Variant report

Variant	rs6848217
Chromosome Location	chr4:160204277-160204278
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	chr4:160203793..160205829-chr4:160213444..160214997,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10017696	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11100215	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12499444	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12507095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103075	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13145422	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13150322	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28562885	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295222	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6811571	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6816396	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6824247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6824488	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6834008	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6835746	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847780	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6848706	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7349689	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990664	0.96[AMR][1000 genomes];0.96[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	nsv830129	chr4:160061694-160270760	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1022771	chr4:160188801-160324683	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6848217	RAPGEF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160149400-160216800	Weak transcription	Small Intestine	intestine
2	chr4:160173200-160217400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:160186800-160225400	Weak transcription	Primary B cells from cord blood	blood
4	chr4:160188800-160205200	Weak transcription	Ovary	ovary
5	chr4:160189400-160235200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:160190200-160205000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:160190600-160205000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:160193400-160205600	Weak transcription	Right Ventricle	heart
9	chr4:160193400-160240200	Weak transcription	Gastric	stomach
10	chr4:160194200-160210000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:160194400-160209600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:160194400-160235600	Weak transcription	Fetal Stomach	stomach
13	chr4:160194400-160236600	Weak transcription	Primary T cells from cord blood	blood
14	chr4:160194600-160205000	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:160194600-160209400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:160195200-160209800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:160195200-160225600	Weak transcription	Placenta	Placenta
18	chr4:160195400-160205200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:160196200-160205000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:160199800-160205000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:160200600-160204600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:160200600-160205000	Weak transcription	Adipose Nuclei	Adipose
23	chr4:160200600-160235600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:160201000-160205200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr4:160201000-160205800	Enhancers	Liver	Liver
26	chr4:160201200-160205400	Enhancers	Fetal Intestine Small	intestine
27	chr4:160201200-160205600	Weak transcription	Left Ventricle	heart
28	chr4:160201800-160217200	Weak transcription	GM12878-XiMat	blood
29	chr4:160202200-160205600	Enhancers	HepG2	liver
30	chr4:160202400-160205000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:160202400-160205800	Enhancers	Fetal Intestine Large	intestine
32	chr4:160202800-160204600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:160202800-160204800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:160202800-160205000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:160202800-160205000	Enhancers	NHEK	skin
36	chr4:160202800-160206400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:160202800-160206400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:160203000-160204400	Enhancers	Brain Hippocampus Middle	brain
39	chr4:160203000-160204600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:160203000-160204800	Enhancers	HSMMtube	muscle
41	chr4:160203000-160205000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:160203000-160205000	Enhancers	NH-A	brain
43	chr4:160203000-160205200	Enhancers	NHLF	lung
44	chr4:160203000-160205400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:160203000-160205600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:160203000-160205600	Enhancers	Fetal Heart	heart
47	chr4:160203000-160205600	Enhancers	Osteobl	bone
48	chr4:160203000-160205800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr4:160203000-160206200	Enhancers	HSMM	muscle
50	chr4:160203200-160205000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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