Variant report

Variant	rs13257850
Chromosome Location	chr8:126049191-126049192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126044688..126047972-chr8:126048094..126050682,3	K562	blood:
2	chr8:126048206..126049754-chr8:126052029..126053621,2	MCF-7	breast:
3	chr8:126049172..126050836-chr8:126102500..126104804,2	K562	blood:
4	chr8:125868418..125870458-chr8:126048055..126050888,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253167	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000255080	Chromatin interaction
ENSG00000164961	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10086441	0.94[ASN][1000 genomes]
rs10087191	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10087246	1.00[ASN][1000 genomes]
rs10102066	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102230	0.93[ASN][1000 genomes]
rs10103150	0.99[ASN][1000 genomes]
rs10216429	0.99[ASN][1000 genomes]
rs10216437	0.99[ASN][1000 genomes]
rs10481152	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156712	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156713	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542833	0.97[ASN][1000 genomes]
rs12543024	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12548159	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12548192	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12682006	0.89[ASN][1000 genomes]
rs1319792	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249949	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251808	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251846	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13265195	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16900177	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900238	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900316	0.96[ASN][1000 genomes]
rs2033130	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2382998	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28670937	0.89[ASN][1000 genomes]
rs28706061	0.81[ASN][1000 genomes]
rs28760092	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28873392	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36090120	0.92[ASN][1000 genomes]
rs3750234	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750235	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750236	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750237	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793402	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3793447	0.89[ASN][1000 genomes]
rs3860845	0.93[ASN][1000 genomes]
rs4007685	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4347009	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4870932	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870933	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470327	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470328	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651230	0.93[ASN][1000 genomes]
rs6989560	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001228	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7003069	1.00[ASN][1000 genomes]
rs7007960	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008915	0.89[ASN][1000 genomes]
rs7018283	0.85[ASN][1000 genomes]
rs7813917	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7825911	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832609	0.89[ASN][1000 genomes]
rs9297707	1.00[ASN][1000 genomes]
rs9297708	1.00[ASN][1000 genomes]
rs966946	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:126019600-126071800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:126028200-126072000	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:126028400-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:126028800-126072200	Strong transcription	Adipose Nuclei	Adipose
9	chr8:126029600-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:126029800-126097400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:126030600-126049800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:126031200-126058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:126031800-126049800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:126032000-126050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:126032800-126050600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:126036400-126051200	Weak transcription	Small Intestine	intestine
18	chr8:126036800-126050400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:126038800-126097200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:126039400-126064400	Strong transcription	Primary T cells from cord blood	blood
21	chr8:126039400-126072000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr8:126039400-126091400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:126039600-126052600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:126039600-126067200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:126039600-126071800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr8:126040200-126053600	Strong transcription	Spleen	Spleen
27	chr8:126040400-126064400	Strong transcription	Fetal Muscle Leg	muscle
28	chr8:126040400-126064600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:126040800-126051400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:126042200-126052400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:126042200-126053200	Strong transcription	Thymus	Thymus
32	chr8:126042200-126084000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:126042400-126052400	Strong transcription	Left Ventricle	heart
34	chr8:126042400-126096800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:126042600-126050000	Weak transcription	Psoas Muscle	Psoas
36	chr8:126042600-126052200	Weak transcription	Fetal Heart	heart
37	chr8:126042600-126064200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr8:126042600-126098600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:126042600-126098800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr8:126042800-126071800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:126042800-126072600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr8:126042800-126084200	Strong transcription	Fetal Intestine Large	intestine
43	chr8:126043000-126075800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:126043000-126084000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:126043000-126096000	Strong transcription	Liver	Liver
46	chr8:126043000-126098000	Strong transcription	Fetal Thymus	thymus
47	chr8:126043200-126051600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:126043200-126051800	Strong transcription	NHDF-Ad	bronchial
49	chr8:126043800-126075800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:126043800-126076400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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