Variant report

Variant	rs4468683
Chromosome Location	chr17:16949140-16949141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16941343..16943728-chr17:16947873..16949492,2	MCF-7	breast:
2	chr17:16948833..16952528-chr17:16954016..16957501,7	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1047799	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10852844	0.87[ASN][1000 genomes]
rs11078368	0.88[ASN][1000 genomes]
rs11078371	0.88[ASN][1000 genomes]
rs11078372	0.87[ASN][1000 genomes]
rs11870035	0.80[ASN][1000 genomes]
rs11870422	0.84[ASN][1000 genomes]
rs11870483	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11870997	0.84[ASN][1000 genomes]
rs12451343	0.87[ASN][1000 genomes]
rs12602839	0.88[ASN][1000 genomes]
rs12603417	0.88[ASN][1000 genomes]
rs2349645	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2349648	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28452405	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34001712	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34976658	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35650871	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3744131	0.84[AFR][1000 genomes]
rs3744134	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3744137	0.80[ASN][1000 genomes]
rs3744138	0.80[ASN][1000 genomes]
rs3744139	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4073688	0.85[ASN][1000 genomes]
rs4074612	0.88[ASN][1000 genomes]
rs4629023	0.88[ASN][1000 genomes]
rs4641803	0.81[ASN][1000 genomes]
rs4985716	0.92[ASN][1000 genomes]
rs4985721	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4985728	0.88[ASN][1000 genomes]
rs4985730	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4985745	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56133536	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs57729820	0.92[ASN][1000 genomes]
rs60128647	0.88[ASN][1000 genomes]
rs61242604	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7211576	0.83[EUR][1000 genomes]
rs7212275	0.92[ASN][1000 genomes]
rs73979060	0.88[ASN][1000 genomes]
rs73979078	0.88[ASN][1000 genomes]
rs8071254	0.92[ASN][1000 genomes]
rs8076273	0.82[ASN][1000 genomes]
rs9892695	0.82[ASN][1000 genomes]
rs9897510	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9906028	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9907109	0.89[ASN][1000 genomes]
rs9910857	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4468683	M-RIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16946800-16949200	Flanking Active TSS	HUVEC	blood vessel
2	chr17:16946800-16950000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr17:16947400-16949200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr17:16947400-16949600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr17:16947400-16954000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:16947600-16949200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr17:16947600-16949400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr17:16947600-16951200	Enhancers	Liver	Liver
9	chr17:16947600-16960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:16947800-16949200	Enhancers	Placenta	Placenta
11	chr17:16947800-16949200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr17:16947800-16955200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr17:16948000-16949200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr17:16948200-16949200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:16948200-16949200	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr17:16948200-16949200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:16948200-16949400	Enhancers	Lung	lung
18	chr17:16948400-16949200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:16948400-16949200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr17:16948400-16949200	Flanking Active TSS	HMEC	breast
21	chr17:16948400-16949400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:16948400-16958600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr17:16948600-16949200	Enhancers	Brain Substantia Nigra	brain
24	chr17:16948600-16949200	Enhancers	Fetal Thymus	thymus
25	chr17:16948600-16952000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr17:16948600-16958800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:16948600-16959000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr17:16948800-16949200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:16948800-16949200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:16948800-16949200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr17:16948800-16949200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:16948800-16949200	Enhancers	Fetal Stomach	stomach
33	chr17:16948800-16949200	Transcr. at gene 5' and 3'	A549	lung
34	chr17:16948800-16949200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr17:16948800-16949400	Enhancers	Primary hematopoietic stem cells	blood
36	chr17:16948800-16949400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:16948800-16949400	Enhancers	Colon Smooth Muscle	Colon
38	chr17:16948800-16949400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr17:16948800-16949600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr17:16948800-16949600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:16948800-16949600	Enhancers	HepG2	liver
42	chr17:16948800-16950200	Enhancers	Aorta	Aorta
43	chr17:16948800-16951800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr17:16948800-16958800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr17:16949000-16949200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:16949000-16949200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr17:16949000-16949200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:16949000-16949200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:16949000-16949200	Enhancers	Fetal Lung	lung
50	chr17:16949000-16949200	Enhancers	Rectal Mucosa Donor 29	rectum

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