Variant report

Variant	rs72675732
Chromosome Location	chr8:121076802-121076803
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:121075869..121078557-chr8:121082699..121085072,2	K562	blood:
2	chr8:121075759..121078514-chr8:121080982..121082619,2	K562	blood:
3	chr8:121075599..121077369-chr8:121083572..121085450,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10087490	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10095170	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102329	0.83[AMR][1000 genomes]
rs10107163	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109973	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10113201	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893482	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893505	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893525	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28390204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871034	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871035	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992102	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6996253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998748	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7011381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015419	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015521	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017084	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675721	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675736	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675738	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675740	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675747	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7819380	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7841443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121059400-121077800	Weak transcription	Fetal Stomach	stomach
2	chr8:121060600-121085000	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:121064400-121077200	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:121064400-121077600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:121064600-121077200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:121069600-121077400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:121070800-121082200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:121072600-121077200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:121072800-121078000	Enhancers	Liver	Liver
10	chr8:121073200-121077200	Weak transcription	Fetal Lung	lung
11	chr8:121073200-121077400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:121073200-121077400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:121073200-121080400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:121073200-121080800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:121073200-121081400	Weak transcription	Psoas Muscle	Psoas
16	chr8:121073400-121077200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:121073400-121077200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:121073400-121081800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:121073600-121077400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:121073600-121077400	Weak transcription	Brain Substantia Nigra	brain
21	chr8:121073600-121077400	Weak transcription	Osteobl	bone
22	chr8:121073600-121079200	Weak transcription	NHEK	skin
23	chr8:121073600-121080000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:121073600-121080200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:121073600-121080200	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:121074000-121077200	Weak transcription	Brain Angular Gyrus	brain
27	chr8:121074200-121077200	Weak transcription	Fetal Intestine Small	intestine
28	chr8:121074200-121077200	Weak transcription	Fetal Kidney	kidney
29	chr8:121074200-121081800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:121074400-121077200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:121074800-121077600	Enhancers	Primary hematopoietic stem cells	blood
32	chr8:121075000-121077200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:121075600-121077000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr8:121075600-121083000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:121075600-121083000	Enhancers	Stomach Mucosa	stomach
36	chr8:121075600-121095800	Weak transcription	Gastric	stomach
37	chr8:121076000-121077400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:121076000-121085400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr8:121076600-121078600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:121076600-121083200	Enhancers	Fetal Intestine Large	intestine

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