Variant report

Variant	rs72722871
Chromosome Location	chr8:125213926-125213927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125211433..125214005-chr8:125215089..125216813,2	MCF-7	breast:
2	chr8:125211776..125214598-chr8:125216310..125218448,4	MCF-7	breast:
3	chr8:125192130..125196319-chr8:125210764..125213937,4	MCF-7	breast:
4	chr8:125050056..125052985-chr8:125210899..125215246,3	MCF-7	breast:
5	chr8:125152793..125154495-chr8:125211755..125214400,2	MCF-7	breast:
6	chr8:125208503..125210106-chr8:125213330..125215003,2	K562	blood:
7	chr8:125212409..125214102-chr8:125244609..125246382,2	MCF-7	breast:
8	chr8:125210718..125214512-chr8:125382414..125386370,9	MCF-7	breast:
9	chr8:125211750..125214142-chr8:125220839..125224672,3	MCF-7	breast:
10	chr8:125212588..125215990-chr8:125362115..125365671,3	MCF-7	breast:
11	chr8:125212532..125214364-chr8:125222208..125224705,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction
ENSG00000254249	Chromatin interaction
ENSG00000250727	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10095890	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11994044	0.86[EUR][1000 genomes]
rs16899417	0.87[AMR][1000 genomes]
rs28432990	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55880011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125206600-125214000	Weak transcription	Gastric	stomach
2	chr8:125207200-125215000	Enhancers	Fetal Lung	lung
3	chr8:125208600-125215000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:125208600-125215000	Enhancers	Psoas Muscle	Psoas
5	chr8:125209200-125214400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:125210200-125215400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr8:125210400-125214000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:125210600-125214000	Enhancers	K562	blood
9	chr8:125210600-125214200	Weak transcription	Spleen	Spleen
10	chr8:125211200-125214400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:125211200-125215200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr8:125211600-125214800	Enhancers	Fetal Muscle Leg	muscle
13	chr8:125211800-125214400	Enhancers	Esophagus	oesophagus
14	chr8:125211800-125214800	Enhancers	Left Ventricle	heart
15	chr8:125211800-125215000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:125212000-125214000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:125212000-125214800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:125212000-125215000	Enhancers	Right Ventricle	heart
19	chr8:125212400-125214200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:125212400-125214200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:125212600-125214200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:125212600-125214400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:125212800-125214600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:125212800-125215200	Enhancers	HUVEC	blood vessel
25	chr8:125213000-125214200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:125213200-125214400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:125213200-125214400	Weak transcription	Fetal Thymus	thymus
28	chr8:125213200-125214600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr8:125213200-125214800	Enhancers	Lung	lung
30	chr8:125213400-125215000	Enhancers	Right Atrium	heart
31	chr8:125213400-125216600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:125213400-125216800	Enhancers	A549	lung
33	chr8:125213400-125219400	Weak transcription	HSMMtube	muscle
34	chr8:125213400-125219800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:125213400-125220000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:125213600-125214200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:125213600-125214400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:125213600-125214800	Enhancers	Hela-S3	cervix
39	chr8:125213600-125216400	Weak transcription	NHDF-Ad	bronchial
40	chr8:125213800-125214800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:125213800-125214800	Enhancers	Fetal Heart	heart
42	chr8:125213800-125218200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:125213800-125220200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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