Variant report

Variant	rs7123124
Chromosome Location	chr11:4089976-4089977
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	chr11:4088836..4091273-chr11:4101944..4103940,2	K562	blood:
4	chr11:4088238..4090623-chr11:4092934..4095144,2	K562	blood:

Variant related genes	Relation type
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11821399	0.85[AMR][1000 genomes]
rs11823158	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827535	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827750	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11827795	0.83[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2167562	0.85[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412336	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57282641	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57292382	1.00[EUR][1000 genomes]
rs57365434	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58151848	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58461583	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59108256	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59178256	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59580400	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59842937	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59973839	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60110100	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60462758	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61225070	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61355819	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61589687	0.81[AFR][1000 genomes]
rs6578420	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6578421	1.00[EUR][1000 genomes]
rs6578435	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109227	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7114373	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117657	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122796	0.85[AMR][1000 genomes]
rs7128522	0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72555753	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7924332	0.85[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7926343	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7931280	0.83[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938706	0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938862	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939086	0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939090	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940292	0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940511	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942028	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942271	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943217	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7949898	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894456	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][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	chr11:4081000-4090000	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:4081000-4090000	Weak transcription	Esophagus	oesophagus
13	chr11:4081000-4101800	Weak transcription	Lung	lung
14	chr11:4081000-4104600	Weak transcription	Colonic Mucosa	Colon
15	chr11:4081200-4093000	Weak transcription	Fetal Kidney	kidney
16	chr11:4081200-4095400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:4081400-4095600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:4081600-4092800	Weak transcription	Fetal Stomach	stomach
19	chr11:4081800-4095200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:4081800-4095600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:4082000-4093400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:4082600-4090200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:4082600-4091000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:4082600-4093000	Weak transcription	Placenta	Placenta
25	chr11:4082600-4093200	Weak transcription	Brain Anterior Caudate	brain
26	chr11:4082600-4093400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:4082600-4094800	Weak transcription	Spleen	Spleen
28	chr11:4082600-4107400	Weak transcription	Stomach Mucosa	stomach
29	chr11:4082800-4093600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:4082800-4103400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:4083000-4090800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:4083000-4094200	Weak transcription	K562	blood
33	chr11:4083000-4095000	Weak transcription	HMEC	breast
34	chr11:4083200-4091200	Weak transcription	Liver	Liver
35	chr11:4083200-4093000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:4083200-4102200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:4083400-4090200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:4084200-4095400	Weak transcription	NHEK	skin
39	chr11:4084400-4091600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:4085000-4091800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr11:4085000-4093400	Strong transcription	Thymus	Thymus
42	chr11:4085200-4091400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:4085400-4090400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:4085400-4091400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:4085400-4091600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:4085400-4091800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:4085600-4090600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:4085600-4091000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:4085800-4091000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:4085800-4091200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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