Variant report

Variant	rs60852020
Chromosome Location	chr16:75301279-75301280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75298469..75301995-chr16:75337781..75340827,6	MCF-7	breast:
2	chr1:149856624..149859065-chr16:75299349..75301400,2	MCF-7	breast:
3	chr16:75298649..75302173-chr16:75337597..75342572,10	MCF-7	breast:
4	chr16:75299703..75301536-chr16:75319943..75321807,2	K562	blood:

Variant related genes	Relation type
ENSG00000153774	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000252101	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs13331385	0.89[EUR][1000 genomes]
rs13337017	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13337397	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2287990	0.89[EUR][1000 genomes]
rs28439846	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28595463	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28690217	0.89[EUR][1000 genomes]
rs2870463	0.83[EUR][1000 genomes]
rs3743614	0.99[EUR][1000 genomes]
rs3826110	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56787417	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60470336	0.83[EUR][1000 genomes]
rs60879082	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61634868	0.83[EUR][1000 genomes]
rs6564232	0.83[EUR][1000 genomes]
rs6564233	0.83[EUR][1000 genomes]
rs6564234	0.83[EUR][1000 genomes]
rs6564236	0.83[EUR][1000 genomes]
rs6564237	0.83[EUR][1000 genomes]
rs66473537	0.83[EUR][1000 genomes]
rs66535165	0.83[EUR][1000 genomes]
rs66881382	0.83[EUR][1000 genomes]
rs67478528	0.83[EUR][1000 genomes]
rs7185352	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7195852	0.80[EUR][1000 genomes]
rs7197389	0.83[EUR][1000 genomes]
rs7197746	0.83[EUR][1000 genomes]
rs7202844	0.83[EUR][1000 genomes]
rs7202858	0.82[EUR][1000 genomes]
rs7202877	0.83[EUR][1000 genomes]
rs72802372	0.83[EUR][1000 genomes]
rs72802375	0.83[EUR][1000 genomes]
rs72804106	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73605136	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73605139	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8046145	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8048529	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8053595	0.83[EUR][1000 genomes]
rs8054218	0.83[EUR][1000 genomes]
rs8062169	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8063014	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9921586	0.84[EUR][1000 genomes]
rs9940370	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised 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
13	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
14	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
15	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
16	esv3329193	chr16:75298476-75301324	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60852020	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75300000-75301400	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr16:75300000-75301800	Enhancers	Fetal Brain Male	brain
3	chr16:75300000-75302000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:75300000-75302200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:75300200-75301400	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr16:75300200-75302400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:75300400-75301600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr16:75300400-75301800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:75300400-75302000	Weak transcription	Aorta	Aorta
10	chr16:75300400-75302000	Enhancers	Lung	lung
11	chr16:75300400-75302000	Enhancers	Right Atrium	heart
12	chr16:75300400-75302200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr16:75300400-75302400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:75300400-75302400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr16:75300400-75302400	Enhancers	Esophagus	oesophagus
16	chr16:75300400-75302400	Enhancers	Left Ventricle	heart
17	chr16:75300400-75302400	Enhancers	Psoas Muscle	Psoas
18	chr16:75300400-75303600	Weak transcription	Small Intestine	intestine
19	chr16:75300600-75301400	Enhancers	Pancreas	Pancrea
20	chr16:75300600-75301600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:75300600-75301600	Weak transcription	HUVEC	blood vessel
22	chr16:75300600-75301600	Weak transcription	NHDF-Ad	bronchial
23	chr16:75300600-75301600	Weak transcription	Osteobl	bone
24	chr16:75300600-75301800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:75300600-75302200	Enhancers	Duodenum Mucosa	Duodenum
26	chr16:75300600-75302200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
27	chr16:75300600-75302400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:75300600-75302400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:75300600-75302400	Enhancers	Colonic Mucosa	Colon
30	chr16:75300600-75302400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr16:75300600-75302400	Enhancers	Fetal Intestine Small	intestine
32	chr16:75300600-75302400	Enhancers	Placenta	Placenta
33	chr16:75300600-75302400	Bivalent Enhancer	Fetal Stomach	stomach
34	chr16:75300600-75302400	Enhancers	Rectal Smooth Muscle	rectum
35	chr16:75300600-75302400	Enhancers	Right Ventricle	heart
36	chr16:75300600-75302400	Enhancers	Stomach Mucosa	stomach
37	chr16:75300600-75302400	Enhancers	HMEC	breast
38	chr16:75300600-75302400	Enhancers	NH-A	brain
39	chr16:75300600-75302400	Enhancers	NHLF	lung
40	chr16:75300600-75303000	Enhancers	Fetal Lung	lung
41	chr16:75300600-75303600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr16:75300600-75303600	Weak transcription	Gastric	stomach
43	chr16:75300600-75303800	Enhancers	Fetal Heart	heart
44	chr16:75300600-75303800	Weak transcription	Fetal Kidney	kidney
45	chr16:75300600-75305600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr16:75300800-75301600	Enhancers	Hela-S3	cervix
47	chr16:75300800-75301800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:75300800-75301800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:75300800-75302000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:75300800-75302000	Weak transcription	Colon Smooth Muscle	Colon

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