Variant report

Variant	rs4910595
Chromosome Location	chr11:4049129-4049130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4040603..4045299-chr11:4047436..4050461,5	K562	blood:
2	chr11:4040603..4042840-chr11:4047485..4050461,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10742194	0.93[YRI][hapmap]
rs10742229	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10767706	0.81[LWK][hapmap]
rs10767827	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11030639	0.82[LWK][hapmap]
rs11030814	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11602757	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1442725	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1465952	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2060822	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2289570	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2412341	0.86[CHB][hapmap]
rs2860454	0.84[YRI][hapmap]
rs2898950	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920137	0.93[ASW][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[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920140	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920141	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920142	0.81[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2923946	0.90[GIH][hapmap];0.98[LWK][hapmap];0.96[MKK][hapmap]
rs2923947	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2923951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2923952	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2923954	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959058	0.95[LWK][hapmap];0.86[MKK][hapmap]
rs2959060	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959064	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959069	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959071	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959072	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959076	0.85[CHB][hapmap]
rs2959080	0.90[GIH][hapmap];0.98[LWK][hapmap];0.97[MKK][hapmap]
rs35695744	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794051	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794052	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910881	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6578440	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs7109811	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs727152	0.90[GIH][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap]
rs7924858	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7926908	0.83[EUR][1000 genomes]
rs7927493	0.90[EUR][1000 genomes]
rs7930739	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7938946	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940635	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7945918	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs894455	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs894457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9735835	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9988893	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4910595	OR52E4	cis	parietal	SCAN
rs4910595	RRM1	cis	cerebellum	SCAN
rs4910595	IFITM5	cis	cerebellum	SCAN
rs4910595	C11orf21	cis	parietal	SCAN
rs4910595	OR5E1P	cis	parietal	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4038000-4049400	Weak transcription	Spleen	Spleen
2	chr11:4038200-4057200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:4038200-4065200	Weak transcription	Left Ventricle	heart
4	chr11:4038400-4065400	Weak transcription	Esophagus	oesophagus
5	chr11:4038800-4050000	Weak transcription	K562	blood
6	chr11:4039200-4056400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:4040200-4049600	Weak transcription	A549	lung
8	chr11:4041800-4054600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:4043400-4051200	Weak transcription	Liver	Liver
10	chr11:4043600-4049400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:4044200-4050200	Strong transcription	Fetal Thymus	thymus
12	chr11:4044400-4049200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr11:4045000-4049800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:4045000-4051200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:4045200-4049200	Enhancers	Fetal Heart	heart
16	chr11:4045400-4049600	Enhancers	Fetal Stomach	stomach
17	chr11:4045600-4049200	Enhancers	Fetal Lung	lung
18	chr11:4045600-4049600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:4045800-4053400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:4046000-4049600	Enhancers	Rectal Smooth Muscle	rectum
21	chr11:4046000-4061400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:4046400-4051200	Weak transcription	HepG2	liver
23	chr11:4047200-4050200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:4047400-4049600	Enhancers	Colon Smooth Muscle	Colon
25	chr11:4047400-4050200	Strong transcription	Primary T cells from cord blood	blood
26	chr11:4047400-4050400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:4047400-4053800	Weak transcription	Aorta	Aorta
28	chr11:4047400-4055400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:4047400-4061400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:4047600-4049400	Enhancers	Fetal Muscle Leg	muscle
31	chr11:4047800-4049600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:4047800-4077400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:4048000-4049200	Weak transcription	Thymus	Thymus
34	chr11:4048000-4049600	Enhancers	Ovary	ovary
35	chr11:4048000-4050600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:4048000-4060000	Weak transcription	NHDF-Ad	bronchial
37	chr11:4048000-4077600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:4048200-4050400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:4048200-4053200	Weak transcription	Dnd41	blood
40	chr11:4048400-4049200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:4048400-4049200	Weak transcription	Right Ventricle	heart
42	chr11:4048400-4049400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:4048400-4050400	Weak transcription	Primary B cells from cord blood	blood
44	chr11:4048400-4054400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:4048400-4054800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:4048400-4061400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:4048400-4061800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:4048400-4062000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:4048400-4063200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:4048400-4065800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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