Variant report

Variant	rs73271381
Chromosome Location	chr8:100779445-100779446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100774459..100776244-chr8:100778816..100780858,2	MCF-7	breast:
2	chr8:100778248..100780780-chr8:100781018..100783081,2	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]
rs73271376	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]
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:78 , 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	chr8:100734600-100796600	Weak transcription	Pancreas	Pancrea
4	chr8:100761800-100787200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:100763600-100796600	Weak transcription	HSMMtube	muscle
6	chr8:100766000-100779800	Weak transcription	Lung	lung
7	chr8:100766200-100798000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:100766200-100815600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:100766800-100783000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:100767600-100779800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:100767600-100779800	Weak transcription	Thymus	Thymus
12	chr8:100767600-100782800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:100767600-100787200	Weak transcription	Fetal Thymus	thymus
14	chr8:100769000-100798200	Weak transcription	Psoas Muscle	Psoas
15	chr8:100769600-100791000	Weak transcription	Fetal Kidney	kidney
16	chr8:100769800-100779800	Weak transcription	Aorta	Aorta
17	chr8:100770000-100780000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:100770000-100787000	Weak transcription	Adipose Nuclei	Adipose
19	chr8:100770200-100779800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:100771000-100783800	Weak transcription	HSMM	muscle
21	chr8:100771200-100779800	Weak transcription	Ovary	ovary
22	chr8:100771400-100786400	Weak transcription	GM12878-XiMat	blood
23	chr8:100772000-100779800	Weak transcription	Right Ventricle	heart
24	chr8:100772000-100787400	Weak transcription	Fetal Intestine Small	intestine
25	chr8:100772000-100798000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:100772400-100824400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:100772600-100791000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:100773000-100779800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:100773000-100782200	Weak transcription	Liver	Liver
30	chr8:100773400-100779600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:100773800-100782400	Weak transcription	Fetal Stomach	stomach
32	chr8:100773800-100782600	Weak transcription	Gastric	stomach
33	chr8:100774800-100779800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:100774800-100782600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:100775000-100822400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:100776400-100790600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:100776600-100805800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:100777600-100779800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:100777600-100807800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:100777600-100809600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:100777800-100779600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:100777800-100787000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:100777800-100791000	Weak transcription	Brain Substantia Nigra	brain
44	chr8:100777800-100807200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:100778000-100779800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:100778000-100785800	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:100778000-100806400	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:100778200-100782000	Weak transcription	HepG2	liver
49	chr8:100778400-100780000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr8:100778400-100787600	Weak transcription	Esophagus	oesophagus

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