Variant report

Variant	rs2028428
Chromosome Location	chr8:95487050-95487051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95485646..95487396-chr8:95731182..95733187,2	MCF-7	breast:
2	chr8:95485981..95488677-chr8:95730553..95733529,2	K562	blood:

Variant related genes	Relation type
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10087254	0.89[EUR][1000 genomes]
rs10087503	0.89[EUR][1000 genomes]
rs10095298	0.89[EUR][1000 genomes]
rs10102233	0.83[EUR][1000 genomes]
rs10102496	0.83[EUR][1000 genomes]
rs1011249	0.90[EUR][1000 genomes]
rs10112606	0.83[EUR][1000 genomes]
rs10216902	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10504936	0.83[EUR][1000 genomes]
rs10808669	0.89[EUR][1000 genomes]
rs10956913	0.89[EUR][1000 genomes]
rs10956914	0.89[EUR][1000 genomes]
rs12545262	0.83[EUR][1000 genomes]
rs12679347	0.83[EUR][1000 genomes]
rs12680029	0.83[EUR][1000 genomes]
rs12680213	0.83[EUR][1000 genomes]
rs13248829	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13280849	0.83[EUR][1000 genomes]
rs13281619	0.83[EUR][1000 genomes]
rs1561648	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16916788	0.83[EUR][1000 genomes]
rs16916796	0.82[EUR][1000 genomes]
rs16916802	0.84[EUR][1000 genomes]
rs1872889	0.83[EUR][1000 genomes]
rs2043987	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2165405	0.84[EUR][1000 genomes]
rs2197004	0.86[EUR][1000 genomes]
rs2291439	0.85[EUR][1000 genomes]
rs2381886	0.89[EUR][1000 genomes]
rs28641679	0.84[EUR][1000 genomes]
rs2919654	0.81[EUR][1000 genomes]
rs2919656	0.85[EUR][1000 genomes]
rs2919659	0.86[EUR][1000 genomes]
rs2919660	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2919662	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2919663	0.81[EUR][1000 genomes]
rs2919664	0.86[EUR][1000 genomes]
rs2919665	0.81[EUR][1000 genomes]
rs2919666	0.81[EUR][1000 genomes]
rs2919667	0.86[EUR][1000 genomes]
rs2919670	0.86[EUR][1000 genomes]
rs2919672	0.91[EUR][1000 genomes]
rs2919673	0.91[EUR][1000 genomes]
rs2921385	0.81[EUR][1000 genomes]
rs2921387	0.81[EUR][1000 genomes]
rs2921389	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2930958	0.91[EUR][1000 genomes]
rs2930959	0.81[EUR][1000 genomes]
rs2930962	0.91[EUR][1000 genomes]
rs2930967	0.81[EUR][1000 genomes]
rs2930968	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2930969	0.81[EUR][1000 genomes]
rs2930970	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2931633	0.84[EUR][1000 genomes]
rs3019146	0.84[EUR][1000 genomes]
rs3019148	0.86[EUR][1000 genomes]
rs3019154	0.91[EUR][1000 genomes]
rs3019279	0.91[EUR][1000 genomes]
rs3019284	0.85[EUR][1000 genomes]
rs3098703	0.84[EUR][1000 genomes]
rs3099397	0.84[EUR][1000 genomes]
rs3099398	0.84[EUR][1000 genomes]
rs3099401	0.85[EUR][1000 genomes]
rs4734279	0.85[ASN][1000 genomes]
rs4735292	0.84[EUR][1000 genomes]
rs4735293	0.84[ASN][1000 genomes]
rs4735294	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56285115	0.83[EUR][1000 genomes]
rs6980687	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6991077	0.82[EUR][1000 genomes]
rs6999103	0.89[EUR][1000 genomes]
rs6999976	0.86[EUR][1000 genomes]
rs716770	0.83[EUR][1000 genomes]
rs752460	0.84[ASN][1000 genomes]
rs9297939	0.89[EUR][1000 genomes]
rs935052	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1835971	chr8:95467241-95490541	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr8:95483000-95487800	Active TSS	GM12878-XiMat	blood
2	chr8:95485200-95487800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr8:95485800-95487200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr8:95485800-95487600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:95485800-95488000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:95485800-95488000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:95486000-95487800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:95486000-95488000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:95486000-95488000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:95486000-95488000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:95486000-95488000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:95486000-95488000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr8:95486000-95488000	Active TSS	Fetal Intestine Small	intestine
14	chr8:95486000-95488000	Active TSS	HSMM	muscle
15	chr8:95486200-95487400	Active TSS	K562	blood
16	chr8:95486200-95487800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:95486200-95487800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr8:95486200-95487800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:95486200-95487800	Active TSS	Fetal Stomach	stomach
20	chr8:95486200-95487800	Active TSS	A549	lung
21	chr8:95486200-95487800	Active TSS	HepG2	liver
22	chr8:95486200-95488000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr8:95486200-95488000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:95486200-95488000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:95486200-95488000	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr8:95486200-95488000	Active TSS	Colonic Mucosa	Colon
27	chr8:95486200-95488000	Active TSS	Fetal Muscle Trunk	muscle
28	chr8:95486200-95488000	Active TSS	NHLF	lung
29	chr8:95486400-95487800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:95486400-95487800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr8:95486400-95487800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:95486400-95487800	Active TSS	Fetal Brain Female	brain
33	chr8:95486400-95487800	Active TSS	Fetal Intestine Large	intestine
34	chr8:95486400-95488000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:95486400-95488000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:95486400-95488000	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr8:95486400-95488000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:95486400-95488000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:95486400-95488000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr8:95486400-95488000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr8:95486600-95487200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr8:95486600-95487200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr8:95486600-95487200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr8:95486600-95487400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr8:95486600-95487400	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr8:95486600-95487400	Active TSS	Hela-S3	cervix
47	chr8:95486600-95487600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:95486600-95487600	Active TSS	NHEK	skin
49	chr8:95486600-95487600	Active TSS	Osteobl	bone
50	chr8:95486600-95487800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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