Variant report

Variant	rs8136373
Chromosome Location	chr22:31032881-31032882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31030552..31033273-chr22:31061698..31065017,4	MCF-7	breast:
2	chr22:31030338..31033016-chr22:31062140..31065480,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167065	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12169435	0.92[EUR][1000 genomes]
rs55866375	0.92[EUR][1000 genomes]
rs56217309	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60815431	0.92[EUR][1000 genomes]
rs67153574	1.00[EUR][1000 genomes]
rs7289904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170819	1.00[EUR][1000 genomes]
rs8138797	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9619126	0.92[EUR][1000 genomes]
rs9621053	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3374115	chr22:31030477-31033325	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31030600-31033000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:31030600-31033200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr22:31030600-31033200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr22:31030600-31033400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr22:31030600-31033400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr22:31030600-31033400	Flanking Active TSS	Colonic Mucosa	Colon
7	chr22:31030600-31033400	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr22:31030600-31034000	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr22:31030600-31034200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr22:31030600-31034200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr22:31030600-31034400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr22:31030800-31033200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr22:31030800-31033400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:31030800-31033400	Active TSS	Psoas Muscle	Psoas
15	chr22:31030800-31033600	Active TSS	Brain Anterior Caudate	brain
16	chr22:31031000-31033400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:31031000-31033600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr22:31031200-31033000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:31031200-31033000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr22:31031200-31033600	Flanking Active TSS	HMEC	breast
21	chr22:31031400-31033000	Active TSS	Brain Substantia Nigra	brain
22	chr22:31031400-31033200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr22:31031400-31033600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:31031400-31033600	Active TSS	NHDF-Ad	bronchial
25	chr22:31031600-31033600	Active TSS	Hela-S3	cervix
26	chr22:31031600-31033600	Active TSS	HSMMtube	muscle
27	chr22:31031600-31034200	Active TSS	HSMM	muscle
28	chr22:31031800-31033200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr22:31031800-31033200	Flanking Active TSS	NH-A	brain
30	chr22:31031800-31033200	Flanking Active TSS	NHLF	lung
31	chr22:31031800-31033400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr22:31031800-31033800	Flanking Active TSS	NHEK	skin
33	chr22:31031800-31034000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr22:31031800-31034000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr22:31032000-31033000	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr22:31032000-31033200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr22:31032000-31033200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:31032000-31033200	Flanking Active TSS	Esophagus	oesophagus
39	chr22:31032000-31033200	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr22:31032000-31033200	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr22:31032000-31033200	Flanking Active TSS	Fetal Stomach	stomach
42	chr22:31032000-31033200	Flanking Active TSS	Pancreas	Pancrea
43	chr22:31032000-31033200	Flanking Active TSS	Spleen	Spleen
44	chr22:31032000-31033400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:31032000-31033400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:31032000-31034000	Flanking Active TSS	HUVEC	blood vessel
47	chr22:31032000-31034000	Flanking Active TSS	Osteobl	bone
48	chr22:31032200-31033000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr22:31032200-31033000	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr22:31032200-31033000	Flanking Active TSS	Lung	lung

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