Variant report

Variant	rs28412991
Chromosome Location	chr8:124781462-124781463
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124779119..124781941-chr8:125550806..125552574,2	MCF-7	breast:
2	chr16:27322814..27325675-chr8:124780748..124782249,2	MCF-7	breast:
3	chr8:124780302..124782573-chr8:125486403..125488504,7	MCF-7	breast:
4	chr8:124286589..124288147-chr8:124780495..124782975,2	K562	blood:
5	chr8:124427993..124430634-chr8:124780278..124783215,3	MCF-7	breast:
6	chr8:124781412..124783619-chr8:124810704..124812373,2	K562	blood:

Variant related genes	Relation type
ENSG00000170881	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000077238	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[ASN][1000 genomes]
rs10106428	1.00[ASN][1000 genomes]
rs10505442	1.00[ASN][1000 genomes]
rs10956150	0.82[ASN][1000 genomes]
rs11987328	1.00[ASN][1000 genomes]
rs11987639	0.84[AMR][1000 genomes]
rs11991217	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997795	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998231	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367826	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431667	0.82[ASN][1000 genomes]
rs1431668	0.82[ASN][1000 genomes]
rs16898889	0.96[EUR][1000 genomes];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	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589482	1.00[ASN][1000 genomes]
rs28701862	1.00[ASN][1000 genomes]
rs3889940	1.00[ASN][1000 genomes]
rs3889941	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3955482	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6470188	0.82[ASN][1000 genomes]
rs67260918	1.00[ASN][1000 genomes]
rs72713164	0.90[ASN][1000 genomes]
rs72713165	1.00[ASN][1000 genomes]
rs72715027	1.00[ASN][1000 genomes]
rs72715028	1.00[ASN][1000 genomes]
rs72715029	1.00[ASN][1000 genomes]
rs72715030	1.00[ASN][1000 genomes]
rs72715031	1.00[ASN][1000 genomes]
rs72715032	1.00[ASN][1000 genomes]
rs72715037	1.00[ASN][1000 genomes]
rs72715039	1.00[ASN][1000 genomes]
rs72715041	1.00[ASN][1000 genomes]
rs72715042	1.00[ASN][1000 genomes]
rs72715045	1.00[ASN][1000 genomes]
rs72715049	1.00[ASN][1000 genomes]
rs72715051	1.00[ASN][1000 genomes]
rs72715053	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[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	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
3	esv3411799	chr8:124779296-124782144	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124779800-124781600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:124779800-124781600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr8:124779800-124781600	Active TSS	Esophagus	oesophagus
4	chr8:124779800-124781600	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr8:124779800-124781800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:124779800-124782000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:124779800-124782200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr8:124779800-124782800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:124779800-124783200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:124780000-124781600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:124780000-124781600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:124780000-124781600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:124780000-124781600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:124780000-124781600	Active TSS	Fetal Kidney	kidney
15	chr8:124780000-124781600	Active TSS	Right Ventricle	heart
16	chr8:124780000-124781600	Active TSS	Small Intestine	intestine
17	chr8:124780000-124781800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:124780000-124781800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:124780000-124781800	Active TSS	Left Ventricle	heart
20	chr8:124780000-124781800	Active TSS	Ovary	ovary
21	chr8:124780000-124781800	Active TSS	HSMMtube	muscle
22	chr8:124780000-124782000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr8:124780000-124782000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:124780000-124782400	Active TSS	Aorta	Aorta
25	chr8:124780000-124782400	Active TSS	Colonic Mucosa	Colon
26	chr8:124780000-124782600	Active TSS	A549	lung
27	chr8:124780000-124783200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:124780200-124781600	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:124780200-124781600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:124780200-124781600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:124780200-124781600	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr8:124780200-124781600	Active TSS	Brain Hippocampus Middle	brain
33	chr8:124780200-124781600	Active TSS	Brain Substantia Nigra	brain
34	chr8:124780200-124781600	Active TSS	K562	blood
35	chr8:124780200-124781600	Active TSS	NHDF-Ad	bronchial
36	chr8:124780200-124781600	Active TSS	NHEK	skin
37	chr8:124780200-124781800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr8:124780200-124781800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr8:124780200-124781800	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr8:124780200-124781800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:124780200-124781800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:124780200-124781800	Active TSS	Gastric	stomach
43	chr8:124780200-124781800	Active TSS	Lung	lung
44	chr8:124780200-124781800	Active TSS	Pancreas	Pancrea
45	chr8:124780200-124781800	Active TSS	GM12878-XiMat	blood
46	chr8:124780200-124781800	Active TSS	HMEC	breast
47	chr8:124780200-124782000	Active TSS	Fetal Intestine Large	intestine
48	chr8:124780200-124782000	Active TSS	Fetal Intestine Small	intestine
49	chr8:124780200-124782200	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr8:124780200-124782200	Active TSS	HUES6 Cell Line	embryonic stem cell

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