Variant report

Variant	rs6802598
Chromosome Location	chr3:139272957-139272958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11921723	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11922772	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12492518	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2071386	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6786021	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6799670	0.81[AMR][1000 genomes];0.91[EUR][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	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949635	chr3:139091219-139367043	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6802598	RBP1	cis	brain	BrainEAC

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139259200-139307000	Weak transcription	Aorta	Aorta
2	chr3:139261200-139279400	Weak transcription	Brain Substantia Nigra	brain
3	chr3:139265800-139274600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:139265800-139290600	Weak transcription	Adipose Nuclei	Adipose
5	chr3:139266000-139273400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:139268400-139292200	Weak transcription	Right Atrium	heart
7	chr3:139270600-139273800	Enhancers	Ovary	ovary
8	chr3:139270800-139275000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:139271400-139274800	Enhancers	Fetal Stomach	stomach
10	chr3:139271600-139274000	Enhancers	Pancreas	Pancrea
11	chr3:139271600-139279200	Weak transcription	Left Ventricle	heart
12	chr3:139271800-139279400	Weak transcription	Fetal Intestine Large	intestine
13	chr3:139271800-139279400	Weak transcription	Fetal Intestine Small	intestine
14	chr3:139271800-139293000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:139272000-139273600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:139272000-139277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:139272000-139277600	Weak transcription	Esophagus	oesophagus
18	chr3:139272400-139273200	Enhancers	Placenta	Placenta
19	chr3:139272600-139273000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:139272600-139273200	Enhancers	Gastric	stomach
21	chr3:139272600-139279000	Weak transcription	Brain Anterior Caudate	brain
22	chr3:139272800-139273400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:139272800-139278200	Weak transcription	Fetal Kidney	kidney

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