Variant report

Variant	rs113012817
Chromosome Location	chr21:44707511-44707512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44706630..44710159-chr21:44845501..44847400,4	MCF-7	breast:
2	chr21:44699022..44704261-chr21:44706186..44710615,5	MCF-7	breast:
3	chr21:44707328..44709243-chr21:44761426..44763987,2	MCF-7	breast:
4	chr21:44628231..44629803-chr21:44707259..44708840,2	MCF-7	breast:
5	chr21:44706813..44710200-chr21:44846120..44848407,3	MCF-7	breast:
6	chr21:44707026..44709584-chr21:44711825..44714234,4	MCF-7	breast:
7	chr21:44621829..44623825-chr21:44707236..44708911,2	MCF-7	breast:
8	chr21:44705161..44709100-chr21:44718607..44720548,3	MCF-7	breast:
9	chr21:44706940..44709706-chr21:44752216..44754417,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv913833	chr21:44690691-44728354	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv913834	chr21:44705881-44730990	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv913835	chr21:44705881-44749141	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44696800-44709000	Weak transcription	Gastric	stomach
2	chr21:44703000-44708000	Weak transcription	Brain Germinal Matrix	brain
3	chr21:44706000-44708800	Enhancers	Fetal Thymus	thymus
4	chr21:44706200-44707600	Flanking Active TSS	Dnd41	blood
5	chr21:44706200-44708200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:44706400-44707800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:44706600-44707800	Enhancers	HSMM	muscle
8	chr21:44706800-44707800	Enhancers	HepG2	liver
9	chr21:44706800-44708800	Enhancers	Adipose Nuclei	Adipose
10	chr21:44706800-44708800	Enhancers	A549	lung
11	chr21:44707000-44708000	Enhancers	Hela-S3	cervix
12	chr21:44707000-44708400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr21:44707000-44708600	Enhancers	Fetal Muscle Leg	muscle
14	chr21:44707000-44708800	Enhancers	HSMMtube	muscle
15	chr21:44707000-44709000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:44707000-44709000	Enhancers	Fetal Muscle Trunk	muscle
17	chr21:44707000-44709200	Enhancers	Fetal Intestine Large	intestine
18	chr21:44707200-44707600	Enhancers	GM12878-XiMat	blood
19	chr21:44707200-44708200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:44707200-44708200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr21:44707200-44708200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr21:44707200-44708800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:44707200-44708800	Enhancers	Placenta	Placenta
24	chr21:44707200-44709000	Enhancers	Fetal Intestine Small	intestine
25	chr21:44707200-44709600	Enhancers	Pancreas	Pancrea
26	chr21:44707200-44710000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:44707400-44707600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr21:44707400-44708800	Enhancers	Stomach Mucosa	stomach
29	chr21:44707400-44710000	Weak transcription	Thymus	Thymus
30	chr21:44707400-44710200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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