Variant report

Variant	rs7276779
Chromosome Location	chr21:46451257-46451258
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46446924..46449567-chr21:46450451..46452982,2	MCF-7	breast:
2	chr21:46451089..46452987-chr21:46493122..46494689,2	K562	blood:
3	chr21:46450068..46453536-chr21:46454953..46460100,5	MCF-7	breast:
4	chr21:46450570..46454441-chr21:46490790..46494874,4	MCF-7	breast:
5	chr21:46432319..46434906-chr21:46450919..46453400,2	K562	blood:

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6518208	0.85[EUR][1000 genomes]
rs71324403	0.83[EUR][1000 genomes]
rs71324404	0.90[EUR][1000 genomes]
rs9978923	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv587832	chr21:46448003-46451705	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46438600-46453000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46439400-46452200	Weak transcription	Esophagus	oesophagus
3	chr21:46446600-46451400	Weak transcription	Ovary	ovary
4	chr21:46446800-46452400	Weak transcription	Aorta	Aorta
5	chr21:46449000-46455800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr21:46449200-46451800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:46449200-46452000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:46449200-46452400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr21:46449200-46452600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:46449200-46453200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:46449200-46453600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr21:46449200-46455000	Bivalent Enhancer	Fetal Stomach	stomach
13	chr21:46449200-46455200	Enhancers	Right Atrium	heart
14	chr21:46449400-46451800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:46449400-46452000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr21:46449400-46452000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr21:46449400-46453000	Weak transcription	Fetal Heart	heart
18	chr21:46449400-46453200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr21:46449600-46451600	Enhancers	Pancreas	Pancrea
20	chr21:46449600-46453800	Weak transcription	Colon Smooth Muscle	Colon
21	chr21:46449800-46455200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr21:46449800-46455200	Enhancers	Left Ventricle	heart
23	chr21:46450000-46451400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr21:46450000-46451400	Enhancers	Placenta	Placenta
25	chr21:46450000-46452200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:46450000-46452600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:46450200-46451600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr21:46450400-46452000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:46450400-46452000	Enhancers	Stomach Smooth Muscle	stomach
30	chr21:46450400-46453200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:46450600-46451800	Enhancers	Brain Substantia Nigra	brain
32	chr21:46450600-46452200	Enhancers	Liver	Liver
33	chr21:46450600-46452600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:46450800-46451800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr21:46450800-46452000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr21:46450800-46452200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr21:46450800-46452600	Enhancers	Spleen	Spleen
38	chr21:46450800-46453000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:46450800-46453600	Weak transcription	NHDF-Ad	bronchial
40	chr21:46450800-46453800	Enhancers	Fetal Lung	lung
41	chr21:46451000-46451400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr21:46451000-46451400	Enhancers	Fetal Kidney	kidney
43	chr21:46451000-46451400	Enhancers	HUVEC	blood vessel
44	chr21:46451000-46451600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr21:46451000-46451600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:46451000-46451600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr21:46451000-46452000	Enhancers	Primary hematopoietic stem cells	blood
48	chr21:46451000-46452400	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr21:46451000-46453000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr21:46451000-46453200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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