Variant report

Variant	rs72715049
Chromosome Location	chr8:124823592-124823593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124774301..124776211-chr8:124822631..124825115,2	MCF-7	breast:
2	chr8:124819621..124821524-chr8:124823128..124825244,2	MCF-7	breast:
3	chr8:124816253..124817960-chr8:124822217..124824038,2	K562	blood:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10089283	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106428	1.00[ASN][1000 genomes]
rs10505442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956150	0.82[ASN][1000 genomes]
rs11987328	1.00[ASN][1000 genomes]
rs11991217	1.00[ASN][1000 genomes]
rs11997795	1.00[ASN][1000 genomes]
rs11998231	1.00[ASN][1000 genomes]
rs1367826	1.00[ASN][1000 genomes]
rs1431667	0.82[ASN][1000 genomes]
rs1431668	0.82[ASN][1000 genomes]
rs16898889	1.00[ASN][1000 genomes]
rs1991696	0.82[ASN][1000 genomes]
rs1991698	0.82[ASN][1000 genomes]
rs2116354	0.82[ASN][1000 genomes]
rs2116355	0.82[ASN][1000 genomes]
rs2163529	0.82[ASN][1000 genomes]
rs2163530	0.82[ASN][1000 genomes]
rs2272684	1.00[ASN][1000 genomes]
rs28412991	1.00[ASN][1000 genomes]
rs28589482	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28701862	1.00[ASN][1000 genomes]
rs3889940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889941	1.00[ASN][1000 genomes]
rs3955482	0.82[ASN][1000 genomes]
rs6470188	0.82[ASN][1000 genomes]
rs67260918	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713164	0.90[ASN][1000 genomes]
rs72713165	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72715027	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715028	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715029	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715030	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715031	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715032	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715035	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72715037	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715039	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715055	1.00[ASN][1000 genomes]
rs72715056	1.00[ASN][1000 genomes]
rs72715057	1.00[ASN][1000 genomes]
rs72715061	1.00[ASN][1000 genomes]
rs72715064	1.00[ASN][1000 genomes]
rs72715069	1.00[ASN][1000 genomes]
rs7826622	0.82[ASN][1000 genomes]
rs7826644	0.82[ASN][1000 genomes]
rs9297677	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964059	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
3	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:124789200-124824600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:124789400-124825200	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr8:124789800-124827400	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:124790000-124827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:124790200-124828600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:124790800-124825200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:124791000-124828600	Strong transcription	Primary B cells from cord blood	blood
13	chr8:124791000-124828600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr8:124791200-124828600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:124791200-124828600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr8:124791200-124829000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:124791200-124829200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr8:124794200-124825000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr8:124797800-124826000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:124798400-124826400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:124806800-124828400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:124808200-124825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:124808400-124831600	Weak transcription	Esophagus	oesophagus
24	chr8:124809800-124833600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:124810200-124829600	Weak transcription	Pancreas	Pancrea
26	chr8:124810600-124831600	Weak transcription	Gastric	stomach
27	chr8:124811600-124830400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:124812800-124829800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:124813000-124830600	Weak transcription	Colonic Mucosa	Colon
30	chr8:124813200-124829000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:124813400-124837600	Weak transcription	Brain Substantia Nigra	brain
32	chr8:124814000-124826800	Weak transcription	Brain Germinal Matrix	brain
33	chr8:124814200-124826600	Weak transcription	Fetal Brain Female	brain
34	chr8:124814800-124837400	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:124815400-124825200	Strong transcription	Placenta	Placenta
36	chr8:124816400-124825400	Strong transcription	HUVEC	blood vessel
37	chr8:124816600-124825200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:124816800-124825200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr8:124816800-124825600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr8:124816800-124825600	Strong transcription	HSMM	muscle
41	chr8:124816800-124826800	Strong transcription	Dnd41	blood
42	chr8:124816800-124828800	Strong transcription	Adipose Nuclei	Adipose
43	chr8:124817000-124823800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:124817000-124824400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:124817000-124825200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr8:124817000-124825200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:124817000-124825200	Strong transcription	Osteobl	bone
48	chr8:124817000-124828800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:124817000-124829000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:124817200-124825200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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