Variant report

Variant	rs139668054
Chromosome Location	chr22:34154795-34154796
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1055203	chr22:34098417-34196685	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	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
8	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv588937	chr22:34144823-34156607	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	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
14	nsv529885	chr22:34150132-34182300	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	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
16	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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34124800-34171000	Weak transcription	Ovary	ovary
2	chr22:34126200-34176200	Weak transcription	Spleen	Spleen
3	chr22:34134400-34164800	Weak transcription	Brain Anterior Caudate	brain
4	chr22:34138000-34160800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:34143400-34160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:34147400-34158400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:34147400-34168600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:34149200-34167000	Weak transcription	Brain Angular Gyrus	brain
9	chr22:34150800-34154800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:34150800-34155000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:34151000-34155000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:34151400-34155600	Enhancers	Fetal Heart	heart
13	chr22:34151800-34155000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr22:34151800-34159000	Weak transcription	Fetal Intestine Large	intestine
15	chr22:34151800-34167000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:34152000-34158400	Weak transcription	Fetal Intestine Small	intestine
17	chr22:34152200-34156800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr22:34152400-34155000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:34152400-34155400	Enhancers	Liver	Liver
20	chr22:34152600-34154800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr22:34152600-34154800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr22:34152600-34154800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:34152600-34154800	Enhancers	Left Ventricle	heart
24	chr22:34152600-34155200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr22:34153200-34164800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:34153400-34158400	Weak transcription	Aorta	Aorta
27	chr22:34153400-34169000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:34153600-34155600	Enhancers	HepG2	liver
29	chr22:34153600-34160200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:34153800-34155000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr22:34154000-34157800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr22:34154200-34155000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr22:34154200-34155800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr22:34154200-34158400	Weak transcription	Pancreas	Pancrea
35	chr22:34154200-34169600	Weak transcription	Psoas Muscle	Psoas
36	chr22:34154400-34160600	Weak transcription	Fetal Muscle Leg	muscle
37	chr22:34154400-34165200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr22:34154400-34166400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr22:34154400-34167200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:34154400-34171000	Weak transcription	Colon Smooth Muscle	Colon
41	chr22:34154400-34175800	Weak transcription	Fetal Stomach	stomach
42	chr22:34154400-34176000	Weak transcription	Gastric	stomach
43	chr22:34154600-34154800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:34154600-34154800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr22:34154600-34157800	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:34154600-34157800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr22:34154600-34162000	Weak transcription	Right Ventricle	heart

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