Variant report

Variant	rs3865166
Chromosome Location	chr16:74479953-74479954
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	chr16:74474948..74476830-chr16:74479473..74481845,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10871290	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11149709	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11149710	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11649338	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12447063	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12449101	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12598791	0.81[JPT][hapmap]
rs12600126	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs2288054	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs28607667	0.88[ASN][1000 genomes]
rs3760055	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs3851726	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3851728	0.92[AFR][1000 genomes]
rs3863435	0.89[AFR][1000 genomes]
rs3863436	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3863439	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3896277	0.85[AFR][1000 genomes]
rs4099290	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6564097	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7498574	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8063458	0.95[AFR][1000 genomes];0.88[ASN][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	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1066212	chr16:74068470-74527133	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv542954	chr16:74068470-74527133	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1065964	chr16:74088091-74575604	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
6	esv2758431	chr16:74334780-74587185	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	esv2758656	chr16:74334780-74587185	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv833277	chr16:74334787-74498133	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	esv2762054	chr16:74337036-74507056	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1817585	chr16:74355081-74486997	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
11	esv1829589	chr16:74366364-74496761	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv428806	chr16:74394226-74580125	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv833278	chr16:74415944-74584123	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1056566	chr16:74456589-74482388	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
15	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3865166	RFWD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74455600-74480600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:74463000-74480600	Weak transcription	Brain Germinal Matrix	brain
3	chr16:74465600-74481600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:74465600-74481600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr16:74465800-74480400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr16:74465800-74480400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:74465800-74480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:74465800-74481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:74466600-74483200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:74467200-74480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:74467800-74483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:74468200-74498400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr16:74468800-74483200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr16:74469200-74481400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:74470400-74483000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:74470600-74481800	Weak transcription	Fetal Lung	lung
17	chr16:74470600-74483600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:74470600-74484800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:74470800-74481800	Weak transcription	Fetal Brain Female	brain
20	chr16:74471000-74485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr16:74471200-74483000	Weak transcription	Gastric	stomach
22	chr16:74471400-74481000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr16:74471400-74482200	Weak transcription	Hela-S3	cervix
24	chr16:74471600-74483600	Weak transcription	GM12878-XiMat	blood
25	chr16:74472400-74481200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr16:74472600-74480600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr16:74472600-74485000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr16:74472800-74480400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:74472800-74480400	Weak transcription	Left Ventricle	heart
30	chr16:74473000-74480600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr16:74473000-74480800	Weak transcription	Esophagus	oesophagus
32	chr16:74473000-74481600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr16:74473000-74482200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr16:74473000-74483000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr16:74473000-74483200	Weak transcription	K562	blood
36	chr16:74473000-74484000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr16:74473000-74485400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr16:74473000-74486800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr16:74473000-74487000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:74473200-74480400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr16:74473200-74480600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr16:74473200-74483000	Weak transcription	Primary B cells from cord blood	blood
43	chr16:74473200-74483000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr16:74473200-74485600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr16:74473400-74480400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr16:74473400-74480800	Weak transcription	HUVEC	blood vessel
47	chr16:74473400-74481600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr16:74473400-74481800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr16:74473400-74483200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr16:74473600-74480400	Weak transcription	Primary T cells fromperipheralblood	blood

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