Variant report

Variant	rs247443
Chromosome Location	chr16:75465073-75465074
allele	C/G
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
ENSG00000261717	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000166822	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1017239	0.80[ASN][1000 genomes]
rs1074961	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11149833	0.81[ASN][1000 genomes]
rs11639783	0.81[ASN][1000 genomes]
rs11641587	0.81[ASN][1000 genomes]
rs11644741	0.82[ASN][1000 genomes]
rs11645691	0.83[ASN][1000 genomes]
rs11646418	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12445726	0.82[ASN][1000 genomes]
rs12446903	0.85[ASN][1000 genomes]
rs12448947	0.80[ASN][1000 genomes]
rs12917651	0.82[ASN][1000 genomes]
rs12930768	0.81[ASN][1000 genomes]
rs12932952	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12935329	0.81[ASN][1000 genomes]
rs1540	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs185052	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032926	0.80[ASN][1000 genomes]
rs2059257	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2242405	0.82[ASN][1000 genomes]
rs247423	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs247424	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs247425	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs247427	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs247431	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs247434	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs247436	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs247437	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs247438	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs247439	0.84[AMR][1000 genomes]
rs247442	0.80[EUR][1000 genomes]
rs247447	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs247450	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2865527	0.85[ASN][1000 genomes]
rs35787595	0.82[ASN][1000 genomes]
rs3743609	0.82[ASN][1000 genomes]
rs37588	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs37589	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs37599	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs37601	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs37602	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs37605	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3844219	0.85[EUR][1000 genomes]
rs3851735	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3851736	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs40217	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs42472	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs455407	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs467223	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs467780	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs468079	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4887828	0.81[ASN][1000 genomes]
rs4888381	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888393	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4888394	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4888395	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4888396	0.85[ASN][1000 genomes]
rs4888397	0.82[ASN][1000 genomes]
rs4888398	0.85[ASN][1000 genomes]
rs4993971	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62062595	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564249	0.82[EUR][1000 genomes]
rs6564256	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71394219	0.81[ASN][1000 genomes]
rs7201989	0.97[ASN][1000 genomes]
rs7202284	0.86[EUR][1000 genomes]
rs766522	0.85[ASN][1000 genomes]
rs8046184	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8046416	0.80[ASN][1000 genomes]
rs8046949	0.85[ASN][1000 genomes]
rs8048677	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8048816	0.85[ASN][1000 genomes]
rs8049611	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8050662	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8051611	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8053632	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8054586	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8055609	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs977986	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9923834	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9933956	0.81[ASN][1000 genomes]
rs9934007	0.83[ASN][1000 genomes]
rs9989421	0.85[ASN][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
rs247443	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 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	chr16:75446200-75465200	Weak transcription	Lung	lung
5	chr16:75446600-75465400	Weak transcription	Small Intestine	intestine
6	chr16:75446600-75466400	Weak transcription	Brain Angular Gyrus	brain
7	chr16:75446600-75466400	Weak transcription	Right Ventricle	heart
8	chr16:75446800-75466000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr16:75446800-75466400	Weak transcription	Fetal Brain Female	brain
10	chr16:75446800-75466400	Weak transcription	HSMM	muscle
11	chr16:75447000-75466400	Weak transcription	Liver	Liver
12	chr16:75453600-75466400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:75453800-75466400	Weak transcription	Psoas Muscle	Psoas
14	chr16:75453800-75466600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:75455200-75465400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:75455200-75465400	Weak transcription	Right Atrium	heart
17	chr16:75455200-75466000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:75455400-75465400	Weak transcription	Fetal Thymus	thymus
19	chr16:75455600-75466400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:75455600-75466400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:75455600-75466400	Weak transcription	Primary B cells from cord blood	blood
22	chr16:75455600-75466400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr16:75455600-75466400	Weak transcription	NH-A	brain
24	chr16:75455800-75465400	Weak transcription	Brain Anterior Caudate	brain
25	chr16:75455800-75465600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr16:75455800-75465600	Weak transcription	Thymus	Thymus
27	chr16:75455800-75466000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr16:75455800-75466000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr16:75455800-75466200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:75455800-75466200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr16:75455800-75466200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr16:75455800-75466200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:75455800-75466200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:75455800-75466200	Weak transcription	HMEC	breast
35	chr16:75455800-75466200	Weak transcription	NHEK	skin
36	chr16:75455800-75466400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:75455800-75466400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr16:75455800-75466400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr16:75455800-75466400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:75455800-75466400	Weak transcription	Fetal Lung	lung
41	chr16:75455800-75466400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr16:75455800-75466400	Weak transcription	A549	lung
43	chr16:75456000-75465200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:75456000-75465400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr16:75456000-75465800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr16:75456800-75466200	Weak transcription	Fetal Kidney	kidney
47	chr16:75458200-75466200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:75458400-75465800	Weak transcription	Adipose Nuclei	Adipose
49	chr16:75458600-75466000	Weak transcription	Ovary	ovary
50	chr16:75459200-75466200	Enhancers	HepG2	liver

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