Variant report

Variant	rs62575849
Chromosome Location	chr9:104341152-104341153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10512282	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11788114	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11789610	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11790230	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11790317	0.84[EUR][1000 genomes]
rs11790832	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11791337	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11793752	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1323432	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16920443	0.85[EUR][1000 genomes]
rs16920462	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17188758	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57596144	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59782949	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61051202	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61396182	0.85[EUR][1000 genomes]
rs61685305	0.85[EUR][1000 genomes]
rs62575815	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62575839	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62575842	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62575844	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62575845	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62575846	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62575847	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62575848	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62575850	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62575851	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62575852	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62577397	0.91[EUR][1000 genomes]
rs66786600	0.84[EUR][1000 genomes]
rs67248872	0.94[AMR][1000 genomes];0.86[EUR][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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1052492	chr9:104263419-104387782	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv831672	chr9:104300755-104480849	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104325200-104344400	Weak transcription	NHLF	lung
2	chr9:104325200-104350000	Weak transcription	HSMMtube	muscle
3	chr9:104327000-104344600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:104327400-104348400	Weak transcription	Aorta	Aorta
5	chr9:104327600-104344400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:104327800-104344400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:104328000-104342200	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:104331800-104344600	Weak transcription	HSMM	muscle
9	chr9:104332400-104344600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:104333000-104342200	Weak transcription	Spleen	Spleen
11	chr9:104333000-104342400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:104333000-104344400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:104333000-104344400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:104333000-104344800	Weak transcription	A549	lung
15	chr9:104333400-104342400	Weak transcription	Fetal Stomach	stomach
16	chr9:104335200-104344600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:104335400-104344600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:104335400-104344800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr9:104335600-104344400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr9:104335600-104344600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:104335600-104346000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:104338200-104344400	Weak transcription	Fetal Brain Female	brain
23	chr9:104340000-104341600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr9:104340400-104342600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:104340600-104341200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr9:104340600-104341200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:104340600-104341200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:104340600-104341200	Enhancers	Fetal Brain Male	brain
29	chr9:104340600-104341200	Enhancers	GM12878-XiMat	blood
30	chr9:104340600-104341400	Enhancers	Primary B cells from peripheral blood	blood
31	chr9:104340600-104342400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr9:104340600-104344000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr9:104340800-104341200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr9:104340800-104341200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:104340800-104341200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr9:104341000-104343600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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