Variant report

Variant	rs72715045
Chromosome Location	chr8:124819171-124819172
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr8:124818901-124819208	HepG2	liver:	n/a	n/a
2	CEBPB	chr8:124818902-124819212	HepG2	liver:	n/a	n/a
3	FOXA1	chr8:124818817-124819285	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124814412..124816720-chr8:124818333..124820559,2	MCF-7	breast:
2	chr8:124818284..124820707-chr8:125487320..125489749,2	K562	blood:
3	chr8:124817123..124819367-chr8:124820502..124822341,2	K562	blood:

Variant related genes	Relation type
FAM91A1	TF binding region
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 56 )
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]
rs72715049	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:3 , 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
2	nsv972575	chr8:124810138-124821383	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv972254	chr8:124818093-124822653	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 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	chr8:124787000-124822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:124789200-124824600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:124789400-124821600	Weak transcription	Stomach Mucosa	stomach
9	chr8:124789400-124825200	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr8:124789800-124827400	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:124790000-124827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:124790200-124828600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:124790800-124825200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:124791000-124828600	Strong transcription	Primary B cells from cord blood	blood
15	chr8:124791000-124828600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr8:124791200-124828600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:124791200-124828600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr8:124791200-124829000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:124791200-124829200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:124794200-124825000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr8:124797800-124826000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:124798400-124826400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:124799400-124821400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:124799600-124822600	Weak transcription	Small Intestine	intestine
25	chr8:124800200-124822600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:124806800-124828400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:124808200-124825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:124808400-124819400	Weak transcription	Spleen	Spleen
29	chr8:124808400-124820000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:124808400-124831600	Weak transcription	Esophagus	oesophagus
31	chr8:124808600-124819200	Weak transcription	Fetal Heart	heart
32	chr8:124808600-124822800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:124809000-124819400	Weak transcription	Right Ventricle	heart
34	chr8:124809200-124819600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:124809800-124819200	Weak transcription	Aorta	Aorta
36	chr8:124809800-124833600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:124810200-124829600	Weak transcription	Pancreas	Pancrea
38	chr8:124810600-124819400	Weak transcription	Fetal Stomach	stomach
39	chr8:124810600-124831600	Weak transcription	Gastric	stomach
40	chr8:124811600-124830400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr8:124812600-124821000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:124812800-124829800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:124813000-124830600	Weak transcription	Colonic Mucosa	Colon
44	chr8:124813200-124829000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:124813400-124837600	Weak transcription	Brain Substantia Nigra	brain
46	chr8:124813600-124821400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:124813800-124820200	Weak transcription	Brain Anterior Caudate	brain
48	chr8:124814000-124826800	Weak transcription	Brain Germinal Matrix	brain
49	chr8:124814200-124826600	Weak transcription	Fetal Brain Female	brain
50	chr8:124814400-124819200	Weak transcription	A549	lung

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