Variant report

Variant	rs28403513
Chromosome Location	chr8:95996250-95996251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95988681..95991310-chr8:95995260..95997354,3	MCF-7	breast:
2	chr8:95964646..95966480-chr8:95995323..95997678,2	MCF-7	breast:
3	chr8:95959479..95962196-chr8:95995084..95997742,2	MCF-7	breast:
4	chr8:95960130..95961971-chr8:95993822..95996555,2	MCF-7	breast:
5	chr8:95995314..95997527-chr8:96035921..96038139,2	MCF-7	breast:
6	chr8:95995743..95997682-chr8:96034922..96037255,3	MCF-7	breast:
7	chr8:95993613..95996524-chr8:95999863..96001470,2	K562	blood:

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10087047	0.83[AFR][1000 genomes]
rs10089832	1.00[AFR][1000 genomes]
rs10090286	0.83[AFR][1000 genomes]
rs10090874	0.83[AFR][1000 genomes]
rs10095946	0.83[AFR][1000 genomes]
rs10216558	1.00[AFR][1000 genomes]
rs10216590	1.00[AFR][1000 genomes]
rs13439012	0.83[AFR][1000 genomes]
rs28394682	0.83[AFR][1000 genomes]
rs28431001	1.00[AFR][1000 genomes]
rs28455960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28521724	1.00[AFR][1000 genomes]
rs28569283	1.00[AFR][1000 genomes]
rs28581770	0.83[AFR][1000 genomes]
rs28689859	0.83[AFR][1000 genomes]
rs28713284	1.00[AFR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95964400-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:95964800-95999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:95964800-95999600	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:95964800-95999600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:95965000-95999600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:95970600-96000800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:95971600-96000400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:95974400-96002000	Weak transcription	Esophagus	oesophagus
9	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
10	chr8:95977600-96008800	Weak transcription	Brain Germinal Matrix	brain
11	chr8:95980800-95999400	Weak transcription	Brain Substantia Nigra	brain
12	chr8:95980800-95999600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:95980800-96000200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:95980800-96000200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:95981000-95999000	Weak transcription	Adipose Nuclei	Adipose
16	chr8:95981000-95999400	Weak transcription	Left Ventricle	heart
17	chr8:95981000-95999400	Weak transcription	Right Ventricle	heart
18	chr8:95981000-96000200	Weak transcription	NHLF	lung
19	chr8:95981000-96003000	Weak transcription	Fetal Lung	lung
20	chr8:95981800-95999600	Weak transcription	Spleen	Spleen
21	chr8:95983800-96003600	Weak transcription	Pancreas	Pancrea
22	chr8:95984600-96000200	Weak transcription	HepG2	liver
23	chr8:95986400-95999400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:95987000-96019600	Weak transcription	Lung	lung
25	chr8:95987200-96003000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:95987200-96018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:95987400-95999000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:95987800-95998400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:95988000-95999000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:95988000-95999600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:95988000-95999600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:95988000-96002400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:95988000-96004800	Weak transcription	HMEC	breast
34	chr8:95990000-95999600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:95990200-95997200	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:95990200-96002200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:95990600-95996600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:95992800-95997200	Strong transcription	Dnd41	blood
39	chr8:95992800-96002400	Weak transcription	Psoas Muscle	Psoas
40	chr8:95992800-96002800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:95992800-96003000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:95993000-95998600	Weak transcription	Primary B cells from cord blood	blood
43	chr8:95993200-95997000	Weak transcription	Fetal Intestine Small	intestine
44	chr8:95993200-95999400	Weak transcription	Fetal Stomach	stomach
45	chr8:95993400-95998800	Weak transcription	K562	blood
46	chr8:95993600-95996800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:95993600-95997000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:95993600-95999600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:95993600-95999800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:95993600-96000200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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