Variant report

Variant	rs73710006
Chromosome Location	chr8:121744187-121744188
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57322022	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58113621	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58458628	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59586775	0.88[AFR][1000 genomes]
rs61396577	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706732	1.00[AMR][1000 genomes]
rs73706738	1.00[AMR][1000 genomes]
rs73706743	1.00[AMR][1000 genomes]
rs73707103	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710003	1.00[AMR][1000 genomes]
rs73710014	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710059	0.90[AFR][1000 genomes];1.00[AMR][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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121730000-121747400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:121730400-121746600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:121730400-121747400	Weak transcription	Colonic Mucosa	Colon
4	chr8:121730600-121745400	Weak transcription	Pancreas	Pancrea
5	chr8:121730600-121747000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:121731000-121757400	Weak transcription	Lung	lung
7	chr8:121737200-121746800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:121737400-121747800	Weak transcription	Gastric	stomach
9	chr8:121737600-121747600	Weak transcription	Small Intestine	intestine
10	chr8:121739200-121744400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:121739600-121744800	Weak transcription	Fetal Stomach	stomach
12	chr8:121739600-121746800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:121739600-121750200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:121739600-121758000	Weak transcription	NHLF	lung
15	chr8:121741400-121746600	Weak transcription	Liver	Liver
16	chr8:121742200-121744800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:121742200-121753200	Weak transcription	Fetal Kidney	kidney
18	chr8:121742200-121754600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:121742200-121757200	Weak transcription	HSMM	muscle
20	chr8:121742400-121749800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:121742600-121748800	Weak transcription	Psoas Muscle	Psoas
22	chr8:121742800-121745800	Enhancers	Dnd41	blood
23	chr8:121742800-121748600	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:121742800-121750600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:121743000-121745200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr8:121743000-121745600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:121743200-121745400	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:121743200-121745600	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:121743200-121745800	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr8:121743400-121744400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr8:121743400-121745200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:121743400-121745200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr8:121743400-121745200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:121743600-121744200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:121743600-121744400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr8:121743600-121744400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr8:121743600-121744400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:121743600-121744400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:121743600-121744400	Flanking Active TSS	GM12878-XiMat	blood
40	chr8:121743600-121744600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:121743600-121744600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:121743600-121744600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr8:121743600-121744600	Flanking Active TSS	Fetal Thymus	thymus
44	chr8:121743600-121744600	Flanking Active TSS	Thymus	Thymus
45	chr8:121743600-121744600	Genic enhancers	HSMMtube	muscle
46	chr8:121743600-121745200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr8:121743600-121745400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr8:121743800-121744200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr8:121743800-121744400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr8:121743800-121744600	Flanking Active TSS	Primary B cells from cord blood	blood

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