Variant report

Variant	rs1265147
Chromosome Location	chr8:103210971-103210972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102503403..102505904-chr8:103208888..103211363,2	MCF-7	breast:
2	chr8:103204658..103207818-chr8:103209461..103212038,3	K562	blood:
3	chr8:102619068..102621889-chr8:103209199..103211504,2	MCF-7	breast:
4	chr8:103210540..103212647-chr8:103215614..103217382,2	K562	blood:
5	chr8:103208196..103211132-chr8:103214844..103217126,2	K562	blood:

Variant related genes	Relation type
ENSG00000083307	Chromatin interaction
ENSG00000254024	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1265142	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1265145	0.89[ASN][1000 genomes]
rs1265146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1265148	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1265149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1265151	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1265152	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3931977	0.81[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs4102400	0.86[CHB][hapmap];0.80[CHD][hapmap]
rs6980902	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7388583	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv891242	chr8:103210971-103282418	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103209600-103218400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:103209600-103223000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:103209800-103211000	Enhancers	Fetal Brain Female	brain
4	chr8:103209800-103211600	Flanking Active TSS	GM12878-XiMat	blood
5	chr8:103209800-103216200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:103209800-103216400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:103209800-103216400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:103209800-103217200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr8:103209800-103217800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:103209800-103218000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:103209800-103218400	Weak transcription	HMEC	breast
12	chr8:103209800-103218600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:103209800-103218600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:103209800-103218600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:103209800-103218800	Weak transcription	Primary B cells from cord blood	blood
16	chr8:103209800-103219000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:103209800-103219000	Weak transcription	Brain Anterior Caudate	brain
18	chr8:103209800-103219200	Weak transcription	Primary T cells from cord blood	blood
19	chr8:103209800-103219200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:103209800-103219200	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:103209800-103219200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:103209800-103219200	Weak transcription	Osteobl	bone
23	chr8:103209800-103219400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:103209800-103219600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:103209800-103219600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:103209800-103221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:103209800-103221600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:103209800-103222200	Weak transcription	Left Ventricle	heart
29	chr8:103209800-103223400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:103209800-103223600	Weak transcription	NH-A	brain
31	chr8:103209800-103224400	Weak transcription	Fetal Intestine Large	intestine
32	chr8:103209800-103224800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:103209800-103225400	Weak transcription	Fetal Kidney	kidney
34	chr8:103209800-103225600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:103209800-103229600	Weak transcription	A549	lung
36	chr8:103209800-103229800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:103209800-103229800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:103209800-103230400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:103209800-103230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:103209800-103230400	Weak transcription	Aorta	Aorta
41	chr8:103209800-103230400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:103209800-103230400	Weak transcription	Thymus	Thymus
43	chr8:103209800-103230800	Weak transcription	Right Ventricle	heart
44	chr8:103209800-103233400	Weak transcription	Esophagus	oesophagus
45	chr8:103209800-103233800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:103209800-103236800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:103209800-103239200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:103209800-103244800	Weak transcription	Stomach Mucosa	stomach
49	chr8:103210000-103217200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:103210000-103218600	Weak transcription	Primary B cells from peripheral blood	blood

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