Variant report

Variant	rs10743049
Chromosome Location	chr11:8110172-8110173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2272382	0.92[ASN][1000 genomes]
rs4575312	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4578424	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8103600-8115600	Weak transcription	Aorta	Aorta
2	chr11:8103800-8119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:8104000-8111400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:8104200-8120000	Weak transcription	HSMM	muscle
5	chr11:8104400-8114000	Weak transcription	Osteobl	bone
6	chr11:8104600-8114000	Weak transcription	NHDF-Ad	bronchial
7	chr11:8104800-8112800	Weak transcription	A549	lung
8	chr11:8104800-8114200	Weak transcription	Esophagus	oesophagus
9	chr11:8105400-8111200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:8105400-8118000	Weak transcription	Fetal Kidney	kidney
11	chr11:8105400-8122000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:8105600-8110200	Enhancers	Brain Hippocampus Middle	brain
13	chr11:8105600-8114200	Weak transcription	Adipose Nuclei	Adipose
14	chr11:8105800-8112600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:8105800-8114000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:8105800-8127400	Weak transcription	HepG2	liver
17	chr11:8106800-8122400	Weak transcription	Spleen	Spleen
18	chr11:8107200-8118000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:8108000-8114200	Weak transcription	Pancreas	Pancrea
20	chr11:8108000-8115400	Weak transcription	Ovary	ovary
21	chr11:8108000-8116000	Weak transcription	NHLF	lung
22	chr11:8108000-8117000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:8108200-8111800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:8108200-8114200	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:8108200-8115400	Weak transcription	Fetal Brain Female	brain
26	chr11:8108200-8115600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:8108400-8110800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:8108400-8112800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:8108400-8118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:8108600-8115000	Weak transcription	Brain Germinal Matrix	brain
31	chr11:8108600-8116400	Weak transcription	Fetal Brain Male	brain
32	chr11:8108600-8117000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:8108600-8118000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:8108800-8113000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:8108800-8114000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:8108800-8114600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:8108800-8115600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:8108800-8115600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:8108800-8115800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:8108800-8115800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:8108800-8116200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:8108800-8117800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:8108800-8118200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:8109000-8111400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:8109000-8112600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:8109000-8113200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:8109000-8113200	Weak transcription	Left Ventricle	heart
48	chr11:8109000-8125400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:8109200-8110600	Enhancers	Fetal Muscle Trunk	muscle
50	chr11:8109400-8111800	Weak transcription	H1 Cell Line	embryonic stem cell

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