Variant report

Variant	rs4888370
Chromosome Location	chr16:75308230-75308231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1017239	0.82[ASN][1000 genomes]
rs1074961	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10781977	0.83[ASN][1000 genomes]
rs10871307	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10871308	0.86[ASN][1000 genomes]
rs11149812	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11149813	0.87[ASN][1000 genomes]
rs11149814	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11149816	0.81[ASN][1000 genomes]
rs11646418	0.81[ASN][1000 genomes]
rs12445188	0.84[ASN][1000 genomes]
rs12445211	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12445813	0.84[ASN][1000 genomes]
rs12449177	0.87[ASN][1000 genomes]
rs12932952	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12935329	0.84[ASN][1000 genomes]
rs1862705	0.85[ASN][1000 genomes]
rs1895489	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2032926	0.82[ASN][1000 genomes]
rs2059257	0.80[EUR][1000 genomes]
rs2865532	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3743606	0.83[ASN][1000 genomes]
rs3784936	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3784937	0.86[ASN][1000 genomes]
rs3844219	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3851735	0.82[ASN][1000 genomes]
rs3851736	0.80[EUR][1000 genomes]
rs4536500	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4887811	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4887812	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4887813	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4887814	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888369	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888371	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4888374	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888375	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888381	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6564245	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6564249	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6564256	0.80[EUR][1000 genomes]
rs7187263	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7202284	0.81[EUR][1000 genomes]
rs8050662	0.83[ASN][1000 genomes]
rs8051611	0.80[EUR][1000 genomes]
rs8051785	0.80[ASN][1000 genomes]
rs8053632	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs889446	0.86[ASN][1000 genomes]
rs9933956	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9934007	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
11	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4888370	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75301000-75325000	Weak transcription	Liver	Liver
2	chr16:75301800-75321800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:75302000-75315800	Weak transcription	Fetal Brain Female	brain
4	chr16:75302000-75324000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:75302400-75313400	Weak transcription	HSMM	muscle
6	chr16:75302400-75314600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:75302600-75313400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr16:75305400-75309000	Enhancers	GM12878-XiMat	blood
9	chr16:75306000-75313200	Weak transcription	Left Ventricle	heart
10	chr16:75306000-75313400	Weak transcription	Pancreas	Pancrea
11	chr16:75306200-75325000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:75306200-75325200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr16:75306400-75314200	Weak transcription	Fetal Lung	lung
14	chr16:75306400-75321600	Weak transcription	Right Atrium	heart
15	chr16:75306800-75308400	Enhancers	HMEC	breast
16	chr16:75306800-75309200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:75307000-75309000	Enhancers	NHEK	skin
18	chr16:75307200-75308400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:75307400-75308400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:75307600-75311400	Weak transcription	Spleen	Spleen
21	chr16:75307600-75316400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:75307600-75316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:75307600-75321600	Weak transcription	Lung	lung
24	chr16:75307800-75308800	Weak transcription	HepG2	liver
25	chr16:75307800-75312800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:75307800-75312800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:75307800-75313400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:75307800-75318600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:75307800-75320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:75307800-75323000	Weak transcription	NHLF	lung
31	chr16:75307800-75325400	Weak transcription	Osteobl	bone
32	chr16:75308000-75308400	Weak transcription	HUVEC	blood vessel

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