Variant report

Variant	rs8127514
Chromosome Location	chr21:46431532-46431533
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46427280..46433765-chr21:46493853..46497081,10	K562	blood:
2	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
3	chr21:46415743..46417606-chr21:46429062..46431909,2	MCF-7	breast:
4	chr21:46429413..46431796-chr21:46493278..46495031,2	MCF-7	breast:
5	chr21:46416275..46421174-chr21:46430809..46434600,6	MCF-7	breast:
6	chr21:46347104..46349159-chr21:46430144..46432316,3	MCF-7	breast:
7	chr21:46387032..46389639-chr21:46431264..46433004,2	K562	blood:
8	chr21:46429385..46432262-chr21:46434093..46436321,2	MCF-7	breast:
9	chr21:46430208..46435737-chr21:46488782..46498414,10	MCF-7	breast:
10	chr21:46425009..46428704-chr21:46430699..46434755,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000160255	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9980336	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription 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	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
8	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913984	chr21:46344426-46435610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv913990	chr21:46356816-46448142	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
19	nsv913993	chr21:46376528-46448142	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv913994	chr21:46376528-46454391	Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv913995	chr21:46376528-46466674	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	nsv913996	chr21:46383941-46459432	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
23	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv913998	chr21:46393090-46441947	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv587818	chr21:46396960-46448253	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv526277	chr21:46408790-46440385	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	esv1834255	chr21:46408790-46472929	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
28	esv1838717	chr21:46408790-46472929	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46414600-46431800	Weak transcription	Right Atrium	heart
2	chr21:46421800-46432200	Weak transcription	Esophagus	oesophagus
3	chr21:46426600-46432000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr21:46428600-46431600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr21:46429400-46432200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:46429400-46432400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:46429600-46432000	Enhancers	HMEC	breast
8	chr21:46429600-46432400	Enhancers	NHEK	skin
9	chr21:46429600-46433000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:46429600-46433800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:46429600-46435400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:46429800-46433800	Enhancers	Fetal Heart	heart
13	chr21:46429800-46434200	Enhancers	Placenta	Placenta
14	chr21:46430000-46431600	Genic enhancers	Hela-S3	cervix
15	chr21:46430000-46432200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:46430200-46432400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr21:46430200-46433000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:46430200-46433600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:46430400-46431800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:46430400-46432000	Weak transcription	Fetal Lung	lung
21	chr21:46430400-46432000	Enhancers	HepG2	liver
22	chr21:46430600-46432000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:46430600-46432000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr21:46430600-46433600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:46430800-46431600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:46430800-46431800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:46430800-46431800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:46430800-46432000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:46430800-46432000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:46430800-46432200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr21:46430800-46433800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:46430800-46434600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr21:46430800-46435000	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr21:46431000-46432000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:46431000-46433200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:46431000-46433600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr21:46431200-46432200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr21:46431400-46431800	Enhancers	HSMM	muscle
39	chr21:46431400-46433800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr21:46431400-46433800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr21:46431400-46433800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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