Variant report

Variant	rs8133780
Chromosome Location	chr21:44906099-44906100
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44903235..44910338-chr21:44918042..44927375,22	MCF-7	breast:
2	chr21:44903994..44910512-chr21:44911444..44917945,16	MCF-7	breast:
3	chr21:44905229..44906871-chr21:44908618..44911233,2	MCF-7	breast:
4	chr21:44904650..44908076-chr21:44909449..44912203,3	K562	blood:
5	chr21:44847451..44851718-chr21:44905935..44909722,5	MCF-7	breast:
6	chr21:44855143..44857943-chr21:44904411..44907175,2	MCF-7	breast:
7	chr21:44838833..44841451-chr21:44904931..44907363,2	MCF-7	breast:
8	chr21:44596583..44597347-chr21:44905726..44906251,2	MCF-7	breast:
9	chr21:44904560..44907286-chr21:45077838..45080113,2	MCF-7	breast:
10	chr21:44903249..44906529-chr21:44908368..44910598,3	MCF-7	breast:
11	chr21:44868246..44872204-chr21:44905205..44908785,4	MCF-7	breast:
12	chr21:44905670..44908076-chr21:44909927..44912203,2	K562	blood:
13	chr21:44752256..44754915-chr21:44905785..44907789,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160208	Chromatin interaction
ENSG00000188660	Chromatin interaction
ENSG00000160207	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs162379	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs230641	0.88[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
5	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
6	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
7	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
9	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
11	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
12	nsv913872	chr21:44860542-44925334	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
14	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
16	nsv1061369	chr21:44886596-44931388	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv544468	chr21:44886596-44931388	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv1059264	chr21:44895863-44944515	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44898800-44907600	Weak transcription	NHEK	skin
2	chr21:44899000-44913400	Weak transcription	Right Atrium	heart
3	chr21:44900400-44913800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:44902600-44906400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:44902600-44907600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:44903800-44906800	Weak transcription	HepG2	liver
7	chr21:44904400-44907400	Enhancers	Fetal Muscle Leg	muscle
8	chr21:44904800-44906200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr21:44904800-44906200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr21:44904800-44906800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr21:44905200-44906600	Enhancers	Fetal Brain Female	brain
12	chr21:44905400-44906400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:44905400-44906800	Enhancers	HSMMtube	muscle
14	chr21:44905400-44907200	Enhancers	Hela-S3	cervix
15	chr21:44905600-44906200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:44905600-44906200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr21:44905600-44906400	Enhancers	Lung	lung
18	chr21:44905600-44906400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr21:44905600-44906600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:44905600-44906600	Enhancers	Gastric	stomach
21	chr21:44905600-44906600	Enhancers	Stomach Mucosa	stomach
22	chr21:44905600-44908000	Enhancers	A549	lung
23	chr21:44905800-44906200	Bivalent Enhancer	Adipose Nuclei	Adipose
24	chr21:44905800-44906400	Enhancers	Placenta	Placenta
25	chr21:44905800-44906400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr21:44905800-44906600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:44905800-44906600	Enhancers	Brain Germinal Matrix	brain
28	chr21:44905800-44906600	Enhancers	Esophagus	oesophagus
29	chr21:44905800-44906800	Enhancers	HSMM	muscle
30	chr21:44905800-44907400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr21:44906000-44906200	Enhancers	Fetal Stomach	stomach
32	chr21:44906000-44906400	Enhancers	Fetal Brain Male	brain
33	chr21:44906000-44906600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr21:44906000-44906600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr21:44906000-44906600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:44906000-44906800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:44906000-44909200	Enhancers	HMEC	breast

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