Variant report

Variant	rs28867439
Chromosome Location	chr8:126116785-126116786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126116223..126117724-chr8:126119342..126121125,2	K562	blood:
2	chr8:126116434..126120549-chr8:126124395..126129620,4	K562	blood:
3	chr8:126107482..126112486-chr8:126114879..126119066,5	MCF-7	breast:
4	chr8:126102591..126105691-chr8:126115903..126118524,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156831	Chromatin interaction
ENSG00000164961	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10089963	0.95[ASN][1000 genomes]
rs10093813	0.95[ASN][1000 genomes]
rs10093819	0.95[ASN][1000 genomes]
rs10095101	0.95[ASN][1000 genomes]
rs10096522	0.95[ASN][1000 genomes]
rs10097568	0.95[ASN][1000 genomes]
rs10098862	0.95[ASN][1000 genomes]
rs10099802	0.82[ASN][1000 genomes]
rs10102769	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10106909	0.95[ASN][1000 genomes]
rs10109490	0.95[ASN][1000 genomes]
rs10109574	0.95[ASN][1000 genomes]
rs10110958	0.95[ASN][1000 genomes]
rs10112171	0.98[ASN][1000 genomes]
rs10112583	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216523	0.95[ASN][1000 genomes]
rs10283187	0.82[ASN][1000 genomes]
rs2303523	0.82[ASN][1000 genomes]
rs28469260	0.95[ASN][1000 genomes]
rs28597078	0.95[ASN][1000 genomes]
rs28700192	0.95[ASN][1000 genomes]
rs3763593	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981647	0.91[ASN][1000 genomes]
rs7010385	0.95[ASN][1000 genomes]
rs7016677	0.95[ASN][1000 genomes]
rs73348181	0.95[ASN][1000 genomes]
rs7357374	1.00[ASN][1000 genomes]
rs954889	1.00[ASN][1000 genomes]
rs9987342	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126104600-126120200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:126105000-126116800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:126105000-126123200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:126105000-126123200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:126105000-126131400	Weak transcription	Fetal Kidney	kidney
6	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
7	chr8:126105400-126116800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:126105400-126122200	Weak transcription	NHDF-Ad	bronchial
9	chr8:126105400-126123200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:126105400-126131200	Weak transcription	Fetal Heart	heart
11	chr8:126105600-126116800	Weak transcription	Small Intestine	intestine
12	chr8:126105600-126122600	Weak transcription	Stomach Mucosa	stomach
13	chr8:126106600-126118000	Strong transcription	Primary T cells from cord blood	blood
14	chr8:126108600-126122200	Weak transcription	NHEK	skin
15	chr8:126113200-126118800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:126113400-126118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:126113400-126118600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:126113400-126121600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:126113600-126123600	Strong transcription	Fetal Thymus	thymus
20	chr8:126113800-126117200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr8:126113800-126117600	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:126113800-126118400	Strong transcription	Brain Anterior Caudate	brain
23	chr8:126113800-126118800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr8:126114000-126118600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr8:126114200-126117400	Strong transcription	Fetal Stomach	stomach
26	chr8:126114200-126117600	Strong transcription	K562	blood
27	chr8:126114200-126117800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:126114200-126118000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:126114200-126118000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:126114200-126118200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr8:126114200-126118200	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:126114200-126118400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:126114200-126118400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:126114200-126118400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:126114200-126118400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:126114200-126118400	Strong transcription	Adipose Nuclei	Adipose
37	chr8:126114200-126118600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:126114200-126123000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:126114200-126123600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:126114400-126117600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:126114400-126117600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:126114400-126117800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:126114400-126118200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:126114400-126118400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:126114400-126118400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr8:126114400-126118400	Strong transcription	Hela-S3	cervix
47	chr8:126114400-126118600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:126114400-126118600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:126114400-126118600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:126114400-126118600	Strong transcription	Primary B cells from cord blood	blood

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