Variant report

Variant	rs7280646
Chromosome Location	chr21:44511268-44511269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44510965..44512706-chr21:44514600..44516478,2	MCF-7	breast:
2	chr21:44509817..44513729-chr21:44517200..44522603,7	MCF-7	breast:
3	chr21:44511158..44513677-chr21:44522625..44525144,3	MCF-7	breast:
4	chr21:44506861..44515364-chr21:44524356..44529506,14	MCF-7	breast:
5	chr21:44495460..44498826-chr21:44510394..44512790,3	MCF-7	breast:
6	chr21:44393777..44397544-chr21:44511204..44516810,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160201	Chromatin interaction
ENSG00000160199	Chromatin interaction
ENSG00000160200	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11910157	1.00[AMR][1000 genomes]
rs11910165	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34576088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7275976	1.00[MEX][hapmap]
rs73906432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv949119	chr21:44360107-44559195	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv1827985	chr21:44447198-44596778	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv510800	chr21:44451203-44513910	Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv913828	chr21:44471692-44598827	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
6	nsv459279	chr21:44508020-44569153	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv587663	chr21:44508020-44569153	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44496000-44513200	Weak transcription	Hela-S3	cervix
2	chr21:44497000-44512200	Weak transcription	Gastric	stomach
3	chr21:44497200-44512000	Weak transcription	Fetal Kidney	kidney
4	chr21:44497200-44512200	Weak transcription	Liver	Liver
5	chr21:44497200-44512200	Weak transcription	Right Ventricle	heart
6	chr21:44497400-44512000	Weak transcription	Brain Hippocampus Middle	brain
7	chr21:44497400-44512200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:44497400-44512200	Weak transcription	Brain Angular Gyrus	brain
9	chr21:44500600-44512000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr21:44500600-44512600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:44500600-44524000	Weak transcription	Right Atrium	heart
12	chr21:44500800-44511800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:44500800-44512200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:44500800-44512200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr21:44501000-44512000	Weak transcription	Ovary	ovary
16	chr21:44501000-44512200	Weak transcription	NHDF-Ad	bronchial
17	chr21:44501000-44512400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:44501000-44512400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:44501000-44512400	Weak transcription	K562	blood
20	chr21:44501000-44515600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr21:44501200-44513600	Weak transcription	Fetal Brain Male	brain
22	chr21:44503200-44512000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:44503200-44512400	Weak transcription	HSMMtube	muscle
24	chr21:44503400-44512200	Weak transcription	HepG2	liver
25	chr21:44503600-44511600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr21:44503800-44512000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr21:44504000-44512000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr21:44504000-44512200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:44504000-44512400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr21:44504200-44512000	Weak transcription	Pancreas	Pancrea
31	chr21:44504200-44512200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr21:44504600-44512600	Weak transcription	Small Intestine	intestine
33	chr21:44505200-44512200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr21:44505800-44512200	Weak transcription	Lung	lung
35	chr21:44506000-44512200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr21:44506000-44512200	Weak transcription	Left Ventricle	heart
37	chr21:44506000-44512200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr21:44506200-44511800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr21:44507000-44512000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr21:44507000-44512000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr21:44507000-44512000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr21:44507000-44512200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr21:44507000-44512200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr21:44507000-44512400	Weak transcription	Osteobl	bone
45	chr21:44507200-44511400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr21:44507200-44511600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr21:44507200-44512000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr21:44507200-44512000	Weak transcription	Primary B cells from cord blood	blood
49	chr21:44507200-44512400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr21:44507200-44513400	Weak transcription	NH-A	brain

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