Variant report

Variant	rs11030796
Chromosome Location	chr11:4088776-4088777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:4086299..4090336-chr11:4101261..4104407,3	K562	blood:
2	chr11:4083954..4086302-chr11:4087607..4091172,3	K562	blood:
3	chr11:4088238..4090623-chr11:4092934..4095144,2	K562	blood:

Variant related genes	Relation type
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10430939	0.88[CHB][hapmap]
rs10458900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10500591	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs10500592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10500593	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11030251	0.81[ASN][1000 genomes]
rs11030286	0.81[ASN][1000 genomes]
rs11030326	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11030327	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs11030366	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs11030417	0.81[ASN][1000 genomes]
rs11030418	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs11030453	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11030478	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs11030479	0.85[ASN][1000 genomes]
rs11030481	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs11030484	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs11030485	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs11030486	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs11030697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11525342	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11529865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12222250	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs1372803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16929410	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16929438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16929480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16929488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16929492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16929529	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs16929531	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs16929538	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs16929540	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs16929542	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs16929546	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs16929611	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs16929616	0.82[CEU][hapmap];0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs16929653	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs1822286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1899478	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167563	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs2284449	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs3750994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55679086	0.85[ASN][1000 genomes]
rs55978228	0.85[ASN][1000 genomes]
rs56126231	0.81[ASN][1000 genomes]
rs56140937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59242983	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61897163	0.81[ASN][1000 genomes]
rs61897164	0.81[ASN][1000 genomes]
rs61897166	0.82[ASN][1000 genomes]
rs61897170	0.82[ASN][1000 genomes]
rs61897171	0.82[ASN][1000 genomes]
rs61897194	0.82[ASN][1000 genomes]
rs61897195	0.81[ASN][1000 genomes]
rs61897201	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs61897202	0.85[ASN][1000 genomes]
rs61897206	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61897234	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61897237	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61897238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61897254	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61899662	0.81[AMR][1000 genomes]
rs6578423	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs720106	0.82[CHB][hapmap]
rs723779	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs72851736	0.85[ASN][1000 genomes]
rs750526	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs7928117	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs7934581	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7941743	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs894454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4066200-4104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:4066400-4107800	Weak transcription	Small Intestine	intestine
3	chr11:4067800-4093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:4070800-4108600	Weak transcription	HSMM	muscle
5	chr11:4073000-4093200	Weak transcription	Fetal Intestine Small	intestine
6	chr11:4076200-4103000	Weak transcription	Fetal Intestine Large	intestine
7	chr11:4078000-4093200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:4079000-4093000	Weak transcription	Brain Germinal Matrix	brain
9	chr11:4079000-4112600	Weak transcription	Fetal Brain Female	brain
10	chr11:4079800-4093200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:4081000-4089800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:4081000-4090000	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:4081000-4090000	Weak transcription	Esophagus	oesophagus
14	chr11:4081000-4101800	Weak transcription	Lung	lung
15	chr11:4081000-4104600	Weak transcription	Colonic Mucosa	Colon
16	chr11:4081200-4093000	Weak transcription	Fetal Kidney	kidney
17	chr11:4081200-4095400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:4081400-4095600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:4081600-4092800	Weak transcription	Fetal Stomach	stomach
20	chr11:4081800-4095200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:4081800-4095600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:4082000-4093400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:4082400-4089600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:4082400-4089800	Weak transcription	Fetal Lung	lung
25	chr11:4082400-4089800	Weak transcription	HepG2	liver
26	chr11:4082600-4090200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:4082600-4091000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:4082600-4093000	Weak transcription	Placenta	Placenta
29	chr11:4082600-4093200	Weak transcription	Brain Anterior Caudate	brain
30	chr11:4082600-4093400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:4082600-4094800	Weak transcription	Spleen	Spleen
32	chr11:4082600-4107400	Weak transcription	Stomach Mucosa	stomach
33	chr11:4082800-4093600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:4082800-4103400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:4083000-4090800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:4083000-4094200	Weak transcription	K562	blood
37	chr11:4083000-4095000	Weak transcription	HMEC	breast
38	chr11:4083200-4091200	Weak transcription	Liver	Liver
39	chr11:4083200-4093000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:4083200-4102200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:4083400-4090200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:4084200-4095400	Weak transcription	NHEK	skin
43	chr11:4084400-4091600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:4085000-4091800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:4085000-4093400	Strong transcription	Thymus	Thymus
46	chr11:4085200-4089000	Weak transcription	Dnd41	blood
47	chr11:4085200-4091400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:4085400-4090400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr11:4085400-4091400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:4085400-4091600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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