Variant report

Variant	rs1349583
Chromosome Location	chr11:3972236-3972237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3963150..3965730-chr11:3971154..3972718,2	K562	blood:
2	chr11:3966514..3968687-chr11:3969725..3973118,3	K562	blood:
3	chr11:3952774..3955430-chr11:3970846..3973149,2	K562	blood:

Variant related genes	Relation type
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1013351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10500590	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10742200	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs10767702	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10767713	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10767715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10767767	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10767811	0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs10835239	0.81[CEU][hapmap]
rs10835311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835312	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835333	0.81[TSI][hapmap]
rs10835337	0.81[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs10835340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835359	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835390	0.87[EUR][1000 genomes]
rs10835399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835403	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835407	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835454	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10835474	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835508	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10835521	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10835540	0.83[CEU][hapmap];0.94[CHB][hapmap]
rs10835556	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10835557	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10835561	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10835596	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs10835597	0.84[EUR][1000 genomes]
rs10835601	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10835604	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11030276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11030404	0.87[GIH][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs11030579	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11030599	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11030627	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11030631	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11030639	0.95[CEU][hapmap];0.93[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11030660	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11030781	0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs11030918	0.89[GIH][hapmap]
rs11493482	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11828337	0.87[EUR][1000 genomes]
rs12223176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12281293	1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12283447	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12286710	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12290747	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12295138	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1442726	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1452047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1452048	0.87[EUR][1000 genomes]
rs16929438	0.85[LWK][hapmap];0.89[YRI][hapmap]
rs16929531	0.89[YRI][hapmap]
rs16929551	1.00[LWK][hapmap];0.89[YRI][hapmap]
rs16929583	0.89[YRI][hapmap]
rs17081	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17279635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839910	0.87[EUR][1000 genomes]
rs2119987	0.81[EUR][1000 genomes]
rs2412338	0.88[EUR][1000 genomes]
rs2898947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910590	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910596	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4910597	0.84[EUR][1000 genomes]
rs4910598	0.83[EUR][1000 genomes]
rs4910866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910869	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910875	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4910877	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4910880	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs6578424	0.83[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs66503725	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66596383	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67065286	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67300156	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7102215	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7113845	0.86[EUR][1000 genomes]
rs7128762	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7129444	0.91[GIH][hapmap]
rs714380	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71466139	0.83[ASN][1000 genomes]
rs720571	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs750525	0.81[TSI][hapmap]
rs7924984	0.87[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs7925954	0.83[EUR][1000 genomes]
rs7935824	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7950153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs963998	0.87[CEU][hapmap];0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs995498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv896895	chr11:3942001-3972236	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs1349583	ANO9	cis	parietal	SCAN
rs1349583	CD81	cis	parietal	SCAN
rs1349583	ILK	cis	parietal	SCAN
rs1349583	IFITM5	cis	cerebellum	SCAN
rs1349583	STIM1	cis	lung	GTEx
rs1349583	RRM1	cis	Thyroid	GTEx
rs1349583	RRM1	cis	parietal	SCAN
rs1349583	C11orf35	cis	parietal	SCAN
rs1349583	TRIM21	cis	cerebellum	SCAN
rs1349583	ABCC3	trans	parietal	SCAN
rs1349583	IFITM3	cis	parietal	SCAN
rs1349583	RRM1	cis	cerebellum	SCAN
rs1349583	RRM1	cis	Artery Tibial	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:3961600-3975200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:3962000-3973400	Weak transcription	Ovary	ovary
4	chr11:3963000-3973200	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:3964400-3972400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:3967000-3972600	Weak transcription	Fetal Intestine Small	intestine
7	chr11:3968200-3974600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr11:3968200-3980200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:3968800-3974600	Weak transcription	HMEC	breast
10	chr11:3969000-3972400	Weak transcription	Placenta	Placenta
11	chr11:3969000-3973200	Enhancers	Primary B cells from cord blood	blood
12	chr11:3969000-3974000	Weak transcription	Gastric	stomach
13	chr11:3969000-3974200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:3969000-3974600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:3969000-3975400	Weak transcription	NHDF-Ad	bronchial
16	chr11:3969000-3980400	Weak transcription	NHLF	lung
17	chr11:3969400-3972400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr11:3969400-3974600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:3969400-3974600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr11:3969400-3974800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:3969400-3975200	Weak transcription	Aorta	Aorta
22	chr11:3969400-3975200	Weak transcription	NHEK	skin
23	chr11:3969400-3975800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:3969400-3976800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:3969400-3980000	Weak transcription	Liver	Liver
26	chr11:3969600-3974600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:3969600-3977800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr11:3970000-3973000	Enhancers	K562	blood
29	chr11:3970200-3976200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr11:3970200-3977200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:3970600-3973200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:3970600-3976000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr11:3970600-3978000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:3970800-3974000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:3970800-3974600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:3970800-3974800	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:3970800-3977000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:3970800-3977800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:3970800-3988600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:3971000-3973000	Enhancers	Fetal Thymus	thymus
41	chr11:3971200-3972400	Enhancers	Primary T cells from cord blood	blood
42	chr11:3971200-3972400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:3971200-3972800	Enhancers	HepG2	liver
44	chr11:3971200-3975600	Enhancers	Dnd41	blood
45	chr11:3971400-3972600	Enhancers	GM12878-XiMat	blood
46	chr11:3971400-3975400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr11:3971400-3975400	Enhancers	Psoas Muscle	Psoas
48	chr11:3971400-3988400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr11:3971600-3972800	Enhancers	A549	lung
50	chr11:3971600-3973000	Enhancers	Duodenum Mucosa	Duodenum

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