Variant report

Variant	rs59394251
Chromosome Location	chr17:17056737-17056738
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr17:17056726-17057374	MCF10A-Er-Src	breast:	n/a	chr17:17057160-17057169

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17053885..17056874-chr17:17067552..17069727,2	K562	blood:

Variant related genes	Relation type
MPRIP	TF binding region
ENSG00000133030	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs1047799	0.89[ASN][1000 genomes]
rs1047805	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10852843	0.90[AMR][1000 genomes]
rs10852844	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10852845	0.90[AMR][1000 genomes]
rs10852846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078364	0.83[AMR][1000 genomes]
rs11078365	0.88[AMR][1000 genomes]
rs11078368	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11078370	0.90[AMR][1000 genomes]
rs11078371	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11078372	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078373	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11078375	0.95[AMR][1000 genomes]
rs1110504	0.95[AMR][1000 genomes]
rs1110505	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11551189	0.98[ASN][1000 genomes]
rs11651460	0.95[AMR][1000 genomes]
rs11651938	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11651988	0.90[AMR][1000 genomes]
rs11652079	0.95[AMR][1000 genomes]
rs11652678	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11652756	0.90[AMR][1000 genomes]
rs11652936	0.90[AMR][1000 genomes]
rs11654247	0.95[AMR][1000 genomes]
rs11654360	0.86[AMR][1000 genomes]
rs11654562	0.88[AMR][1000 genomes]
rs11654887	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657189	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11658084	0.90[AMR][1000 genomes]
rs11870035	0.96[ASN][1000 genomes]
rs11870483	0.86[ASN][1000 genomes]
rs12450109	0.90[AMR][1000 genomes]
rs12450213	0.88[AMR][1000 genomes]
rs12450238	0.88[AMR][1000 genomes]
rs12450467	0.90[AMR][1000 genomes]
rs12451054	0.90[AMR][1000 genomes]
rs12451343	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12452802	0.95[AMR][1000 genomes]
rs12601325	0.95[AMR][1000 genomes]
rs12602129	0.90[AMR][1000 genomes]
rs12602583	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12602592	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12602839	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12602867	0.95[AMR][1000 genomes]
rs12603417	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1567815	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961288	0.90[AMR][1000 genomes]
rs16961412	0.88[AMR][1000 genomes]
rs17794784	0.94[ASN][1000 genomes]
rs2292526	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292530	0.94[ASN][1000 genomes]
rs2349645	0.96[ASN][1000 genomes]
rs2349648	0.86[ASN][1000 genomes]
rs28452405	0.85[ASN][1000 genomes]
rs34001712	0.85[ASN][1000 genomes]
rs34976658	0.91[ASN][1000 genomes]
rs35650871	0.82[ASN][1000 genomes]
rs3744125	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3744127	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3744131	0.98[ASN][1000 genomes]
rs3744132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3744133	0.95[AMR][1000 genomes]
rs3744134	0.94[ASN][1000 genomes]
rs3744136	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3744137	0.96[ASN][1000 genomes]
rs3744138	0.96[ASN][1000 genomes]
rs3744139	0.96[ASN][1000 genomes]
rs3744140	0.95[AMR][1000 genomes]
rs3826305	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4073688	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4074611	0.90[AMR][1000 genomes]
rs4074612	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4074819	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4264448	0.90[AMR][1000 genomes]
rs4275916	0.90[AMR][1000 genomes]
rs4283273	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4321246	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4606773	0.90[AMR][1000 genomes]
rs4621033	0.90[AMR][1000 genomes]
rs4629023	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4985695	0.90[AMR][1000 genomes]
rs4985697	0.90[AMR][1000 genomes]
rs4985698	0.90[AMR][1000 genomes]
rs4985703	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985704	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985714	0.90[AMR][1000 genomes]
rs4985716	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4985719	0.90[AMR][1000 genomes]
rs4985721	0.85[ASN][1000 genomes]
rs4985727	0.90[AMR][1000 genomes]
rs4985728	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4985730	0.86[ASN][1000 genomes]
rs4985737	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985739	0.95[AMR][1000 genomes]
rs4985741	0.91[ASN][1000 genomes]
rs4985742	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4985743	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4985744	0.95[AMR][1000 genomes]
rs4985745	0.91[ASN][1000 genomes]
rs4985747	0.90[AMR][1000 genomes]
rs55751545	0.95[AMR][1000 genomes]
rs56009207	0.90[AMR][1000 genomes]
rs56133536	0.96[ASN][1000 genomes]
rs57729820	0.83[ASN][1000 genomes]
rs57812549	0.93[AMR][1000 genomes]
