Variant report

Variant	rs11738172
Chromosome Location	chr5:80715108-80715109
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80705493..80708422-chr5:80713834..80715686,2	K562	blood:
2	chr5:80713886..80715612-chr5:80719927..80721805,2	K562	blood:
3	chr5:80706922..80709797-chr5:80713834..80717319,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12187089	0.91[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12188441	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12188470	0.81[EUR][1000 genomes]
rs12188878	0.80[EUR][1000 genomes]
rs17296325	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17296479	0.81[EUR][1000 genomes]
rs34149723	0.87[AMR][1000 genomes]
rs7732320	0.91[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80693400-80721600	Weak transcription	Fetal Brain Male	brain
2	chr5:80694800-80722400	Weak transcription	Aorta	Aorta
3	chr5:80695400-80716000	Weak transcription	Brain Angular Gyrus	brain
4	chr5:80697200-80739600	Weak transcription	Left Ventricle	heart
5	chr5:80697400-80716000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:80698200-80716000	Weak transcription	Thymus	Thymus
7	chr5:80701600-80715800	Weak transcription	Brain Anterior Caudate	brain
8	chr5:80701600-80715800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:80701800-80722000	Weak transcription	Ovary	ovary
10	chr5:80702000-80716000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:80702200-80733600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:80702400-80715800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:80703400-80716000	Weak transcription	Fetal Brain Female	brain
15	chr5:80704000-80716800	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:80704400-80721600	Weak transcription	Fetal Stomach	stomach
17	chr5:80704400-80747600	Weak transcription	Placenta	Placenta
18	chr5:80704600-80721600	Weak transcription	Fetal Kidney	kidney
19	chr5:80705600-80722000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:80706400-80715600	Weak transcription	NHLF	lung
21	chr5:80706400-80715800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:80706600-80715600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:80706600-80716000	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:80707200-80715600	Weak transcription	HSMM	muscle
25	chr5:80707400-80748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:80708000-80722400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr5:80708000-80729400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:80708200-80721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:80709200-80755200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:80709400-80715200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:80710400-80718400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:80710400-80721600	Strong transcription	Fetal Thymus	thymus
33	chr5:80710600-80721600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:80711000-80716000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:80711200-80716000	Weak transcription	K562	blood
36	chr5:80712000-80715400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:80712200-80717000	Enhancers	NHEK	skin
38	chr5:80712200-80721600	Strong transcription	Dnd41	blood
39	chr5:80712400-80715800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:80712400-80715800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr5:80712400-80715800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:80712600-80716000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:80712600-80721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:80712600-80722200	Weak transcription	Psoas Muscle	Psoas
45	chr5:80713200-80716600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:80713400-80715400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:80713400-80715400	Weak transcription	Osteobl	bone
48	chr5:80713600-80728200	Weak transcription	Lung	lung
49	chr5:80713600-80769200	Weak transcription	Esophagus	oesophagus
50	chr5:80713800-80715400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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