Variant report

Variant	rs72715027
Chromosome Location	chr8:124782841-124782842
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124781673..124784169-chr8:125486247..125488421,2	K562	blood:
2	chr8:124781580..124785011-chr8:124789529..124792359,3	K562	blood:
3	chr8:124762529..124765233-chr8:124782573..124785539,2	MCF-7	breast:
4	chr8:124284489..124287239-chr8:124781674..124783282,2	MCF-7	breast:
5	chr8:124286589..124288147-chr8:124780495..124782975,2	K562	blood:
6	chr8:124782700..124784359-chr8:125486882..125489322,2	MCF-7	breast:
7	chr8:124427993..124430634-chr8:124780278..124783215,3	MCF-7	breast:
8	chr8:124781412..124783619-chr8:124810704..124812373,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165156	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10089283	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106428	1.00[ASN][1000 genomes]
rs10505442	0.84[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	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28701862	1.00[ASN][1000 genomes]
rs3889940	0.84[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	0.84[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]
rs72715028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715029	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715030	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715031	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715032	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715035	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72715037	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715039	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715041	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715042	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715045	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715049	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715051	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715053	1.00[AMR][1000 genomes];0.84[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	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964059	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124779800-124783200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:124780000-124783200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:124781000-124783200	Active TSS	Right Atrium	heart
4	chr8:124781000-124783600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:124781200-124783000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:124781200-124783600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr8:124781200-124783600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:124781400-124783400	Enhancers	Stomach Mucosa	stomach
9	chr8:124781400-124783600	Flanking Active TSS	Dnd41	blood
10	chr8:124781400-124783600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:124781600-124783400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr8:124781600-124785600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:124781600-124790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:124781800-124783000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:124781800-124783000	Enhancers	Fetal Heart	heart
16	chr8:124781800-124783200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:124781800-124783600	Enhancers	Brain Cingulate Gyrus	brain
18	chr8:124781800-124783600	Enhancers	Brain Germinal Matrix	brain
19	chr8:124781800-124783600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:124781800-124783600	Enhancers	Pancreas	Pancrea
21	chr8:124781800-124783600	Enhancers	Spleen	Spleen
22	chr8:124781800-124785200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:124781800-124785400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:124781800-124785600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:124781800-124785600	Enhancers	Colon Smooth Muscle	Colon
26	chr8:124781800-124786000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:124781800-124786200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr8:124781800-124787400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:124781800-124788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:124781800-124796000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:124781800-124811200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:124782000-124783200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:124782000-124783200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:124782000-124783400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:124782000-124783400	Enhancers	Brain Substantia Nigra	brain
36	chr8:124782000-124783600	Enhancers	Ovary	ovary
37	chr8:124782000-124783600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr8:124782000-124783600	Enhancers	HSMMtube	muscle
39	chr8:124782000-124784200	Enhancers	Small Intestine	intestine
40	chr8:124782000-124784800	Enhancers	Brain Hippocampus Middle	brain
41	chr8:124782000-124785800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:124782000-124786000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr8:124782000-124786200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr8:124782000-124787000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:124782000-124787000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:124782000-124787400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:124782200-124783000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr8:124782200-124783000	Enhancers	Rectal Smooth Muscle	rectum
49	chr8:124782200-124783200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:124782200-124783200	Weak transcription	Fetal Brain Female	brain

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