Variant report

Variant	rs7118957
Chromosome Location	chr11:120054649-120054650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120054593..120056417-chr11:120079805..120082698,2	K562	blood:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10790369	1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10892544	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10892545	0.94[AMR][1000 genomes]
rs10892546	0.85[MEX][hapmap]
rs11217699	0.85[GIH][hapmap]
rs11217701	0.89[AMR][1000 genomes]
rs11217702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217705	0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217707	1.00[AMR][1000 genomes]
rs11217708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217725	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217732	0.84[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217739	0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217741	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217742	1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217743	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217744	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217745	0.94[AMR][1000 genomes]
rs11217746	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217748	0.85[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217749	1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217750	0.83[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217751	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217753	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217754	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11535714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12049837	0.83[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12224041	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12224472	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12225418	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274981	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281157	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12283165	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12417084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12417094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12417234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12418352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12419511	1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12419830	0.89[AMR][1000 genomes]
rs12419976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12419985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12420591	0.91[ASN][1000 genomes]
rs12420985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12421218	1.00[AMR][1000 genomes]
rs12422179	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34981150	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3740728	0.85[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3740729	0.85[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3740730	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3740731	0.85[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs508266	0.85[MEX][hapmap]
rs513638	0.85[MEX][hapmap]
rs679074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119458	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7119505	1.00[AFR][1000 genomes]
rs880487	0.86[ASN][1000 genomes]
rs896693	1.00[JPT][hapmap]

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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120043600-120057000	Weak transcription	Esophagus	oesophagus
2	chr11:120044400-120055200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:120046800-120055800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:120048200-120055600	Enhancers	Fetal Stomach	stomach
5	chr11:120049000-120055200	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:120049400-120054800	Enhancers	Brain Anterior Caudate	brain
7	chr11:120049400-120059800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:120049600-120057000	Weak transcription	Left Ventricle	heart
9	chr11:120051600-120055400	Weak transcription	Gastric	stomach
10	chr11:120051600-120057600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:120051800-120057000	Weak transcription	HMEC	breast
12	chr11:120051800-120057200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:120052000-120055600	Weak transcription	Osteobl	bone
14	chr11:120052000-120055800	Weak transcription	Fetal Brain Male	brain
15	chr11:120052000-120057200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:120052000-120057400	Weak transcription	NH-A	brain
17	chr11:120052200-120058200	Weak transcription	Fetal Brain Female	brain
18	chr11:120052400-120055600	Enhancers	Ovary	ovary
19	chr11:120052600-120055600	Enhancers	Adipose Nuclei	Adipose
20	chr11:120052600-120055600	Enhancers	Fetal Muscle Leg	muscle
21	chr11:120052600-120058200	Enhancers	Fetal Lung	lung
22	chr11:120052800-120054800	Enhancers	Colon Smooth Muscle	Colon
23	chr11:120053000-120055000	Enhancers	Stomach Smooth Muscle	stomach
24	chr11:120053000-120055200	Enhancers	Colonic Mucosa	Colon
25	chr11:120053000-120056000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr11:120053000-120057400	Weak transcription	Brain Angular Gyrus	brain
27	chr11:120053000-120057800	Flanking Active TSS	HepG2	liver
28	chr11:120053400-120054800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:120053400-120054800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr11:120053400-120055600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:120053600-120054800	Weak transcription	Fetal Kidney	kidney
32	chr11:120053600-120055600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:120053600-120056600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:120053800-120055800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:120053800-120056200	Flanking Active TSS	Liver	Liver
36	chr11:120053800-120056200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr11:120053800-120058000	Enhancers	NHDF-Ad	bronchial
38	chr11:120054000-120055400	Weak transcription	Stomach Mucosa	stomach
39	chr11:120054000-120056200	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr11:120054200-120055400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:120054200-120055400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:120054200-120055400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:120054200-120055400	Weak transcription	Placenta	Placenta
44	chr11:120054200-120055600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:120054200-120055600	Weak transcription	Brain Germinal Matrix	brain
46	chr11:120054200-120055600	Enhancers	Brain Hippocampus Middle	brain
47	chr11:120054200-120056000	Weak transcription	Spleen	Spleen
48	chr11:120054200-120057200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:120054200-120057600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:120054400-120054800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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