Variant report

Variant	rs72713030
Chromosome Location	chr8:125466360-125466361
allele	G/T
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125459763..125466513-chr8:125482159..125488968,22	K562	blood:
2	chr8:125459763..125466594-chr8:125480347..125488760,16	K562	blood:
3	chr8:125465079..125467073-chr8:125471633..125474192,2	K562	blood:
4	chr8:125461877..125466400-chr8:125548792..125551961,4	MCF-7	breast:
5	chr8:125458853..125460594-chr8:125466039..125468256,2	K562	blood:
6	chr8:125461480..125466921-chr8:125547850..125552862,10	MCF-7	breast:
7	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000147687	Chromatin interaction

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

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

rs_ID	r²[population]
rs17298171	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72713023	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72713059	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72713102	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv891431	chr8:125437811-125485027	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv891432	chr8:125438093-125485027	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125463800-125483800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:125464000-125474600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr8:125464000-125484800	Weak transcription	Aorta	Aorta
4	chr8:125464000-125485000	Weak transcription	Fetal Kidney	kidney
5	chr8:125464200-125466400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr8:125464200-125466600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:125464200-125466800	Enhancers	Colon Smooth Muscle	Colon
8	chr8:125464200-125467000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:125464400-125466400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:125464400-125466400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:125464400-125467000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr8:125464400-125479600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:125464600-125466600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr8:125464600-125466600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr8:125464600-125466800	Enhancers	Adipose Nuclei	Adipose
16	chr8:125464600-125466800	Weak transcription	Left Ventricle	heart
17	chr8:125464600-125467200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:125464600-125467400	Weak transcription	NHEK	skin
19	chr8:125464600-125467800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:125464600-125467800	Weak transcription	Brain Substantia Nigra	brain
21	chr8:125464600-125468000	Weak transcription	Placenta	Placenta
22	chr8:125464600-125468200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:125464600-125469400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:125464600-125470000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:125464600-125470600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:125464600-125473200	Weak transcription	Right Atrium	heart
27	chr8:125464600-125474200	Weak transcription	Fetal Intestine Small	intestine
28	chr8:125464600-125474400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:125464600-125475600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:125464600-125477600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:125464600-125478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:125464600-125478600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:125464600-125483200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:125464600-125484600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:125464600-125485200	Weak transcription	Colonic Mucosa	Colon
36	chr8:125464600-125485800	Weak transcription	Esophagus	oesophagus
37	chr8:125464600-125486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:125464800-125466600	Weak transcription	Thymus	Thymus
39	chr8:125464800-125468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:125464800-125472000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:125464800-125475600	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:125464800-125478400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:125464800-125478600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:125464800-125484600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:125464800-125484800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:125464800-125485400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:125465000-125467800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:125465000-125474400	Weak transcription	Brain Germinal Matrix	brain
49	chr8:125465000-125475200	Weak transcription	Fetal Thymus	thymus
50	chr8:125465000-125475400	Weak transcription	Primary monocytes fromperipheralblood	blood

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