Variant report

Variant	rs11767550
Chromosome Location	chr7:140311238-140311239
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140306776..140309175-chr7:140310789..140312888,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10279057	0.81[AMR][1000 genomes]
rs10458275	0.82[AMR][1000 genomes]
rs10952779	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17621539	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17621746	0.82[AMR][1000 genomes]
rs17621775	0.82[AMR][1000 genomes]
rs269232	0.86[CEU][hapmap]
rs269241	0.96[ASN][1000 genomes]
rs28498721	0.82[AMR][1000 genomes]
rs57021669	0.83[AMR][1000 genomes]
rs7787017	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7792863	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9691566	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1021133	chr7:140270797-140338653	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1029128	chr7:140293389-140335570	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140267800-140326000	Weak transcription	Gastric	stomach
2	chr7:140287600-140326000	Weak transcription	Fetal Brain Male	brain
3	chr7:140296000-140326000	Weak transcription	Fetal Heart	heart
4	chr7:140297600-140313600	Weak transcription	Fetal Kidney	kidney
5	chr7:140302200-140326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:140302400-140326200	Weak transcription	Fetal Brain Female	brain
7	chr7:140302800-140326000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:140304200-140312200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:140305600-140314200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:140307600-140326000	Weak transcription	Spleen	Spleen
11	chr7:140307800-140311400	Weak transcription	HSMMtube	muscle
12	chr7:140307800-140316800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:140307800-140320400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:140308000-140311400	Weak transcription	HMEC	breast
15	chr7:140308000-140311800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:140308000-140320400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:140308400-140324000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:140308800-140314400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:140308800-140322800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:140308800-140323800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:140309000-140313600	Weak transcription	Brain Germinal Matrix	brain
22	chr7:140309400-140311600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:140309400-140312200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:140309600-140311400	Enhancers	Fetal Muscle Trunk	muscle
25	chr7:140309800-140312200	Enhancers	HSMM	muscle
26	chr7:140309800-140312600	Enhancers	Placenta	Placenta
27	chr7:140310000-140311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:140310400-140311400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:140310400-140311600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:140310600-140311400	Enhancers	Left Ventricle	heart
31	chr7:140310600-140311600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr7:140310600-140311800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr7:140310800-140311400	Weak transcription	Osteobl	bone
34	chr7:140310800-140320600	Weak transcription	NHDF-Ad	bronchial
35	chr7:140310800-140323800	Weak transcription	Fetal Lung	lung
36	chr7:140310800-140326400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:140311000-140313600	Weak transcription	Ovary	ovary
38	chr7:140311000-140320400	Weak transcription	NH-A	brain
39	chr7:140311200-140311400	Strong transcription	Fetal Muscle Leg	muscle
40	chr7:140311200-140311800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:140311200-140312200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:140311200-140314000	Weak transcription	Fetal Stomach	stomach
43	chr7:140311200-140321600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:140311200-140323600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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