Variant report

Variant	rs8128611
Chromosome Location	chr21:46454434-46454435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46451994..46454639-chr21:46586058..46587723,2	K562	blood:
2	chr21:46408833..46410367-chr21:46454035..46455709,2	MCF-7	breast:
3	chr21:46438270..46441170-chr21:46454432..46456069,2	MCF-7	breast:
4	chr21:46439551..46442292-chr21:46453703..46456078,2	K562	blood:
5	chr21:46450570..46454441-chr21:46490790..46494874,4	MCF-7	breast:
6	chr21:46452367..46454538-chr21:46493648..46496547,2	K562	blood:

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2838756	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8129133	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46449000-46455800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr21:46449200-46455000	Bivalent Enhancer	Fetal Stomach	stomach
3	chr21:46449200-46455200	Enhancers	Right Atrium	heart
4	chr21:46449800-46455200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr21:46449800-46455200	Enhancers	Left Ventricle	heart
6	chr21:46451400-46455000	Enhancers	Right Ventricle	heart
7	chr21:46451800-46462200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:46452400-46454800	Enhancers	Fetal Thymus	thymus
9	chr21:46452400-46455000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:46452400-46455200	Enhancers	Aorta	Aorta
11	chr21:46452600-46455200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr21:46453000-46455200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr21:46453000-46455200	Enhancers	Psoas Muscle	Psoas
14	chr21:46453000-46455200	Enhancers	HSMMtube	muscle
15	chr21:46453000-46455600	Enhancers	Fetal Heart	heart
16	chr21:46453200-46454600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr21:46453200-46455000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr21:46453200-46455600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:46453400-46454600	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr21:46453400-46460800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr21:46453600-46454600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:46453600-46454600	Enhancers	NHDF-Ad	bronchial
23	chr21:46453600-46454800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr21:46453600-46455000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr21:46453800-46454600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:46453800-46454600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr21:46453800-46454600	Flanking Active TSS	Fetal Lung	lung
28	chr21:46453800-46454600	Bivalent Enhancer	NHEK	skin
29	chr21:46453800-46454800	Bivalent Enhancer	Colonic Mucosa	Colon
30	chr21:46453800-46454800	Enhancers	HMEC	breast
31	chr21:46453800-46455400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:46454000-46454600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:46454000-46454600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr21:46454000-46454800	Enhancers	Rectal Smooth Muscle	rectum
35	chr21:46454000-46455200	Enhancers	Esophagus	oesophagus
36	chr21:46454200-46454800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr21:46454200-46454800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
38	chr21:46454200-46454800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr21:46454200-46454800	Enhancers	Ovary	ovary
40	chr21:46454200-46454800	Enhancers	HSMM	muscle
41	chr21:46454200-46454800	Bivalent Enhancer	Osteobl	bone
42	chr21:46454200-46455000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:46454200-46455400	Enhancers	Fetal Muscle Leg	muscle
44	chr21:46454400-46454600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr21:46454400-46454600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr21:46454400-46454600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
47	chr21:46454400-46454600	Flanking Active TSS	Fetal Brain Male	brain
48	chr21:46454400-46454600	Flanking Bivalent TSS/Enh	NHLF	lung
49	chr21:46454400-46454800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:46454400-46454800	Enhancers	Spleen	Spleen

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