Variant report

Variant	rs9975557
Chromosome Location	chr21:47058300-47058301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47057929..47060288-chr21:47187277..47188935,2	MCF-7	breast:
2	chr21:47015065..47016707-chr21:47057215..47058821,2	K562	blood:
3	chr21:47054633..47058675-chr21:47062386..47065972,3	K562	blood:

Variant related genes	Relation type
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1057807	chr21:46656346-47077374	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2762114	chr21:46680202-47067744	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
5	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
6	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
7	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
8	nsv914077	chr21:46998548-47091361	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
9	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
10	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
11	nsv587864	chr21:47053453-47070718	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
12	esv3358497	chr21:47055574-47058372	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47052600-47059000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr21:47052800-47058400	Weak transcription	Primary T cells from cord blood	blood
3	chr21:47055400-47058600	Weak transcription	HSMMtube	muscle
4	chr21:47055400-47058800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr21:47055800-47058600	Enhancers	Fetal Thymus	thymus
6	chr21:47056400-47063600	Weak transcription	K562	blood
7	chr21:47056600-47059600	Weak transcription	Fetal Heart	heart
8	chr21:47056600-47060000	Weak transcription	Gastric	stomach
9	chr21:47056600-47061400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr21:47056600-47063600	Weak transcription	Pancreas	Pancrea
11	chr21:47056800-47059800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:47056800-47061400	Enhancers	Thymus	Thymus
13	chr21:47057000-47060200	Weak transcription	Lung	lung
14	chr21:47057200-47059200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:47057200-47059400	Weak transcription	Spleen	Spleen
16	chr21:47057200-47061400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:47058000-47058800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr21:47058000-47058800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr21:47058000-47058800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:47058000-47060200	Enhancers	GM12878-XiMat	blood
21	chr21:47058000-47060600	Enhancers	Dnd41	blood
22	chr21:47058000-47061000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr21:47058000-47061400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr21:47058200-47058800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr21:47058200-47058800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr21:47058200-47059200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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