Variant report

Variant	rs115414247
Chromosome Location	chr22:27706246-27706247
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	chr22:27643403..27644410-chr22:27705456..27706322,3	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3406339	chr22:27705377-27707925	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27703400-27706800	Weak transcription	Fetal Intestine Large	intestine
2	chr22:27703600-27706800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:27704200-27708600	Weak transcription	Right Atrium	heart
4	chr22:27704600-27707600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:27705600-27706400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr22:27705600-27706400	Enhancers	Adipose Nuclei	Adipose
7	chr22:27705600-27708400	Enhancers	Fetal Brain Male	brain
8	chr22:27705800-27706800	Enhancers	Fetal Stomach	stomach
9	chr22:27705800-27707800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr22:27705800-27708400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr22:27705800-27709400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:27705800-27710800	Enhancers	Ovary	ovary
13	chr22:27706000-27706600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:27706000-27706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:27706000-27706800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:27706000-27708400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:27706000-27709200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:27706000-27709400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr22:27706000-27709600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:27706200-27707000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:27706200-27707000	Enhancers	Fetal Brain Female	brain
22	chr22:27706200-27707600	Enhancers	Brain Germinal Matrix	brain
23	chr22:27706200-27708000	Weak transcription	Aorta	Aorta
24	chr22:27706200-27708200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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