Variant report

Variant	rs11703980
Chromosome Location	chr22:28838721-28838722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28447447..28448524-chr22:28837980..28838886,4	K562	blood:
2	chr22:28648825..28649894-chr22:28838031..28838826,8	MCF-7	breast:
3	chr22:28508644..28509412-chr22:28838027..28838971,3	MCF-7	breast:
4	chr22:28415494..28416454-chr22:28838189..28838855,4	MCF-7	breast:
5	chr22:28416092..28416754-chr22:28837943..28838869,2	K562	blood:
6	chr22:28447496..28448401-chr22:28837962..28838861,4	MCF-7	breast:
7	chr22:28447530..28448237-chr22:28837942..28838802,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17502181	0.83[AMR][1000 genomes]
rs1997958	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2346395	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73170603	0.87[AFR][1000 genomes]
rs9608677	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9613640	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9613654	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription 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 miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28833400-28840000	Active TSS	Fetal Brain Female	brain
2	chr22:28836800-28839600	Active TSS	Ovary	ovary
3	chr22:28837000-28839200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:28837200-28840000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr22:28837400-28838800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr22:28837400-28839000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr22:28837400-28839800	Active TSS	Aorta	Aorta
8	chr22:28837400-28839800	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr22:28837600-28838800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr22:28837600-28838800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr22:28837600-28838800	Flanking Active TSS	NH-A	brain
12	chr22:28837600-28839200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:28837600-28839200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:28837600-28839200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr22:28837600-28839400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr22:28837600-28839400	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr22:28837600-28839800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr22:28837600-28839800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:28837600-28839800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr22:28837600-28839800	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr22:28837600-28839800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr22:28837600-28839800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:28837600-28839800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:28837600-28839800	Flanking Active TSS	Liver	Liver
25	chr22:28837600-28839800	Active TSS	Right Atrium	heart
26	chr22:28837600-28839800	Active TSS	Right Ventricle	heart
27	chr22:28837800-28838800	Active TSS	Brain Germinal Matrix	brain
28	chr22:28837800-28839000	Flanking Active TSS	NHEK	skin
29	chr22:28837800-28839200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr22:28837800-28839200	Flanking Active TSS	HSMM	muscle
31	chr22:28837800-28839200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr22:28837800-28839400	Active TSS	Dnd41	blood
33	chr22:28837800-28839600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr22:28837800-28839600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
35	chr22:28837800-28839600	Active TSS	Pancreas	Pancrea
36	chr22:28837800-28839800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr22:28837800-28839800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr22:28837800-28839800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:28837800-28839800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:28837800-28839800	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr22:28837800-28839800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:28837800-28839800	Active TSS	Brain Hippocampus Middle	brain
43	chr22:28837800-28839800	Active TSS	Colon Smooth Muscle	Colon
44	chr22:28837800-28839800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr22:28837800-28839800	Active TSS	Fetal Lung	lung
46	chr22:28837800-28839800	Active TSS	Left Ventricle	heart
47	chr22:28837800-28839800	Active TSS	Psoas Muscle	Psoas
48	chr22:28837800-28840000	Active TSS	Fetal Kidney	kidney
49	chr22:28837800-28840000	Flanking Active TSS	HUVEC	blood vessel
50	chr22:28838000-28839000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood

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