Variant report

Variant	rs7650771
Chromosome Location	chr3:113046607-113046608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11914580	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11914782	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];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11919031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11920725	1.00[MEX][hapmap]
rs11923128	1.00[MEX][hapmap]
rs11926687	1.00[MEX][hapmap]
rs11927007	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11929418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1463641	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];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1463642	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16845107	0.82[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16860847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860861	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860919	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16861014	1.00[MEX][hapmap]
rs16861023	1.00[MEX][hapmap]
rs16861045	1.00[MEX][hapmap]
rs16861109	1.00[MEX][hapmap]
rs17256551	1.00[MEX][hapmap]
rs1906141	1.00[MEX][hapmap]
rs2007579	0.82[EUR][1000 genomes]
rs2399483	0.84[EUR][1000 genomes]
rs3732807	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];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3732808	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];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3732810	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3912553	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4103250	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56794625	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57417572	0.89[AFR][1000 genomes]
rs57566915	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58686141	0.84[EUR][1000 genomes]
rs58884094	0.84[EUR][1000 genomes]
rs58918720	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59048818	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59631554	0.84[EUR][1000 genomes]
rs59666592	0.84[EUR][1000 genomes]
rs60079554	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60264945	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60487041	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60706093	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60874496	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61000519	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6438139	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6764524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6780604	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6783691	1.00[MEX][hapmap]
rs6790910	0.82[LWK][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap]
rs6792091	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6794923	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6795288	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6808878	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946779	0.84[EUR][1000 genomes]
rs7429847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7617723	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7618598	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7618941	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7621031	0.92[AFR][1000 genomes]
rs7621039	0.92[AFR][1000 genomes]
rs7621213	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7621337	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7622062	0.83[AFR][1000 genomes]
rs7622952	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7624000	0.84[YRI][hapmap]
rs7627145	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7629899	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7632927	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7634526	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7634713	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7635203	0.81[AFR][1000 genomes]
rs7636912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7636986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7640376	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7644337	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7648620	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7650500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9682108	0.84[EUR][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7650771	IFI44L	trans	lymphoblastoid	seeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113013600-113065200	Weak transcription	Left Ventricle	heart
2	chr3:113024600-113081000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:113028600-113053400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr3:113034400-113046800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr3:113034800-113048400	Weak transcription	Fetal Lung	lung
6	chr3:113034800-113053600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:113034800-113054000	Weak transcription	Psoas Muscle	Psoas
8	chr3:113035000-113050800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:113035000-113052000	Weak transcription	HSMMtube	muscle
10	chr3:113035000-113053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:113035400-113052800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:113036400-113053400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr3:113036400-113055600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:113036600-113049800	Weak transcription	Fetal Intestine Large	intestine
15	chr3:113036600-113051000	Weak transcription	Thymus	Thymus
16	chr3:113036600-113081000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:113036800-113050000	Weak transcription	Right Ventricle	heart
18	chr3:113036800-113050400	Weak transcription	Lung	lung
19	chr3:113036800-113065600	Weak transcription	Aorta	Aorta
20	chr3:113036800-113073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:113036800-113081000	Weak transcription	Gastric	stomach
22	chr3:113036800-113088600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:113037000-113053600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:113037800-113065600	Weak transcription	HSMM	muscle
25	chr3:113042000-113080800	Weak transcription	Ovary	ovary
26	chr3:113042200-113116800	Weak transcription	Primary B cells from cord blood	blood
27	chr3:113042400-113059800	Weak transcription	Pancreas	Pancrea
28	chr3:113042400-113103600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr3:113043800-113065600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:113044400-113047000	Weak transcription	Fetal Heart	heart
31	chr3:113045200-113048000	Weak transcription	Primary T cells from cord blood	blood
32	chr3:113045200-113048800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:113045200-113048800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:113045200-113050600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr3:113045400-113047000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:113045400-113047000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:113045400-113048200	Weak transcription	Adipose Nuclei	Adipose
38	chr3:113045400-113048600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:113045400-113049200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:113045400-113050000	Weak transcription	Fetal Kidney	kidney
41	chr3:113045400-113050800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:113045400-113051400	Weak transcription	Liver	Liver
43	chr3:113045400-113053000	Weak transcription	Brain Anterior Caudate	brain
44	chr3:113045400-113055400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:113045400-113097600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:113045600-113073000	Weak transcription	A549	lung
47	chr3:113046600-113049600	Weak transcription	Fetal Muscle Leg	muscle

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