Variant report

Variant	rs3744133
Chromosome Location	chr17:17053661-17053662
allele	A/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	NFIC	chr17:17053607-17054207	GM12878	blood:	n/a	n/a
2	RUNX3	chr17:17053638-17054042	GM12878	blood:	n/a	n/a
3	IRF4	chr17:17053620-17054101	GM12878	blood:	n/a	n/a
4	FOXM1	chr17:17053653-17054094	GM12878	blood:	n/a	n/a
5	RCOR1	chr17:17053116-17056514	IMR90	lung:	n/a	n/a
6	STAT5A	chr17:17053523-17054077	GM12878	blood:	n/a	n/a
7	SPI1	chr17:17053143-17054013	GM12878	blood:	n/a	chr17:17053898-17053911 chr17:17053440-17053449
8	BATF	chr17:17053416-17054190	GM12878	blood:	n/a	n/a
9	ATF2	chr17:17053544-17054162	GM12878	blood:	n/a	n/a
10	MTA3	chr17:17053159-17054148	GM12878	blood:	n/a	n/a
11	IKZF1	chr17:17053406-17054127	GM12878	blood:	n/a	chr17:17053960-17053968
12	NFATC1	chr17:17053173-17054068	GM12878	blood:	n/a	n/a
13	FOXM1	chr17:17053494-17054132	GM12878	blood:	n/a	n/a
14	RUNX3	chr17:17053579-17054136	GM12878	blood:	n/a	n/a
15	NFIC	chr17:17053602-17054226	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MPRIP	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1047805	0.95[AMR][1000 genomes]
rs10852843	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10852844	0.90[AMR][1000 genomes]
rs10852845	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10852846	0.95[AMR][1000 genomes]
rs11078364	0.88[AMR][1000 genomes]
rs11078365	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11078366	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[MEX][hapmap]
rs11078370	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11078371	1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs11078372	0.90[AMR][1000 genomes]
rs11078373	1.00[MEX][hapmap];0.95[AMR][1000 genomes]
rs11078375	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1110504	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1110505	0.95[AMR][1000 genomes]
rs11651460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651938	0.81[YRI][hapmap];0.95[AMR][1000 genomes]
rs11651988	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11652079	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11652674	1.00[EUR][1000 genomes]
rs11652678	0.95[AMR][1000 genomes]
rs11652756	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11652936	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11654247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654360	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11654562	0.90[CHB][hapmap];0.93[AMR][1000 genomes]
rs11658084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11658904	1.00[CHB][hapmap];0.96[CHD][hapmap]
rs12450109	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12450213	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12450238	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12450467	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12451054	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12452303	0.81[EUR][1000 genomes]
rs12452802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12601325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12602124	0.81[EUR][1000 genomes]
rs12602129	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12602867	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16961288	1.00[CHB][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16961412	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1877631	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[ASN][1000 genomes]
rs2292526	0.91[AMR][1000 genomes]
rs3744125	0.95[AMR][1000 genomes]
rs3744127	0.95[AMR][1000 genomes]
rs3744132	1.00[MEX][hapmap];0.95[AMR][1000 genomes]
rs3744136	0.95[AMR][1000 genomes]
rs3744140	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826305	0.93[AMR][1000 genomes]
rs4073940	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs4074611	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4074612	0.90[AMR][1000 genomes]
rs4074819	0.95[AMR][1000 genomes]
rs4264448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4275916	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4283273	0.95[AMR][1000 genomes]
rs4321246	0.91[AMR][1000 genomes]
rs4606773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4621033	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4629023	0.82[MEX][hapmap]
rs4985695	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4985697	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4985698	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4985703	0.95[AMR][1000 genomes]
rs4985704	0.81[MEX][hapmap]
rs4985714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4985715	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs4985719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985727	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4985739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985742	0.88[MEX][hapmap]
rs4985744	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4985747	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55751545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56009207	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57812549	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58326998	0.95[AMR][1000 genomes]
rs58472573	0.95[AMR][1000 genomes]
rs58814183	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59394251	0.95[AMR][1000 genomes]
rs60128647	0.90[AMR][1000 genomes]
rs61018209	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7207187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7210339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7217970	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7223583	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7223686	1.00[CHB][hapmap];0.96[CHD][hapmap]
rs7223924	0.81[EUR][1000 genomes]
rs73979053	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73979054	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73979058	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73979060	0.90[AMR][1000 genomes]
rs73979061	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73979081	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73979082	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73979083	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8064991	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8066111	0.95[AMR][1000 genomes]
rs8067563	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8075751	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[MEX][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3744133	M-RIP	cis	multi-tissue	Pritchard

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	chr17:17030200-17055000	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr17:17030400-17055800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr17:17030400-17059800	Strong transcription	Fetal Intestine Small	intestine
6	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
8	chr17:17031000-17078800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr17:17031200-17057200	Strong transcription	Primary T cells from cord blood	blood
10	chr17:17031200-17067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr17:17032000-17055000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:17032000-17073800	Strong transcription	Fetal Lung	lung
13	chr17:17032200-17073600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:17034800-17072800	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr17:17037200-17074200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
17	chr17:17038800-17058400	Weak transcription	Fetal Brain Male	brain
18	chr17:17041400-17054200	Strong transcription	Hela-S3	cervix
19	chr17:17043000-17055200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:17044200-17083600	Strong transcription	Thymus	Thymus
21	chr17:17044600-17053800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:17044600-17054800	Strong transcription	Liver	Liver
23	chr17:17044800-17054600	Strong transcription	Adipose Nuclei	Adipose
24	chr17:17045000-17054600	Strong transcription	Placenta	Placenta
25	chr17:17045000-17088400	Strong transcription	Brain Germinal Matrix	brain
26	chr17:17045200-17054000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:17045200-17055800	Strong transcription	Fetal Thymus	thymus
28	chr17:17045200-17071600	Strong transcription	Primary B cells from cord blood	blood
29	chr17:17045200-17075600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr17:17045200-17093800	Strong transcription	Fetal Stomach	stomach
31	chr17:17045600-17054600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:17045600-17071000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr17:17045600-17072800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr17:17045800-17053800	Strong transcription	Esophagus	oesophagus
35	chr17:17045800-17055000	Strong transcription	Ovary	ovary
36	chr17:17045800-17059200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:17045800-17065600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr17:17046000-17054800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr17:17046000-17059800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr17:17046200-17053800	Strong transcription	Brain Angular Gyrus	brain
41	chr17:17046400-17054600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr17:17047400-17054800	Strong transcription	Lung	lung
43	chr17:17047400-17056600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr17:17047400-17059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr17:17047600-17054800	Weak transcription	Small Intestine	intestine
46	chr17:17047600-17066200	Weak transcription	K562	blood
47	chr17:17047800-17054200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr17:17048600-17055400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr17:17049200-17054600	Weak transcription	Fetal Heart	heart
50	chr17:17049800-17054800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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