Variant report

Variant	rs185052
Chromosome Location	chr16:75467063-75467064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75465910..75469192-chr16:75654368..75658890,6	K562	blood:
2	chr16:75440851..75444308-chr16:75465493..75468084,3	MCF-7	breast:
3	chr16:75467060..75468632-chr16:75654952..75657400,2	K562	blood:
4	chr16:66967901..66968593-chr16:75466894..75467429,2	Hela-S3	cervix:
5	chr16:75284019..75287279-chr16:75466611..75469457,3	MCF-7	breast:
6	chr16:75465991..75469604-chr16:75494524..75499996,12	MCF-7	breast:
7	chr16:75466440..75468341-chr16:75498328..75499164,5	MCF-7	breast:
8	chr16:75465449..75469390-chr16:75587663..75590801,6	K562	blood:
9	chr16:75466173..75469509-chr16:75680461..75683235,3	K562	blood:
10	chr1:147806696..147807392-chr16:75467009..75467821,2	Hela-S3	cervix:
11	chr16:75284907..75286555-chr16:75465225..75468013,2	MCF-7	breast:
12	chr16:75466075..75467662-chr16:75587828..75590094,2	MCF-7	breast:
13	chr16:75466841..75469026-chr16:75598696..75600730,2	MCF-7	breast:
14	chr16:75466031..75468931-chr16:75549812..75551653,2	K562	blood:
15	chr16:75279924..75282284-chr16:75466090..75468408,2	K562	blood:
16	chr16:75466586..75469509-chr16:75679295..75683235,4	K562	blood:
17	chr16:75465566..75468619-chr16:75548282..75552307,4	MCF-7	breast:
18	chr16:75464062..75469543-chr16:75495268..75500189,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261717	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000034713	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000172831	Chromatin interaction
ENSG00000166595	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000252122	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1017239	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs1074961	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10781977	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs10871308	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs11149812	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs11149813	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs11149832	0.82[CHB][hapmap];0.82[JPT][hapmap]
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	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11646418	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12445726	0.82[ASN][1000 genomes]
rs12445813	0.86[JPT][hapmap]
rs12446903	0.85[ASN][1000 genomes]
rs12448947	0.80[ASN][1000 genomes]
rs12917651	0.82[CHB][hapmap];0.82[JPT][hapmap];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]
rs1862705	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs2032926	0.80[ASN][1000 genomes]
rs2059257	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2242405	0.86[JPT][hapmap];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	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];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	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];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]
rs247443	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247447	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];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	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs37605	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3784936	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs3844219	0.85[EUR][1000 genomes]
rs3851735	1.00[CEU][hapmap];0.91[JPT][hapmap];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	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4536500	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
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	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4887828	0.83[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4888381	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888393	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];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	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4888397	0.82[ASN][1000 genomes]
rs4888398	0.85[ASN][1000 genomes]
rs4993971	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];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]
rs7187690	0.93[CEU][hapmap]
rs7189407	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7201989	0.97[ASN][1000 genomes]
rs7202284	1.00[CEU][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes]
rs766522	0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs8046184	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8046416	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs8046949	0.85[ASN][1000 genomes]
rs8048677	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8048816	0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs8049611	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8050662	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];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	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8054586	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8055609	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8055974	0.83[JPT][hapmap]
rs889446	0.81[JPT][hapmap]
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	0.82[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs9989421	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	esv32560	chr16:75465765-75471455	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv516019	chr16:75466696-75473332	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	nsv521596	chr16:75466696-75486648	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs185052	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75465400-75468600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr16:75466000-75468600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:75466000-75468600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:75466000-75468600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:75466200-75467200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:75466200-75467200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:75466200-75467200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr16:75466200-75468000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:75466200-75468000	Active TSS	NHEK	skin
10	chr16:75466200-75468200	Active TSS	Brain Germinal Matrix	brain
11	chr16:75466200-75468200	Active TSS	HMEC	breast
12	chr16:75466200-75468400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr16:75466200-75468400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:75466200-75468400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr16:75466200-75468600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:75466200-75468600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr16:75466200-75468600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:75466200-75468800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr16:75466200-75468800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr16:75466200-75468800	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr16:75466200-75468800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr16:75466400-75467200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr16:75466400-75467800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:75466400-75467800	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr16:75466400-75468000	Active TSS	Primary T cells from cord blood	blood
26	chr16:75466400-75468000	Active TSS	Muscle Satellite Cultured Cells	--
27	chr16:75466400-75468200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:75466400-75468200	Active TSS	Fetal Brain Female	brain
29	chr16:75466400-75468200	Active TSS	GM12878-XiMat	blood
30	chr16:75466400-75468400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr16:75466400-75468400	Active TSS	Brain Substantia Nigra	brain
32	chr16:75466400-75468400	Active TSS	Fetal Lung	lung
33	chr16:75466400-75468400	Active TSS	Osteobl	bone
34	chr16:75466400-75468600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:75466400-75468600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr16:75466400-75468600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:75466400-75468600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:75466400-75468600	Active TSS	Stomach Smooth Muscle	stomach
39	chr16:75466400-75468600	Active TSS	HSMMtube	muscle
40	chr16:75466400-75468600	Active TSS	NHDF-Ad	bronchial
41	chr16:75466400-75468800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr16:75466400-75468800	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr16:75466400-75468800	Active TSS	Left Ventricle	heart
44	chr16:75466400-75468800	Active TSS	Ovary	ovary
45	chr16:75466400-75468800	Active TSS	Psoas Muscle	Psoas
46	chr16:75466400-75468800	Active TSS	HSMM	muscle
47	chr16:75466400-75469200	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr16:75466600-75468000	Active TSS	Placenta Amnion	Placenta Amnion
49	chr16:75466600-75468000	Active TSS	NH-A	brain
50	chr16:75466600-75468200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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