Variant report

Variant	rs73271376
Chromosome Location	chr8:100774364-100774365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100772618..100774951-chr8:100776961..100779017,2	K562	blood:
2	chr8:100768042..100769569-chr8:100772552..100774739,2	K562	blood:
3	chr8:100652613..100655160-chr8:100773640..100775434,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1487023	1.00[AMR][1000 genomes]
rs59713666	1.00[AMR][1000 genomes]
rs7001662	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271318	1.00[AMR][1000 genomes]
rs73271339	1.00[AMR][1000 genomes]
rs73271343	1.00[AMR][1000 genomes]
rs73271344	1.00[AMR][1000 genomes]
rs73271349	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271383	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7833906	1.00[AFR][1000 genomes];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	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1033944	chr8:100737321-100916345	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100710200-100785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:100725600-100779800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:100727000-100779000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:100734200-100779200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:100734600-100796600	Weak transcription	Pancreas	Pancrea
6	chr8:100737800-100779000	Weak transcription	Left Ventricle	heart
7	chr8:100761800-100787200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:100763600-100796600	Weak transcription	HSMMtube	muscle
9	chr8:100764200-100779200	Weak transcription	Primary B cells from cord blood	blood
10	chr8:100766000-100779800	Weak transcription	Lung	lung
11	chr8:100766200-100798000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:100766200-100815600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:100766800-100783000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:100767000-100779000	Weak transcription	Primary T cells from cord blood	blood
15	chr8:100767600-100779800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:100767600-100779800	Weak transcription	Thymus	Thymus
17	chr8:100767600-100782800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:100767600-100787200	Weak transcription	Fetal Thymus	thymus
19	chr8:100768800-100779000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:100769000-100774400	Weak transcription	Osteobl	bone
21	chr8:100769000-100798200	Weak transcription	Psoas Muscle	Psoas
22	chr8:100769400-100779000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:100769600-100779000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:100769600-100791000	Weak transcription	Fetal Kidney	kidney
25	chr8:100769800-100778800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:100769800-100779200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:100769800-100779800	Weak transcription	Aorta	Aorta
28	chr8:100770000-100777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:100770000-100779200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:100770000-100780000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:100770000-100787000	Weak transcription	Adipose Nuclei	Adipose
32	chr8:100770200-100779800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:100770600-100774400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:100770600-100779000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:100770600-100779200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:100771000-100783800	Weak transcription	HSMM	muscle
37	chr8:100771200-100779800	Weak transcription	Ovary	ovary
38	chr8:100771400-100779000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:100771400-100786400	Weak transcription	GM12878-XiMat	blood
40	chr8:100771600-100779000	Weak transcription	Fetal Lung	lung
41	chr8:100772000-100777600	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:100772000-100779000	Weak transcription	Fetal Intestine Large	intestine
43	chr8:100772000-100779800	Weak transcription	Right Ventricle	heart
44	chr8:100772000-100787400	Weak transcription	Fetal Intestine Small	intestine
45	chr8:100772000-100798000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:100772400-100824400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:100772600-100791000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:100773000-100779800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:100773000-100782200	Weak transcription	Liver	Liver
50	chr8:100773400-100779600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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