Variant report

Variant	rs56787417
Chromosome Location	chr16:75302997-75302998
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75298255..75301654-chr16:75302973..75305723,3	K562	blood:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13331385	0.86[EUR][1000 genomes]
rs13337017	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13337397	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2287990	0.86[EUR][1000 genomes]
rs28439846	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28595463	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28690217	0.86[EUR][1000 genomes]
rs2870463	0.80[EUR][1000 genomes]
rs3743614	0.93[EUR][1000 genomes]
rs3826110	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60470336	0.80[EUR][1000 genomes]
rs60852020	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60879082	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61634868	0.80[EUR][1000 genomes]
rs6564232	0.80[EUR][1000 genomes]
rs6564233	0.80[EUR][1000 genomes]
rs6564234	0.80[EUR][1000 genomes]
rs6564236	0.80[EUR][1000 genomes]
rs6564237	0.80[EUR][1000 genomes]
rs66473537	0.80[EUR][1000 genomes]
rs66535165	0.80[EUR][1000 genomes]
rs66881382	0.80[EUR][1000 genomes]
rs67478528	0.80[EUR][1000 genomes]
rs7185352	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7197389	0.80[EUR][1000 genomes]
rs7197746	0.80[EUR][1000 genomes]
rs7202844	0.80[EUR][1000 genomes]
rs7202877	0.80[EUR][1000 genomes]
rs72802372	0.80[EUR][1000 genomes]
rs72802375	0.80[EUR][1000 genomes]
rs72804106	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73605136	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73605139	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8046145	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8048529	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8053595	0.80[EUR][1000 genomes]
rs8054218	0.80[EUR][1000 genomes]
rs8062169	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8063014	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9921586	0.82[EUR][1000 genomes]
rs9940370	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
14	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
15	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
rs56787417	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75300400-75303600	Weak transcription	Small Intestine	intestine
2	chr16:75300600-75303000	Enhancers	Fetal Lung	lung
3	chr16:75300600-75303600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:75300600-75303600	Weak transcription	Gastric	stomach
5	chr16:75300600-75303800	Enhancers	Fetal Heart	heart
6	chr16:75300600-75303800	Weak transcription	Fetal Kidney	kidney
7	chr16:75300600-75305600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:75300800-75304600	Enhancers	Fetal Muscle Leg	muscle
9	chr16:75300800-75305000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:75300800-75305400	Weak transcription	GM12878-XiMat	blood
11	chr16:75300800-75305800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr16:75301000-75305800	Weak transcription	Adipose Nuclei	Adipose
13	chr16:75301000-75325000	Weak transcription	Liver	Liver
14	chr16:75301200-75305600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:75301600-75305600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:75301800-75305600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:75301800-75305800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:75301800-75306000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:75301800-75321800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:75302000-75303600	Weak transcription	Lung	lung
21	chr16:75302000-75306000	Weak transcription	Right Atrium	heart
22	chr16:75302000-75315800	Weak transcription	Fetal Brain Female	brain
23	chr16:75302000-75324000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:75302200-75305600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr16:75302200-75305800	Weak transcription	Spleen	Spleen
26	chr16:75302200-75307400	Weak transcription	Osteobl	bone
27	chr16:75302400-75303400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:75302400-75303400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr16:75302400-75303400	Weak transcription	HepG2	liver
30	chr16:75302400-75303600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:75302400-75303600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr16:75302400-75303600	Weak transcription	Stomach Mucosa	stomach
33	chr16:75302400-75303600	Weak transcription	Hela-S3	cervix
34	chr16:75302400-75304400	Weak transcription	Placenta	Placenta
35	chr16:75302400-75305200	Weak transcription	NHDF-Ad	bronchial
36	chr16:75302400-75305400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:75302400-75305400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:75302400-75305400	Weak transcription	HSMMtube	muscle
39	chr16:75302400-75305600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:75302400-75305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:75302400-75305600	Weak transcription	NHLF	lung
42	chr16:75302400-75305800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr16:75302400-75305800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:75302400-75305800	Weak transcription	Left Ventricle	heart
45	chr16:75302400-75305800	Weak transcription	Psoas Muscle	Psoas
46	chr16:75302400-75305800	Weak transcription	HUVEC	blood vessel
47	chr16:75302400-75306000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr16:75302400-75306000	Weak transcription	A549	lung
49	chr16:75302400-75306200	Weak transcription	NH-A	brain
50	chr16:75302400-75306800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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