Variant report

Variant	rs247442
Chromosome Location	chr16:75464621-75464622
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75461755..75465193-chr16:75465257..75469613,6	MCF-7	breast:
2	chr16:75463216..75465298-chr16:75466463..75468446,2	K562	blood:
3	chr16:75464062..75469543-chr16:75495268..75500189,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166822	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000153774	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs185052	0.80[EUR][1000 genomes]
rs247443	0.80[EUR][1000 genomes]
rs37588	0.80[EUR][1000 genomes]
rs37589	0.80[EUR][1000 genomes]
rs42472	0.80[EUR][1000 genomes]
rs7187690	0.83[EUR][1000 genomes]
rs7202083	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs247442	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75427200-75465400	Weak transcription	Spleen	Spleen
2	chr16:75432400-75465400	Weak transcription	Pancreas	Pancrea
3	chr16:75432400-75466600	Weak transcription	Aorta	Aorta
4	chr16:75445200-75465000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:75446200-75465200	Weak transcription	Lung	lung
6	chr16:75446600-75465400	Weak transcription	Small Intestine	intestine
7	chr16:75446600-75466400	Weak transcription	Brain Angular Gyrus	brain
8	chr16:75446600-75466400	Weak transcription	Right Ventricle	heart
9	chr16:75446800-75466000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr16:75446800-75466400	Weak transcription	Fetal Brain Female	brain
11	chr16:75446800-75466400	Weak transcription	HSMM	muscle
12	chr16:75447000-75466400	Weak transcription	Liver	Liver
13	chr16:75450800-75465000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr16:75453600-75466400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:75453800-75466400	Weak transcription	Psoas Muscle	Psoas
16	chr16:75453800-75466600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:75455200-75465000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr16:75455200-75465400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:75455200-75465400	Weak transcription	Right Atrium	heart
20	chr16:75455200-75466000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr16:75455400-75465400	Weak transcription	Fetal Thymus	thymus
22	chr16:75455600-75465000	Weak transcription	Primary T cells from cord blood	blood
23	chr16:75455600-75465000	Weak transcription	Brain Hippocampus Middle	brain
24	chr16:75455600-75466400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr16:75455600-75466400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:75455600-75466400	Weak transcription	Primary B cells from cord blood	blood
27	chr16:75455600-75466400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr16:75455600-75466400	Weak transcription	NH-A	brain
29	chr16:75455800-75464800	Weak transcription	GM12878-XiMat	blood
30	chr16:75455800-75465000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr16:75455800-75465000	Weak transcription	Left Ventricle	heart
32	chr16:75455800-75465400	Weak transcription	Brain Anterior Caudate	brain
33	chr16:75455800-75465600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr16:75455800-75465600	Weak transcription	Thymus	Thymus
35	chr16:75455800-75466000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr16:75455800-75466000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr16:75455800-75466200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr16:75455800-75466200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr16:75455800-75466200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr16:75455800-75466200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:75455800-75466200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:75455800-75466200	Weak transcription	HMEC	breast
43	chr16:75455800-75466200	Weak transcription	NHEK	skin
44	chr16:75455800-75466400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr16:75455800-75466400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:75455800-75466400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr16:75455800-75466400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr16:75455800-75466400	Weak transcription	Fetal Lung	lung
49	chr16:75455800-75466400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr16:75455800-75466400	Weak transcription	A549	lung

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