Variant report

Variant	rs1918752
Chromosome Location	chr6:144909077-144909078
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12661566	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12663647	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12664494	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12664819	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1534442	0.87[JPT][hapmap]
rs1534443	0.87[JPT][hapmap]
rs1534444	0.86[JPT][hapmap]
rs17073972	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs17073995	0.85[GIH][hapmap];0.86[MEX][hapmap]
rs1918751	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997252	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2056744	0.85[GIH][hapmap]
rs2091486	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2293536	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3811100	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4076068	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4896728	1.00[CHB][hapmap];0.80[JPT][hapmap];0.98[ASN][1000 genomes]
rs6906465	0.87[JPT][hapmap]
rs9321980	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9373415	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs9376823	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9376824	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9376826	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9376828	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9386070	0.88[ASN][1000 genomes]
rs9386071	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9386072	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9386073	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9390170	0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[ASN][1000 genomes]
rs9390172	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390174	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9390175	0.95[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[ASN][1000 genomes]
rs9390176	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9390178	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9390184	0.83[JPT][hapmap]
rs9399480	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9399481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9403563	0.95[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs9403564	0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9403567	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9403572	0.82[JPT][hapmap]
rs9497009	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[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	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1918752	IFI44	trans	brain	seeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144881800-144937800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:144885800-144943400	Weak transcription	Ovary	ovary
3	chr6:144898600-144912800	Weak transcription	Gastric	stomach
4	chr6:144899600-144913800	Weak transcription	Lung	lung
5	chr6:144899600-144931800	Weak transcription	Esophagus	oesophagus
6	chr6:144899800-144914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:144899800-144914400	Weak transcription	Fetal Intestine Small	intestine
8	chr6:144899800-144917400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:144900000-144915400	Weak transcription	Pancreas	Pancrea
10	chr6:144904400-144931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:144904400-144931800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:144904600-144910400	Weak transcription	Right Ventricle	heart
13	chr6:144904600-144913000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:144904600-144913600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:144904600-144913800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:144904600-144914400	Weak transcription	HSMM	muscle
17	chr6:144904600-144915800	Weak transcription	Psoas Muscle	Psoas
18	chr6:144904600-144915800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:144904600-144916400	Weak transcription	Fetal Stomach	stomach
20	chr6:144904600-144921600	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:144904600-144923600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:144904600-144939800	Weak transcription	HSMMtube	muscle
23	chr6:144904800-144911000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:144904800-144913400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:144904800-144914200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:144904800-144914200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:144904800-144914200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:144904800-144914600	Weak transcription	Spleen	Spleen
29	chr6:144904800-144915800	Weak transcription	NH-A	brain
30	chr6:144904800-144921200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:144904800-144929000	Weak transcription	Left Ventricle	heart
32	chr6:144904800-144935400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:144905000-144909800	Weak transcription	Fetal Kidney	kidney
34	chr6:144905200-144912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:144905400-144923200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:144905400-144923400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr6:144905800-144911200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:144905800-144913000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:144905800-144915400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:144905800-144922200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:144906200-144910000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:144906400-144911600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:144906400-144913600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:144906400-144918600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:144906400-144922800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:144906800-144914800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:144907200-144909800	Enhancers	Fetal Heart	heart
48	chr6:144907400-144914600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:144907400-144914600	Weak transcription	Fetal Lung	lung
50	chr6:144907600-144909200	Enhancers	HUES48 Cell Line	embryonic stem cell

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