Variant report

Variant	rs11840942
Chromosome Location	chr13:111058438-111058439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4773148	1.00[MEX][hapmap]
rs521699	1.00[MEX][hapmap]
rs766975	1.00[MEX][hapmap]
rs903355	1.00[MEX][hapmap]
rs9301444	1.00[MEX][hapmap]
rs9521753	1.00[MEX][hapmap]
rs9559763	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111043000-111059200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:111043000-111060000	Weak transcription	A549	lung
3	chr13:111045600-111059400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:111049000-111059600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:111050200-111064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
7	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:111050400-111060400	Enhancers	HSMMtube	muscle
9	chr13:111050800-111059600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:111051400-111059400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:111051600-111060000	Weak transcription	Gastric	stomach
12	chr13:111051800-111059600	Weak transcription	Aorta	Aorta
13	chr13:111052000-111059600	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:111052200-111059400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:111052200-111063400	Weak transcription	Psoas Muscle	Psoas
16	chr13:111053000-111063600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:111054600-111058600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:111054600-111061200	Enhancers	NH-A	brain
19	chr13:111054800-111060200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:111054800-111060400	Enhancers	NHLF	lung
21	chr13:111055000-111058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr13:111055200-111059600	Weak transcription	Ovary	ovary
23	chr13:111055400-111059400	Weak transcription	Spleen	Spleen
24	chr13:111055400-111059600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:111055400-111059800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:111056000-111059600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr13:111056200-111059200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:111056200-111060800	Enhancers	Left Ventricle	heart
29	chr13:111056200-111066000	Enhancers	Lung	lung
30	chr13:111056400-111060400	Enhancers	Colon Smooth Muscle	Colon
31	chr13:111056600-111059600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:111056800-111058600	Enhancers	HSMM	muscle
33	chr13:111056800-111060200	Enhancers	Rectal Smooth Muscle	rectum
34	chr13:111057000-111059400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:111057000-111059400	Enhancers	Fetal Stomach	stomach
36	chr13:111057000-111061200	Enhancers	Fetal Heart	heart
37	chr13:111057200-111058600	Enhancers	Fetal Muscle Trunk	muscle
38	chr13:111057400-111058600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:111057400-111059600	Weak transcription	Esophagus	oesophagus
40	chr13:111057400-111061600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:111057600-111059000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:111057600-111060000	Enhancers	Adipose Nuclei	Adipose
43	chr13:111057600-111060400	Weak transcription	NHEK	skin
44	chr13:111057800-111058800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:111057800-111059200	Enhancers	Right Ventricle	heart
46	chr13:111057800-111059400	Enhancers	Placenta	Placenta
47	chr13:111057800-111059600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr13:111057800-111064800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr13:111057800-111070400	Enhancers	Right Atrium	heart
50	chr13:111058000-111058600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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