Variant report

Variant	rs16929653
Chromosome Location	chr11:3931381-3931382
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3924387..3926675-chr11:3928971..3931483,2	K562	blood:
2	chr11:3880298..3882156-chr11:3929385..3931487,2	K562	blood:
3	chr11:3924735..3926822-chr11:3929983..3932371,3	K562	blood:

Variant related genes	Relation type
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10430939	0.94[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10458900	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs10500591	0.82[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs10500592	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs11030251	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11030286	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11030326	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11030327	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11030366	0.82[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs11030417	0.86[ASN][1000 genomes]
rs11030418	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11030453	0.82[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs11030478	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11030479	0.87[ASN][1000 genomes]
rs11030481	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11030484	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11030485	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11030486	0.82[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11030697	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs11030796	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs12222250	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12224469	0.85[ASN][1000 genomes]
rs1372803	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs16929438	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs16929467	0.82[CHB][hapmap]
rs16929477	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs16929480	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs16929488	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs16929492	0.82[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap]
rs16929529	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16929531	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16929538	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16929540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16929542	0.82[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16929546	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16929611	0.94[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs16929616	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1822286	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs2167563	0.82[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs3750994	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs4365044	0.82[ASW][hapmap];0.82[CHD][hapmap];0.84[LWK][hapmap];0.81[MEX][hapmap];0.80[AFR][1000 genomes]
rs4910878	0.82[CHB][hapmap]
rs55679086	0.87[ASN][1000 genomes]
rs55978228	0.87[ASN][1000 genomes]
rs56126231	0.88[ASN][1000 genomes]
rs59195871	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60930198	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897162	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897163	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897164	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897166	0.87[ASN][1000 genomes]
rs61897167	0.84[ASN][1000 genomes]
rs61897170	0.87[ASN][1000 genomes]
rs61897171	0.87[ASN][1000 genomes]
rs61897194	0.87[ASN][1000 genomes]
rs61897195	0.88[ASN][1000 genomes]
rs61897201	0.87[ASN][1000 genomes]
rs61897202	0.87[ASN][1000 genomes]
rs6578423	0.82[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs723779	0.82[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs72847181	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72851736	0.87[ASN][1000 genomes]
rs750526	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7928117	0.82[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap]
rs7934581	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs7941743	0.82[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs894454	0.82[CEU][hapmap];0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1051904	chr11:3903226-3939186	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1050077	chr11:3903226-3940726	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1043039	chr11:3903226-3955159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3916600-3943800	Weak transcription	Fetal Stomach	stomach
2	chr11:3916600-3948800	Weak transcription	Aorta	Aorta
3	chr11:3924000-3950600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:3924200-3934400	Weak transcription	Gastric	stomach
5	chr11:3924800-3938200	Weak transcription	Pancreas	Pancrea
6	chr11:3925800-3941000	Weak transcription	Right Ventricle	heart
7	chr11:3926600-3938400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:3926600-3941000	Weak transcription	Small Intestine	intestine
9	chr11:3926800-3937000	Weak transcription	Lung	lung
10	chr11:3927200-3933200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:3927200-3936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:3927200-3942600	Weak transcription	Spleen	Spleen
13	chr11:3927400-3941200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:3927600-3943600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:3928400-3940800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:3928800-3938200	Weak transcription	A549	lung
17	chr11:3929000-3938200	Weak transcription	Esophagus	oesophagus
18	chr11:3929200-3932400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:3929200-3932800	Weak transcription	Primary T cells from cord blood	blood
20	chr11:3929200-3934200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:3929200-3934400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:3929200-3935400	Weak transcription	Primary B cells from cord blood	blood
23	chr11:3929200-3935600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr11:3929200-3936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:3929200-3937200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:3929200-3938200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:3929200-3940800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:3929400-3931400	Weak transcription	K562	blood
29	chr11:3929400-3931600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:3929400-3932200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:3929400-3932200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:3929400-3937200	Weak transcription	Dnd41	blood
33	chr11:3929400-3937400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:3929400-3938200	Weak transcription	GM12878-XiMat	blood
35	chr11:3929400-3950600	Weak transcription	Ovary	ovary
36	chr11:3929600-3931400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:3929800-3931400	Enhancers	Adipose Nuclei	Adipose
38	chr11:3930200-3932400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:3930200-3938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:3930400-3932600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:3930400-3932600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:3930400-3933000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:3930400-3934600	Weak transcription	HepG2	liver
44	chr11:3930400-3936000	Weak transcription	HMEC	breast
45	chr11:3930400-3937000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:3930400-3937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:3930600-3931400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:3930600-3931400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:3930600-3931600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:3930600-3931600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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