Variant report

Variant	rs2033133
Chromosome Location	chr8:126087966-126087967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126086928..126089075-chr8:126093067..126094956,2	MCF-7	breast:
2	chr8:126081874..126084254-chr8:126086357..126088747,2	MCF-7	breast:
3	chr8:125590158..125592640-chr8:126086582..126088559,2	K562	blood:
4	chr8:126080766..126090501-chr8:126099504..126106488,12	MCF-7	breast:
5	chr8:126086426..126089939-chr8:126095460..126099490,6	MCF-7	breast:
6	chr8:126080675..126083902-chr8:126087679..126091293,3	MCF-7	breast:
7	chr8:126084798..126089198-chr8:126089472..126091426,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156831	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000272486	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10089670	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10098756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10105404	1.00[AMR][1000 genomes]
rs10110582	1.00[AMR][1000 genomes]
rs10112396	1.00[AMR][1000 genomes]
rs10956228	1.00[AMR][1000 genomes]
rs11998170	1.00[AMR][1000 genomes]
rs12334394	1.00[AMR][1000 genomes]
rs16900255	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16900296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2384877	1.00[AMR][1000 genomes]
rs28431278	1.00[AMR][1000 genomes]
rs28489728	1.00[AMR][1000 genomes]
rs28507055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28513909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3849808	0.90[AFR][1000 genomes]
rs4305918	1.00[AMR][1000 genomes]
rs73348129	1.00[AMR][1000 genomes]
rs73348132	1.00[AMR][1000 genomes]
rs73348190	1.00[AMR][1000 genomes]
rs7814490	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:126029800-126097400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:126038800-126097200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:126039400-126091400	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:126042400-126096800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:126042600-126098600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:126042600-126098800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr8:126043000-126096000	Strong transcription	Liver	Liver
12	chr8:126043000-126098000	Strong transcription	Fetal Thymus	thymus
13	chr8:126045600-126095000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:126046600-126099600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr8:126046800-126096200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:126050200-126089000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:126052800-126103200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:126055800-126088600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:126064200-126102800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:126066600-126099400	Strong transcription	Primary B cells from cord blood	blood
21	chr8:126071800-126103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:126072800-126095600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr8:126073000-126095200	Strong transcription	Adipose Nuclei	Adipose
24	chr8:126073000-126095800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:126073200-126095000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr8:126073200-126095600	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:126073200-126098200	Strong transcription	Primary hematopoietic stem cells	blood
28	chr8:126073200-126098400	Strong transcription	Primary T cells from cord blood	blood
29	chr8:126073400-126095600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:126073400-126096400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:126073600-126095600	Strong transcription	Fetal Lung	lung
32	chr8:126076800-126095800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr8:126077200-126095600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:126078000-126088400	Strong transcription	Brain Hippocampus Middle	brain
35	chr8:126078400-126096000	Strong transcription	Dnd41	blood
36	chr8:126078600-126096200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:126078600-126096600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:126078800-126095800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:126079000-126089400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:126079000-126091400	Strong transcription	A549	lung
41	chr8:126079200-126095400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:126079600-126095800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:126080200-126091400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:126080600-126095400	Strong transcription	HSMM	muscle
45	chr8:126081400-126095600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:126082000-126096200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:126082200-126090800	Strong transcription	Colonic Mucosa	Colon
48	chr8:126082400-126094600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr8:126083200-126091200	Strong transcription	Fetal Kidney	kidney
50	chr8:126083200-126091400	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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