Variant report

Variant	rs115950954
Chromosome Location	chr2:209228788-209228789
allele	A/T
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	GATA3	chr2:209228048-209228804	A549	lung:	n/a	n/a
2	GATA3	chr2:209227820-209228805	SK-N-SH	brain:	n/a	n/a
3	FOSL2	chr2:209228123-209228794	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr2:209227807-209228894	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr2:209228013-209228823	MCF-7	breast:	n/a	n/a
6	PBX3	chr2:209227997-209228794	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr2:209227952-209228797	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr2:209227944-209228854	SK-N-SH	brain:	n/a	n/a
9	FOXM1	chr2:209227912-209228789	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000213081	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv437315	chr2:209204714-209249613	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv997721	chr2:209228673-209247209	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1006323	chr2:209228673-209247384	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209220200-209229800	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:209220200-209235200	Weak transcription	K562	blood
3	chr2:209221800-209231200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:209224800-209234200	Weak transcription	Placenta	Placenta
5	chr2:209226000-209230200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:209226000-209230800	Weak transcription	Spleen	Spleen
7	chr2:209226000-209234200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:209227400-209229200	Enhancers	NHDF-Ad	bronchial
9	chr2:209227600-209229200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:209227600-209229200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:209227800-209228800	Enhancers	HSMMtube	muscle
12	chr2:209227800-209229000	Enhancers	HMEC	breast
13	chr2:209227800-209229200	Enhancers	NHLF	lung
14	chr2:209228000-209228800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:209228000-209228800	Enhancers	GM12878-XiMat	blood
16	chr2:209228000-209228800	Enhancers	NHEK	skin
17	chr2:209228000-209228800	Enhancers	Osteobl	bone
18	chr2:209228000-209229000	Enhancers	Hela-S3	cervix
19	chr2:209228200-209231200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:209228400-209229000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:209228400-209229200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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