rs58326998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58472573	0.90[AMR][1000 genomes]
rs58814183	0.90[AMR][1000 genomes]
rs60128647	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61018209	0.95[AMR][1000 genomes]
rs7207187	0.90[AMR][1000 genomes]
rs7210339	0.90[AMR][1000 genomes]
rs7211576	0.91[ASN][1000 genomes]
rs7212275	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7214429	0.98[ASN][1000 genomes]
rs7216677	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7217970	0.95[AMR][1000 genomes]
rs7223583	0.90[AMR][1000 genomes]
rs73979053	0.83[AMR][1000 genomes]
rs73979054	0.90[AMR][1000 genomes]
rs73979058	0.90[AMR][1000 genomes]
rs73979060	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73979061	0.90[AMR][1000 genomes]
rs73979078	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73979081	0.90[AMR][1000 genomes]
rs73979082	0.90[AMR][1000 genomes]
rs73979083	0.90[AMR][1000 genomes]
rs8064991	0.95[AMR][1000 genomes]
rs8066111	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8066234	0.91[ASN][1000 genomes]
rs8067563	0.90[AMR][1000 genomes]
rs8069259	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8071254	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8077360	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9893676	0.98[ASN][1000 genomes]
rs9895060	0.82[ASN][1000 genomes]
rs9897510	0.98[ASN][1000 genomes]
rs9906028	0.82[ASN][1000 genomes]
rs9907109	0.83[ASN][1000 genomes]
rs9910857	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv524958	chr17:17029718-17060805	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs59394251	M-RIP	Cis_1M	lymphoblastoid	RTeQTL
rs59394251	LOC201164	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17029800-17088400	Strong transcription	Dnd41	blood
2	chr17:17030000-17088000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr17:17030400-17059800	Strong transcription	Fetal Intestine Small	intestine
4	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
6	chr17:17031000-17078800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr17:17031200-17057200	Strong transcription	Primary T cells from cord blood	blood
8	chr17:17031200-17067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr17:17032000-17073800	Strong transcription	Fetal Lung	lung
10	chr17:17032200-17073600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:17034800-17072800	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr17:17037200-17074200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
14	chr17:17038800-17058400	Weak transcription	Fetal Brain Male	brain
15	chr17:17044200-17083600	Strong transcription	Thymus	Thymus
16	chr17:17045000-17088400	Strong transcription	Brain Germinal Matrix	brain
17	chr17:17045200-17071600	Strong transcription	Primary B cells from cord blood	blood
18	chr17:17045200-17075600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr17:17045200-17093800	Strong transcription	Fetal Stomach	stomach
20	chr17:17045600-17071000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr17:17045600-17072800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr17:17045800-17059200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:17045800-17065600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:17046000-17059800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr17:17047400-17059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:17047600-17066200	Weak transcription	K562	blood
27	chr17:17050400-17073800	Strong transcription	Fetal Muscle Leg	muscle
28	chr17:17050800-17057200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:17051000-17093200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:17052400-17056800	Genic enhancers	HSMM	muscle
31	chr17:17053000-17078000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr17:17053200-17060600	Genic enhancers	NHEK	skin
33	chr17:17053200-17060800	Genic enhancers	HMEC	breast
34	chr17:17053200-17061000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr17:17053200-17067200	Strong transcription	HepG2	liver
36	chr17:17053200-17072600	Strong transcription	Pancreas	Pancrea
37	chr17:17053200-17074600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:17053200-17088200	Strong transcription	Gastric	stomach
39	chr17:17053400-17062800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr17:17053600-17060600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:17054000-17062200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr17:17054200-17057000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:17054200-17061800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr17:17054600-17056800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr17:17054600-17056800	Genic enhancers	Brain Inferior Temporal Lobe	brain
46	chr17:17054600-17057000	Genic enhancers	Right Ventricle	heart
47	chr17:17054600-17057400	Genic enhancers	Spleen	Spleen
48	chr17:17054600-17057600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:17054600-17059400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
50	chr17:17054600-17064000	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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