Variant report

Variant	rs4938790
Chromosome Location	chr11:120054202-120054203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1287393	0.85[CEU][hapmap]
rs2444240	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2444242	0.83[CEU][hapmap]
rs2508496	0.83[CEU][hapmap]
rs2845708	0.83[CEU][hapmap]
rs470370	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs470373	0.87[ASN][1000 genomes]
rs470645	0.94[JPT][hapmap]
rs470876	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs470941	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs471001	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs477863	0.83[CEU][hapmap]
rs488672	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs521556	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs521841	0.83[CEU][hapmap]
rs528147	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs529657	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs529681	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs531260	0.92[ASN][1000 genomes]
rs533636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs550164	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs561498	0.88[JPT][hapmap]
rs566935	0.82[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs573211	0.92[ASN][1000 genomes]
rs605374	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs670855	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs896691	0.90[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	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	chr11:120049200-120054400	Genic enhancers	Fetal Intestine Small	intestine
7	chr11:120049400-120054800	Enhancers	Brain Anterior Caudate	brain
8	chr11:120049400-120059800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:120049600-120057000	Weak transcription	Left Ventricle	heart
10	chr11:120051600-120055400	Weak transcription	Gastric	stomach
11	chr11:120051600-120057600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:120051800-120054600	Enhancers	Pancreas	Pancrea
13	chr11:120051800-120057000	Weak transcription	HMEC	breast
14	chr11:120051800-120057200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:120052000-120055600	Weak transcription	Osteobl	bone
16	chr11:120052000-120055800	Weak transcription	Fetal Brain Male	brain
17	chr11:120052000-120057200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:120052000-120057400	Weak transcription	NH-A	brain
19	chr11:120052200-120058200	Weak transcription	Fetal Brain Female	brain
20	chr11:120052400-120055600	Enhancers	Ovary	ovary
21	chr11:120052600-120054600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr11:120052600-120055600	Enhancers	Adipose Nuclei	Adipose
23	chr11:120052600-120055600	Enhancers	Fetal Muscle Leg	muscle
24	chr11:120052600-120058200	Enhancers	Fetal Lung	lung
25	chr11:120052800-120054800	Enhancers	Colon Smooth Muscle	Colon
26	chr11:120053000-120054600	Enhancers	Small Intestine	intestine
27	chr11:120053000-120055000	Enhancers	Stomach Smooth Muscle	stomach
28	chr11:120053000-120055200	Enhancers	Colonic Mucosa	Colon
29	chr11:120053000-120056000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr11:120053000-120057400	Weak transcription	Brain Angular Gyrus	brain
31	chr11:120053000-120057800	Flanking Active TSS	HepG2	liver
32	chr11:120053200-120054600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr11:120053400-120054800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:120053400-120054800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr11:120053400-120055600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:120053600-120054600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:120053600-120054800	Weak transcription	Fetal Kidney	kidney
38	chr11:120053600-120055600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:120053600-120056600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:120053800-120054600	Enhancers	Right Ventricle	heart
41	chr11:120053800-120055800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:120053800-120056200	Flanking Active TSS	Liver	Liver
43	chr11:120053800-120056200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr11:120053800-120058000	Enhancers	NHDF-Ad	bronchial
45	chr11:120054000-120054400	Weak transcription	Right Atrium	heart
46	chr11:120054000-120055400	Weak transcription	Stomach Mucosa	stomach
47	chr11:120054000-120056200	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr11:120054200-120054400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:120054200-120055400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:120054200-120055400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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