Variant report

Variant	rs29000284
Chromosome Location	chr8:103221238-103221239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103219926..103221656-chr8:103228398..103231373,2	MCF-7	breast:
2	chr8:103219476..103221329-chr8:103222779..103224814,2	MCF-7	breast:
3	chr8:103221129..103222675-chr8:103250621..103252724,2	MCF-7	breast:
4	chr8:103136771..103139139-chr8:103221026..103222995,2	MCF-7	breast:
5	chr8:103220208..103223175-chr8:103225327..103227781,2	K562	blood:
6	chr8:103217188..103218779-chr8:103219961..103222188,2	K562	blood:

Variant related genes	Relation type
ENSG00000246263	Chromatin interaction
ENSG00000104490	Chromatin interaction
ENSG00000266756	Chromatin interaction
ENSG00000048392	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1037698	1.00[ASN][1000 genomes]
rs10505023	1.00[ASN][1000 genomes]
rs10505026	1.00[ASN][1000 genomes]
rs11575866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783533	1.00[ASN][1000 genomes]
rs16869246	1.00[ASN][1000 genomes]
rs17185155	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17185245	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17432015	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17433890	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17509673	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512347	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17512821	1.00[ASN][1000 genomes]
rs1824194	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28927372	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928568	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928570	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928575	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928577	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928583	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928584	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928588	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928589	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928594	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928595	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928599	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928601	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928602	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28928606	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28999688	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28999709	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs29000269	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs29000275	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs29000279	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs29000280	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs29000281	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3204695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34739767	1.00[ASN][1000 genomes]
rs35066978	1.00[ASN][1000 genomes]
rs4102401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56273032	1.00[ASN][1000 genomes]
rs58160045	1.00[ASN][1000 genomes]
rs73285249	1.00[ASN][1000 genomes]
rs73285260	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv891243	chr8:103219629-103292724	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' 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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103209600-103223000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:103209800-103221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:103209800-103221600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:103209800-103222200	Weak transcription	Left Ventricle	heart
5	chr8:103209800-103223400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:103209800-103223600	Weak transcription	NH-A	brain
7	chr8:103209800-103224400	Weak transcription	Fetal Intestine Large	intestine
8	chr8:103209800-103224800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:103209800-103225400	Weak transcription	Fetal Kidney	kidney
10	chr8:103209800-103225600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:103209800-103229600	Weak transcription	A549	lung
12	chr8:103209800-103229800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:103209800-103229800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:103209800-103230400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:103209800-103230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:103209800-103230400	Weak transcription	Aorta	Aorta
17	chr8:103209800-103230400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:103209800-103230400	Weak transcription	Thymus	Thymus
19	chr8:103209800-103230800	Weak transcription	Right Ventricle	heart
20	chr8:103209800-103233400	Weak transcription	Esophagus	oesophagus
21	chr8:103209800-103233800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:103209800-103236800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:103209800-103239200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:103209800-103244800	Weak transcription	Stomach Mucosa	stomach
25	chr8:103210000-103223000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:103210000-103223000	Weak transcription	Placenta	Placenta
27	chr8:103210000-103223200	Weak transcription	Fetal Thymus	thymus
28	chr8:103210000-103229800	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:103210000-103230200	Weak transcription	Brain Angular Gyrus	brain
30	chr8:103210200-103224400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:103210600-103222400	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:103210600-103222800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:103210600-103223000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:103210600-103225000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:103210600-103239600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:103210800-103232000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:103211000-103230400	Weak transcription	Fetal Brain Female	brain
38	chr8:103213600-103223000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:103214600-103222800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:103215000-103229600	Weak transcription	HUVEC	blood vessel
41	chr8:103215600-103248400	Weak transcription	Psoas Muscle	Psoas
42	chr8:103216000-103227400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:103216200-103227400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:103216200-103229800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:103216200-103230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:103216200-103247400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:103216400-103245200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:103216400-103246600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:103216600-103230400	Weak transcription	Gastric	stomach
50	chr8:103216600-103231000	Weak transcription	Placenta Amnion	Placenta Amnion

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