246200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr22:34228600-34232200	Weak transcription	Spleen	Spleen
7	chr22:34228600-34234000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:34228600-34234800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:34228800-34240000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:34229000-34232200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:34229000-34232200	Weak transcription	Lung	lung
12	chr22:34229000-34232200	Weak transcription	Pancreas	Pancrea
13	chr22:34229000-34233400	Weak transcription	Ovary	ovary
14	chr22:34229000-34233600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:34229000-34233800	Weak transcription	Brain Anterior Caudate	brain
16	chr22:34229000-34234600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:34229600-34232200	Weak transcription	Gastric	stomach
18	chr22:34230000-34234200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr22:34230200-34234000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr22:34230600-34232600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr22:34230600-34232600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr22:34230800-34232000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:34230800-34232000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:34230800-34232200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr22:34230800-34232400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr22:34230800-34232400	Enhancers	Fetal Stomach	stomach
27	chr22:34230800-34232600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr22:34230800-34232800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr22:34230800-34234000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr22:34230800-34234200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr22:34230800-34234400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr22:34231000-34231800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:34231000-34232200	Enhancers	Fetal Brain Male	brain
34	chr22:34231000-34232200	Enhancers	Fetal Brain Female	brain
35	chr22:34231000-34232200	Enhancers	Rectal Smooth Muscle	rectum
36	chr22:34231000-34232400	Enhancers	Colon Smooth Muscle	Colon
37	chr22:34231000-34233000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr22:34231000-34236000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr22:34231200-34232200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr22:34231200-34232200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr22:34231200-34232800	Enhancers	Brain Hippocampus Middle	brain
42	chr22:34231200-34233000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:34231200-34233200	Enhancers	Fetal Muscle Leg	muscle
44	chr22:34231200-34233600	Enhancers	Psoas Muscle	Psoas
45	chr22:34231200-34234000	Enhancers	Right Ventricle	heart
46	chr22:34231400-34231800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr22:34231400-34231800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:34231400-34231800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr22:34231400-34231800	Enhancers	Fetal Intestine Large	intestine
50	chr22:34231400-34232000	Enhancers	Esophagus	oesophagus

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