Variant report

Variant	rs200008287
Chromosome Location	chr22:27705939-27705940
allele	-/GG
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	ESR1	chr22:27705768-27705996	T-47D	breast:	n/a	n/a
2	ESR1	chr22:27705753-27706032	T-47D	breast:	n/a	n/a
3	ESR1	chr22:27705732-27706031	T-47D	breast:	n/a	n/a
4	ESR1	chr22:27705771-27706068	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27643403..27644410-chr22:27705456..27706322,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226741	TF binding region

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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27698600-27706200	Weak transcription	Brain Germinal Matrix	brain
2	chr22:27703400-27706200	Weak transcription	Fetal Brain Female	brain
3	chr22:27703400-27706800	Weak transcription	Fetal Intestine Large	intestine
4	chr22:27703600-27706200	Enhancers	Fetal Muscle Leg	muscle
5	chr22:27703600-27706800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:27704200-27708600	Weak transcription	Right Atrium	heart
7	chr22:27704600-27707600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:27705600-27706400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:27705600-27706400	Enhancers	Adipose Nuclei	Adipose
10	chr22:27705600-27708400	Enhancers	Fetal Brain Male	brain
11	chr22:27705800-27706000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:27705800-27706000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:27705800-27706000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr22:27705800-27706000	Bivalent Enhancer	Liver	Liver
15	chr22:27705800-27706200	Enhancers	Aorta	Aorta
16	chr22:27705800-27706800	Enhancers	Fetal Stomach	stomach
17	chr22:27705800-27707800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr22:27705800-27708400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr22:27705800-27709400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:27705800-27710800	Enhancers	Ovary	ovary

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