Variant report

Variant	rs4888369
Chromosome Location	chr16:75307277-75307278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75305715..75307833-chr16:75412001..75414049,2	MCF-7	breast:
2	chr16:75305411..75308006-chr16:75310161..75314701,4	MCF-7	breast:
3	chr14:32394037..32396201-chr16:75304956..75307730,2	MCF-7	breast:
4	chr16:75306196..75308145-chr16:75363526..75365550,2	MCF-7	breast:
5	chr16:75299873..75302816-chr16:75305752..75307580,2	K562	blood:
6	chr16:75284875..75286553-chr16:75305358..75307613,2	K562	blood:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1074961	0.80[EUR][1000 genomes]
rs10871307	0.85[EUR][1000 genomes]
rs11149812	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11149814	0.86[EUR][1000 genomes]
rs12445211	0.82[EUR][1000 genomes]
rs12932952	0.80[EUR][1000 genomes]
rs1895489	0.84[EUR][1000 genomes]
rs2059257	0.80[EUR][1000 genomes]
rs2865532	0.82[EUR][1000 genomes]
rs3784936	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3844219	0.80[EUR][1000 genomes]
rs3851736	0.80[EUR][1000 genomes]
rs4536500	0.82[EUR][1000 genomes]
rs4887811	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887812	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4887813	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4887814	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4888370	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888371	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888374	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4888375	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4888381	0.80[EUR][1000 genomes]
rs6564245	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6564249	0.80[EUR][1000 genomes]
rs6564256	0.80[EUR][1000 genomes]
rs7187263	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7202284	0.81[EUR][1000 genomes]
rs8051611	0.80[EUR][1000 genomes]
rs8053632	0.80[EUR][1000 genomes]
rs9933956	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
rs4888369	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 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	chr16:75302200-75307400	Weak transcription	Osteobl	bone
6	chr16:75302400-75307400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:75302400-75313400	Weak transcription	HSMM	muscle
8	chr16:75302400-75314600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:75302600-75313400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr16:75304400-75307600	Enhancers	Placenta	Placenta
11	chr16:75305400-75307800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:75305400-75307800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:75305400-75309000	Enhancers	GM12878-XiMat	blood
14	chr16:75305600-75307800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:75305600-75307800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:75305600-75307800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr16:75305600-75307800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr16:75305600-75307800	Enhancers	NHLF	lung
19	chr16:75305800-75307600	Enhancers	Lung	lung
20	chr16:75305800-75307600	Enhancers	Spleen	Spleen
21	chr16:75305800-75307800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr16:75305800-75307800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:75305800-75308000	Enhancers	HUVEC	blood vessel
24	chr16:75306000-75313200	Weak transcription	Left Ventricle	heart
25	chr16:75306000-75313400	Weak transcription	Pancreas	Pancrea
26	chr16:75306200-75325000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr16:75306200-75325200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr16:75306400-75307600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:75306400-75314200	Weak transcription	Fetal Lung	lung
30	chr16:75306400-75321600	Weak transcription	Right Atrium	heart
31	chr16:75306600-75307800	Enhancers	A549	lung
32	chr16:75306800-75307400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:75306800-75307600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:75306800-75307800	Enhancers	NH-A	brain
35	chr16:75306800-75308400	Enhancers	HMEC	breast
36	chr16:75306800-75309200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:75307000-75307400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:75307000-75307400	Bivalent Enhancer	Fetal Stomach	stomach
39	chr16:75307000-75307800	Enhancers	Hela-S3	cervix
40	chr16:75307000-75307800	Enhancers	NHDF-Ad	bronchial
41	chr16:75307000-75309000	Enhancers	NHEK	skin
42	chr16:75307200-75307400	Enhancers	Colon Smooth Muscle	Colon
43	chr16:75307200-75307400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
44	chr16:75307200-75307800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr16:75307200-75307800	Enhancers	HepG2	liver
46	chr16:75307200-75308400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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