Variant report

Variant	rs12545570
Chromosome Location	chr8:121750552-121750553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10283394	1.00[CEU][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs12547868	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12679633	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4478618	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57592694	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58358774	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58755659	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73323165	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73706703	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73706728	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73706735	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73706739	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73710008	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297626	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121731000-121757400	Weak transcription	Lung	lung
2	chr8:121739600-121758000	Weak transcription	NHLF	lung
3	chr8:121742200-121753200	Weak transcription	Fetal Kidney	kidney
4	chr8:121742200-121754600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:121742200-121757200	Weak transcription	HSMM	muscle
6	chr8:121742800-121750600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:121743800-121750600	Weak transcription	Fetal Intestine Large	intestine
8	chr8:121745200-121761200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:121745400-121761400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr8:121745400-121761600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr8:121745600-121761400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:121745800-121751600	Weak transcription	HSMMtube	muscle
13	chr8:121745800-121761400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:121745800-121774200	Weak transcription	Fetal Stomach	stomach
15	chr8:121747600-121755800	Weak transcription	Aorta	Aorta
16	chr8:121747800-121757400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:121747800-121759600	Weak transcription	Fetal Thymus	thymus
18	chr8:121748000-121752800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:121748000-121756200	Weak transcription	Pancreas	Pancrea
20	chr8:121748000-121757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:121748200-121750600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:121748200-121751200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr8:121748200-121751600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:121748400-121751400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:121748400-121755000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr8:121748800-121753200	Weak transcription	Thymus	Thymus
27	chr8:121749000-121752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:121749000-121757200	Weak transcription	Gastric	stomach
29	chr8:121749000-121757400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:121749200-121751400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:121749200-121751400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:121749200-121751400	Weak transcription	Liver	Liver
33	chr8:121749200-121752000	Strong transcription	HepG2	liver
34	chr8:121749200-121753200	Weak transcription	Psoas Muscle	Psoas
35	chr8:121749200-121755000	Weak transcription	Small Intestine	intestine
36	chr8:121749400-121754600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:121749600-121761400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:121749800-121751000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr8:121749800-121751200	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr8:121749800-121751600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:121750000-121751000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
42	chr8:121750200-121751000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
43	chr8:121750200-121751000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr8:121750200-121751200	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr8:121750200-121751200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr8:121750200-121751400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:121750400-121750800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:121750400-121757400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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