Variant report

Variant	rs10096452
Chromosome Location	chr8:121081774-121081775
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	chr8:121075759..121078514-chr8:121080982..121082619,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10086552	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10089237	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090616	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10091751	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10093122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095381	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10098186	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10098553	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101991	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106260	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106486	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10109114	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109428	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12335287	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13438953	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439799	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16893490	1.00[EUR][1000 genomes]
rs28417489	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28419782	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28436864	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28540842	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564314	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28584717	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609809	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661308	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666600	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28707485	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55926918	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58796098	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59336641	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60228176	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7016873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704210	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704215	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704219	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704221	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9987262	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9987405	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121060600-121085000	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:121070800-121082200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:121073400-121081800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:121074200-121081800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:121075600-121083000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:121075600-121083000	Enhancers	Stomach Mucosa	stomach
7	chr8:121075600-121095800	Weak transcription	Gastric	stomach
8	chr8:121076000-121085400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:121076600-121083200	Enhancers	Fetal Intestine Large	intestine
10	chr8:121077200-121081800	Enhancers	Duodenum Mucosa	Duodenum
11	chr8:121077200-121083200	Enhancers	Fetal Intestine Small	intestine
12	chr8:121078200-121082600	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:121078400-121082000	Weak transcription	Fetal Lung	lung
14	chr8:121078600-121082400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:121078800-121082600	Enhancers	Pancreas	Pancrea
16	chr8:121078800-121083400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:121079000-121083400	Enhancers	Fetal Kidney	kidney
18	chr8:121079200-121081800	Weak transcription	Placenta	Placenta
19	chr8:121079200-121082000	Weak transcription	Adipose Nuclei	Adipose
20	chr8:121079200-121083000	Enhancers	NHEK	skin
21	chr8:121079400-121082200	Weak transcription	Ovary	ovary
22	chr8:121079600-121082000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:121079800-121082600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:121080000-121082600	Enhancers	HMEC	breast
25	chr8:121080200-121082800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:121080200-121083200	Enhancers	Colon Smooth Muscle	Colon
27	chr8:121080400-121082000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:121080400-121082600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr8:121080600-121082000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:121080600-121083200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:121080800-121082000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:121080800-121082800	Enhancers	Liver	Liver
33	chr8:121081000-121082000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:121081000-121082200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:121081000-121084400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:121081200-121081800	Enhancers	Small Intestine	intestine
37	chr8:121081200-121082200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:121081200-121085400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:121081400-121082400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:121081400-121082400	Weak transcription	HepG2	liver
41	chr8:121081400-121083400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:121081400-121083400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr8:121081400-121083600	Enhancers	Psoas Muscle	Psoas
44	chr8:121081400-121085400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:121081400-121085600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:121081600-121083200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr8:121081600-121083400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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