Variant report

Variant	rs59134934
Chromosome Location	chr8:126095938-126095939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126094932..126099483-chr8:126100368..126105771,7	K562	blood:
2	chr8:126093925..126097720-chr8:126099052..126104024,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164961	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16900320	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28392978	1.00[EUR][1000 genomes]
rs28810782	1.00[EUR][1000 genomes]
rs56798105	1.00[EUR][1000 genomes]
rs56988673	1.00[EUR][1000 genomes]
rs57107402	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57708414	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57876250	1.00[EUR][1000 genomes]
rs58217279	1.00[EUR][1000 genomes]
rs59472229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59652837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59667546	1.00[EUR][1000 genomes]
rs60361771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60524861	1.00[EUR][1000 genomes]
rs6992378	1.00[EUR][1000 genomes]
rs6992389	1.00[EUR][1000 genomes]
rs7001448	1.00[EUR][1000 genomes]
rs73337613	1.00[EUR][1000 genomes]
rs7814242	1.00[EUR][1000 genomes]
rs7820192	1.00[EUR][1000 genomes]
rs7825375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839038	1.00[EUR][1000 genomes]
rs7839468	1.00[EUR][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	chr8:126042400-126096800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:126042600-126098600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:126042600-126098800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr8:126043000-126096000	Strong transcription	Liver	Liver
11	chr8:126043000-126098000	Strong transcription	Fetal Thymus	thymus
12	chr8:126046600-126099600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr8:126046800-126096200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr8:126052800-126103200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:126064200-126102800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:126066600-126099400	Strong transcription	Primary B cells from cord blood	blood
17	chr8:126071800-126103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:126073200-126098200	Strong transcription	Primary hematopoietic stem cells	blood
19	chr8:126073200-126098400	Strong transcription	Primary T cells from cord blood	blood
20	chr8:126073400-126096400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:126078400-126096000	Strong transcription	Dnd41	blood
22	chr8:126078600-126096200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:126078600-126096600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:126082000-126096200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:126083800-126096000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:126083800-126097800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:126083800-126098000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:126084000-126102400	Weak transcription	Fetal Heart	heart
29	chr8:126084400-126096600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:126084400-126097400	Strong transcription	Placenta	Placenta
31	chr8:126084600-126096200	Strong transcription	Fetal Intestine Large	intestine
32	chr8:126085000-126096400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:126085000-126098400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:126085400-126102400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:126085400-126102600	Weak transcription	Stomach Mucosa	stomach
36	chr8:126087600-126097000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:126088200-126098000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:126088400-126096200	Strong transcription	Fetal Muscle Leg	muscle
39	chr8:126088400-126098800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:126088600-126097200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:126090400-126096200	Strong transcription	Hela-S3	cervix
42	chr8:126090800-126098000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:126090800-126098200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:126090800-126100200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:126090800-126102800	Weak transcription	Aorta	Aorta
46	chr8:126091000-126103000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr8:126091200-126097800	Weak transcription	Spleen	Spleen
48	chr8:126091200-126102600	Weak transcription	Fetal Brain Male	brain
49	chr8:126091200-126102600	Weak transcription	NHLF	lung
50	chr8:126091200-126103000	Weak transcription	Esophagus	oesophagus

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